This is also a good time to introduce Genomics Law Report readers to Sharon Goswami, the Genomics Law Report’s new intern. Sharon is a 2L at New York University’s School of Law and and holds a degree in chemical engineering from Princeton University. At NYU, she is technology co-chair of the student intellectual property organization IPELS and an active student member of the William C. Conner IP Inn of Court.

This edition of the Twitter Roundup is divided into two sections.

The FDA Meets DTC. Again. Since this is the first Twitter Roundup since the FDA’s two-day public panel meeting on direct-to-consumer (DTC) genetic testing two weeks ago, we have collected all of the recent tweets on that topic in a separate section. We covered this topic in extensive detail (see posts here, here and here), but there have been plenty of others sharing their thoughts and opinions on the meeting, the FDA’s actions and the future direction of DTC genetic testing. You can find links to many of those below, as well as Dan’s live-tweeting of the meeting itself. You can also find additional coverage on Twitter under the hashtag #FDADTC and you can find all of the GLR’s DTC coverage here.

Also in the News: Public Genomics and Patent Reform. All other Tweets are collected below as usual. In addition, here are a few recent highlights our readers may have missed.

Genetic Data in the Public Domain: Genomes Unzipped Implements CC0. Raw genetic data from the Genomes Unzipped (GNZ) contributors (including Dan) are now officially available under the Creative Commons CC0 public domain option. By placing data under CC0 the GNZ contributors have waived their copyright to their genetic information, permitting the use of those data without restriction or attribution. GNZ joins other efforts – including the Personal Genome Project (which also utilizes CC0), SNPedia and Sage Bionetworks – in seeking to broaden the availability of public genomic data.

GNZ data can be browsed using the group’s Genome Browser in a manner similar to the tools available through the International HapMap Project website – looking at particular sets of data that correspond to RefSeq materials. However, unlike the HapMap data, GNZ data comes from identified individuals who have chosen to share their genomic data with the public freely and without restriction.

Update on Patent Reform Legislation. Earlier this month, the Senate passed by a 95-5 vote the America Invents Act (S.23) or, as it is more commonly known, the Patent Reform Act of 2011 (pdf). Its passage, after six years of ongoing legislative debate, was hailed by many. President Barack Obama called it “the most significant patent reform in over half a century” and David Kappos, Director of the United States Patent and Trademark Office (PTO), declared it “a win for all American innovators, of all sizes and industries.”

Among the legislation’s numerous reform proposals, the most controversial is a proposed change to a first-to-file system (from a first-to-invent system), which would award priority in most cases to the first inventor to file with the PTO. Supporters of the switch to first-to-file, including the Biotechnology Industry Organization (BIO), argue that the change would bring the United States in line with international patent practice and that, on the whole, the reform would improve the U.S. patent system, spur innovation and create jobs.

Detractors, on the other hand, argue that the current first-to-invent system protects small inventors who lack the patent prosecution of large corporations. For example, the National Venture Capital Association (NVCA), the nation’s largest trade group for early-stage investors, argued this week that the current version of the Patent Reform Act substantially disadvantages small start-up companies and could harm innovation and investment.

Over the past few weeks, as politicians, lobbyists and industry groups have lined up on both sides of the Patent Reform Act, the bill’s odds of becoming law have become far less clear than they initially appeared. With the reform act currently stalled in the House (another hearing is set for next week) it remains to be seen whether 2011 will be the year that patent reform legislation is finally passed and, if so, what portions of the Senate version will survive the legislative process intact.

Now, on to the Tweets:

Tweets from or about the FDA’s public meeting on clinical DTC genetic testing:

• HT to @razibkhan & his post on “Genetic Paternalism & the FDA” http://bit.ly/hkJak9 for pointing me to Kari/deCODE quote #FDADTC
• GLR Post: Closer Scrutiny Ahead for DTC Genetic Testing Claims: http://bit.ly/gxnpEn #FDADTC
• Last wk’s House jobs forum reminder some in DC see #FDADTC regulation as inhibiting job creation: http://bit.ly/fjLXwJ cc @PathwayGenomics
• FDA promises reg guidance for mHealth apps this yr. @mobilehealth says it’s been happening for yrs: http://bit.ly/hiB9O2 sounds like #FDADTC
• RT @shwu: FDA’s summary of the #FDADTC panel meeting: http://1.usa.gov/hy6MPx
• Want to share your #FDADTC thoughts? CDRH Town Hall-Orlando-on 5/5: http://1.usa.gov/i2oGgp Shuren to discuss FDA strategic priorities
• RT @dgmacarthur: A more optimistic take on the #FDADTC meeting from @PathwayGenomics: http://cot.ag/gqGm1Z
• More excellent coverage from #FDADTC by Turna Ray of @pgx_reporter: http://bit.ly/fhiZ1U (sub)
• GLR Post: The FDA and DTC Genetic Testing: Setting the Record Straight: http://bit.ly/f9lWgq #FDADTC
• Have been told House DTC investigation “bipartisan,” not over simply due to Republican control of comm. Will E&C revisit GAO report? @shwu
• RT @shwu: Source docs for GAO restructuring: http://1.usa.gov/hPIzbt
• RT @dgmacarthur: Official who led GAO report into DTC genomics shown to have fudged schools report: http://bit.ly/eYyqZj (via @shwu)
• Expanded, revised #FDADTC slides for AM talk @DukeIGSP. Have posted for those interested: http://bit.ly/gRZ8mQ
• Different take on #FDADTC: RT @GW_The_Sample: Clinical Labs Should Rejoice Over FDA Panel’s DTC Genetic-Test Ruling: http://bit.ly/hewnDH
• DNA Dilemma: Denoument (or what @mary_carmichael would have liked to say to the #FDADTC panel): http://bit.ly/h6ckBe
• RT @genomesunzipped People have a fundamental right to access their own genetic information – a consensus statement: http://bit.ly/eQw8ai
• +1 RT @matthewmarkus: I enjoy analyzing lats & lons more than SNPs because my results don’t have to be routed through a geographer. #FDADTC
• RT @mary_carmichael: “PPl should be free to make own choices. Harm from [DTC] tests ltd, as is benefit.” Altshuler: http://bo.st/ffebu1
• RT @dgmacarthur: At @genomesunzipped, Joe Pickrell points out the benefits to research of DTC genetic testing: http://bit.ly/iecbZt #FDADTC
• Frustration with #FDADTC spilling from twitter to blogs (#2): @razibkhan prepares to defend his genomic rights: http://bit.ly/fIc7gl
• Frustration with #FDADTC spilling from twitter to blogs (#1): @DNAlawyer challenges FDA’s authority: http://bit.ly/fCinuI
• Detailed coverage from Day 1 of #FDADTC from @pgx_reporter: http://bit.ly/gyJimX (subscription)
• Need to think beyond spit kits, too. Where will WGS analysis occur? RT @MishaAngrist: Suspect lot of saliva will be headed offshore. #FDADTC
• Speakers? Probably. Panel itself? No. RT @RDGene: Gutierrez: assures panel that provided speakers that were balanced #FDADTC
• Add’l VC funding since. RT @RDGene: Rose Romeo @23andMe: layoffs referred to yesterday due to recruitment of experienced personnel #FDADTC
• That begs a good q: is DTC test must be routed through clinician, must post-test follow-up-eg surveys-go through clinician as well? #FDADTC
• RT @RDGene: Pathway: move to HP only model has made collection of lifestyle data used in risk calcs more difficult #FDADTC
• Panel composition not well balanced. RT @shwu: All this concern for consumers-has anyone thought to ask consumers themselves? #FDADTC
• Assume from audience, not from panel/FDA. RT @RDGene: (Round of applause when Pendergrast finished her talk #FDADTC)
• RT @aliciaault: Pendergast said MDs on panel could not keep info from consumers, nor compel them to see MDs after test results. #FDADTC
• RT @aliciaault: Wow, former FDA official Mary Pendergast just chewed out the panel for being paternalistic, controlling doctors. #FDADTC
• Breaking for lunch at #FDADTC. That’s going to be it for me as off to @DukeIGSP: http://bit.ly/bkroGw. Will follow rest of mtg from afar.
• Mansfield: we have used direct-to-consumer for simplification. Tests also called “direct access,” various other terms. #FDADTC
• Mahowald: key idea is people are buying these tests. (Not sure I see consumer/customer distinction Mahowald is trying to make) #FDADTC
• Mahowald: wants to make a strong pitch to change from “consumer” to “customer”; wants panel to vote on it #FDADTC (What’s the difference?)
• Ng: need a pre-test/post-test risk calculator? Know in advance extent genetic info will modify your risk after consid other factors #FDADTC
• House: why can’t we tell individuals that the test has limitations (not all factors incl), but allow them to manage that information #FDADTC
• House: assume we have approved genetic test mtg FDA reg requirements. If that test is not the only factor, why not make avail #FDADTC
• Hersch: issue imp for labeling; clarify medical risk uncertain, true risk of disease must be considered in context of other factors #FDADTC
• D’Agostino: tests should be developed in light of existing knowledge, incl. all relevant clinical parameters (not just genetic) #FDADTC
• Netto: inability of DTC companies to provide other types of data collection, interpretation is what will keep most tests from DTC #FDADTC
• Netto: this is the issue that is going to bring most DTC back to prescription testing; to do this properly will need a clinician #FDADTC
• Ransohoff: patient is not really interested in “what’s my test result”? Interested in “what’s my risk for X”? (Do consumers agree?) #FDADTC
• D’Agostino: absolutely. Ransohoff: a great q b/c it shows distinction b/w HIV test and a genetic test – latter has add’l complexity #FDADTC
• Q from FDA to panel: should test reports for future risks incl. warnings/info about add’l risk factors (eg env, health history) #FDADTC
• Lipkin and others generally agree that absolute risk is easiest for consumers to understand; can have relative risk as well #FDADTC
• Lee: descriptive categories easiest to understand (for consumers), but need to be tied to number (absolute risk) #FDADTC
• Q from FDA to panel: what are best ways to present risk to consumers in genetic testing context? Relative, absolute, high/low risk #FDADTC
• Lipkin: need to make avail genetic “counseling” by a qualified individual; whether that’s a GC or somebody else TBD #FDADTC
• Tsongalis: are we confusing genetic counseling w/ clinical counseling? GC’s and MD’s have different roles #FDADTC
• Ransohoff: making GC available may not be enough. Disingenuous to leave too much in hands of consumer. #FDADTC
• (NB: panel discussion at this point is all hypothetical; background assumption is their rec to FDA that most/all tests not DTC #FDADTC)
• Wyne: if we let tests go DTC w/out “routing through clinician,” should at least make a GC available #FDADTC
• Wyne: should rec involvement of GC; the fact #s are insufficient today is not a surprise; field is growing, more GCs will be trained #FDADTC
• Ransohoff: if a test is so complicated that a genetic counselor is required, then perhaps that is a sign the test shouldn’t be DTC #FDADTC
• Shamburek: sub-specialists are nice for specific traits (HD), but won’t work for whole-exome, WGS; need broader genetics expertise #FDADTC
• FDA: looking for recommendation from panel: should GCs be required, should they be available? How should they be involved? #FDADTC
• Gallagher: agrees, but notes not enough qualified genetic counselors; also be wary of conflict of interest (GCs employed by co) #FDADTC
• Mahowald: important that the clinician involved in genetic testing counseling be “qualified”; cos obligated to ensure this. #FDADTC
• Panel now asked to consider appropriate role of genetic counselors in clinical DTC genetic testing #FDADTC HT @GenCounsNews @alliejanson
• Gutierrez: but given panel is clear that most (maybe all?) tests should not be DTC, ok to move on #FDADTC
• Gutierrez: when we put panel together, had to consider possibility of panel going either pro or con on DTC. So qs thus designed #FDADTC
• (Panel clarifying that high-risk tests should not be available DTC; but panel reminded – by other panelists – that only making recs #FDADTC)
• Wyne: how do you decide what is medically actionable w/ 100,000 genes on chip? Screen every one? #FDADTC
• Gutierrez: consider whether particular disease/ symptom requires clinical intervention – requirement of going through MD #FDADTC
• Wyne: can we allow as DTC anything that is not “medically actionable”? #FDADTC
• Panel: will we be asked about privacy issues related to (DTC) genetic testing? Mansfield: not the place for that discussion either #FDADTC
• Hirschhorn: how will FDA integrate regulation w/ state laws? Gutierrez: not the place for this discussion. #FDADTC
• Shamburek: much of practice of medicine is “routed through physician”; genetic testing can follow same pathway for certain tests #FDADTC
• Netto: needs to be sure consumers are told that a test, delivered to clinician, will wind up in medical record #FDADTC
• Panel now discussing whether people test DTC b/c they are trying to avoid putting information in medical record #FDADTC
• (Interesting panel so reluctant to limit access of test to targeted pop’n-want wide access-but not concerned w/ limiting in toto #FDADTC)
• Panel seems to agree: can regulate test, marketing claims – but once test out there should be available to everyone #FDADTC
• Panel: going to be hard to define which pop’n is target? how would FDA be able to control/limit avail of testing? #FDADTC
• Q from FDA: Should test for rare conditions/marker be offered only to pop’n with higher prevalence of condition/marker? #FDADTC
• Shambuurek: suggests NIH genetic testing registry as place to provide info for confirmatory testing, follow up info for patients/MDs #FDADTC
• Panel qs: will consumer have option to order competitor’s test to confirm? How will this happen? Will result in unnecessary testing? #FDADTC
• Ransohoff: in general, confirmatory testing imp. But FDA needs to tie to the clinical significance, risk of the test-case-by-case #FDADTC
• Panelists: confirmatory testing very important; responsibility should be on cos to provide confirmatory testing #FDADTC
• (Prediction: panel will favor confirmatory testing #FDADTC)
• Q from FDA to panel: how to address false positive rate in rare disease pop’n? Should there be confirmatory testing in this situ? #FDADTC
• Question from FDA to panel: “what are essential risk mitigation tools to providing DTC genetic tests?” #FDADTC
• (The panel keeps coming back to “how do we know these tests actually work?” FDA keeps saying – we’re going to regulate like devices #FDADTC)
• Gutierrez: accuracy/validity of test will be regulated by FDA. For high-risk (Class I) will be on cos to prove safety, efficacy #FDADTC
• (Unfortunate that panel didn’t take up House’s suggestion to use consumer-demonstrated education as a form of mitigation #FDADTC)
• Gutierrez: clarifies re: labeling. For FDA “labeling” means everything, including advertising #FDADTC
• Ransohoff: will FDA judge the genetic test “package” or each individual test w/in that package/test panel #FDADTC
• Ransohoff: heard good exs of mitigation from Benson’s (FDA) talk this AM. But FDA needs to consider every single SNP/claim on panel #FDADTC
• (House w/ a really interesting suggestion. Similar to what PGP requires in the form of an entrance exam http://bit.ly/i8NOV3 #FDADTC)
• House: can FDA req patient to pass some type of screening/educational exam prior to ordering a test DTC to address info concerns? #FDADTC
• Hejazi: what about Humanitarian Device Exemption route for DTC? Gutierrez: doesn’t think cos limiting to small enough pop’n #FDADTC
• Waterson/Mansfield: here we’re talking about hypothetical. If FDA *does* permit some tests DTC, what mitigation measures req? #FDADTC
• D’Agostino: clarifying that yesterday we recommended most tests should *not* be DTC. Did this change? #FDADTC
• Shamburek: addition to pre-test info, labeling, will need to be confirmatory testing in many cases. That risk/cost must be shared #FDADTC
• Boughman: will depend heavily on FDA to evaluate proprietary algorithms. Davis: labeling needs to be appropriately simple #FDADTC
• Q to panel: when might info to consumers about risks/benefits be sufficient to allow for DTC genetic testing? #FDADTC
• Panel in general agreement re: need for truth in labeling/advertising for genetic tests – necessary but not sufficient for DTC path #FDADTC
• For #FDADTC, clarified during break: FDA appears to be leaning toward DTC as home use kit (for DNA collection) + med device (for claims)
• Shamburek: if truth in labeling, consumers can understand some tests / FDA can work w/ FTC to ensure this #FDADTC
• Panel now considering second of charged questions: http://bit.ly/hvOR9Z Basically: what mitigations avail for DTC tests #FDADTC
• Netto: another issue: DTC means results don’t necessarily wind up in medical record. (True but may be a reason some desire DTC) #FDADTC
• (Very difficult to see how that model doesn’t bankrupt both FDA & any test sponsor. However, know FDA is looking at alternatives #FDADTC)
• (Heard FDA – I think Philip – confirm that each new variant, claim needs to be submitted, validated, approved separately. #FDADTC)
• (This followed by minimal discussion of how to deal w/ adding new variants, claims to massively multiplex/WGS testing #FDADTC)
• Netto: Very difficult to separate these two. Ultimately, have to look at each test independently. #FDADTC
• Netto: clarifying, again, that genetic tests *will* be regulated. Issue whether MDs involved in order/interp. #FDADTC
• Ransohoff: is idea that if risk isn’t great, DTC bar gets lowered? Gutierrez: yes, but still concerned w/ truth & accuracy of claims #FDADTC
• Gutierrez: this is q for today. What are DTC test sponsor’s responsibilities? How can FDA mitigate risk & help ppl understand test? #FDADTC
• Ransohoff how will genetic test complexity be digested by cos/FDA before reaching indiv? If MDs can’t understand, is anything DTC? #FDADTC
• (This is the akin to the notion of personal utility that the panel seemed not-so-interested in when discussing DTC yesterday. #FDADTC)
• Panelist (Hersch): future risk can be clinically significant b/c it makes people to make all kinds of decisions about what they do. #FDADTC
• Philip: some of those claims could be prevention claims – which would be clinically significant. #FDADTC
• Mahowald: how is a test clinically significant when somebody could not become symptomatic for decades? (Or is already symptomatic?) #FDADTC
• Philip: even in asymptomatic pop’n, need to lay out intended use. FDA looks at if in target pop’n test will give clin. sig. res. #FDADTC
• Mahowald: What constitutes clinical use? For long-term risk assessment, w/ clinical application long in future, is that clinical? #FDADTC
• Panelist (Mahowald): still trying to get a handle on intended use. Intended use refers to clinical indication? #FDADTC
• Philip: We’ll look @ analytical validation for future tech (incl. WGS), but need input re: validation (analytical/clinical) of tests #FDADTC
• FDA (Philip): we know WGS is at the door; have started looking at validating this technology. E.g. have cleared 60 mutations for CF. #FDADTC
• Panelist (Tsongalis): how will you move from SNP/single-trait testing to massive multiplexing, whole-genome sequencing? #FDADTC
• Gutierrez: In end, we will make public our reviews, incl. bases we found something sub equivalent (510(k) and/or safe & effective. #FDADTC
• Gutierrez: cos will offer reg submissions; FDA will work w/ cos to shape those. Point of mtg, to help FDA do this #FDADTC
• Gutierrez: FDA on record of saying that DTC genetic testing should be regulated. Talking w/ cos about how to comply #FDADTC
• (A bunch of back-and-forth between panel and FDA – particularly Gutierrez. Will try to summarize for #FDADTC)
• Seems likely for non-clinical, incl. n-c DTC RT @RDGene: Gutierrez states that some low risk genetic tests may be considered Class 1 #FDADTC
• Gutierrez: considering how to down-regulate where possible ;have considered panels to help set correct reg (in context of LDTs) #FDADTC
• Gutierrez: FDA regulates based on risk. Depends on intended use; try to not make extra work for ourselves, get to appropriate risk #FDADTC
• Panel q from Hejazi (industry rep): asking how agency intends to regulate genetic tests? #FDADTC
• Gutierrez: part of FDA’s mission, since 1976, to regulate all in vitro diagnostics for safety, efficacy. Genetic tests included. #FDADTC
• Panel q: what prompted FDA to start regulating prescription genetic tests (IVD tests)? #FDADTC
• (Job got in the way of #FDADTC this morning. Back in the room now & catching up thanks to tweets from @aliciaault and @RDGene)
• GLR Post: Looking Ahead After the FDA’s DTC Meeting: http://bit.ly/hiK5te #FDADTC
• After very long day at #FDADTC, here are my 1st thoughts: http://bit.ly/hiK5te Take-away for DTC proponents: don’t panic.
• Quick & on point RT @dgmacarthur: My attempt to piece together the early events from day one of the #FDADTC meeting: http://bit.ly/fVNcsy
• RT @MishaAngrist: “Making movies” My take on the FDA-23andMe-Congressional Hearings contretemps. http://bit.ly/dOyi22 #FDADTC
• That’s the close of the #FDADTC discussion for today. Panelists reminded once against not to discuss subject matter of mtg outside of panel
• Query: is personal utility (i.e., satisfaction) other side of anxiety? If anxiety considered shouldn’t personal utility be as well? #FDADTC
• Boughman: avoid paternalism: distinguish between data showing anxiety vs. anticipation of anxiety #FDADTC
• Lipkin: data on anxiety doesn’t meet criteria for clinical significance Waterson: but tests weren’t for serious traits like BRCA #FDADTC
• Next q for panel: should anxiety be considered in assessment of safety and effectiveness? #FDADTC
• Waterson: “sense I’m getting from committee” is to not include personal utility in considering clinical significance #FDADTC
• Ransohoff: personal utility is important, but also very susceptible to marketing manipulation. #FDADTC
• FDA clarifying for panel statutory definition of clinical significance. Netto: on that definition, no evid of clinical sig for DTC #FDADTC
• (Waterson: does FDA have statutory authority to consider personal utility? Mansfield: “assume that we do.” #FDADTC)
• Next panel question: should personal utility be incorporated in considerations of “clinically significant results”? #FDADTC
• Important clarification from panel: is “physician” the individual’s physician, or a company physician? #FDADTC
• House is consistent voice of disagreement; thinks patients sophisticated enough to understand when clinical consult needed #FDADTC
• (Most panelists seem to think that, regardless of DTC ordering, results should be returned through physician #FDADTC)
• Ng: any result w/ a high predictor a person will develop a disease, w/ clinical utility, needs to be funneled through physician #FDADTC
• Mansfield: “routing through physician” means report results to physician *only*; MD decides whether/how to pass to patient #FDADTC
• (Waterson offers that ordering must be by provder; two panelists quickly disagree – if reviewed by provider then ordering DTC OK #FDADTC)
• Next question for panel: are there tests that can be ordered DTC as long as results are reviewed by clinician? #FDADTC
• Waterson: “I don’t know if I’m getting a clear sense” on nutrigenetic testing. Concerns around testing claims, not test themselves #FDADTC
• Mansfield: clarifies again that for all tests FDA intends to regulate to ensure analytical/clinical validity. Q is avail of DTC path #FDADTC
• Panel is treating “nutrigenetic” as a bit of a catch-all category for testing that seems “health-related,” but maybe not clinical #FDADTC
• Shamburek: thinks generally low risk, but still concerned about underlying analytical/clinical validity of nutrigenetic tests #FDADTC
• Nutrigenetic discussion turning to MTHFR-folate testing, recommendations. #FDADTC (panel jumping around quite a bit right now)
• Final part of question #1: what about nutrigenetic tests? Should those be available DTC w/out clinician guidance? #FDADTC
• Continue to think Waterson (#FDADTC panel chair) oversimplifying range of views, opinions raised by panel. To be fair he has impossible task
• Waterson: “getting the panel’s sense again that [PGx] should, for time being, be under MD/provider purview” #FDADTC
• Boughman: asks for clarification from FDA re: labeling for PGx tests. Mansfield: most PGx tests described not req (but see Abacavir) #FDADTC
• Panelist: aren’t there Hep-c, HIV tests offered DTC? Mansfield: over-the-counter, not DTC. (Promises to clarify distinction tom.) #FDADTC
• Next category: PGx testing. Does risk of offering PGx tests DTC outweigh the benefits? #FDADTC
• Mansfield: we’re looking for weight of risks/benefits of DTC channel, not whether the tests are safe. #FDADTC
• Hejazi: if we req genetic testing through physician, what about ppl who do not have a physician/hc coverage? How do they get data? #FDADTC
• Mansfield: we cannot consider cost of test in determining regulation. Panel: cost as means of data avail still part of pro/con #FDADTC
• Tiffany House (patient rep): can’t wait to have all of the answers, b/c we will never have all of the answers #FDADTC
• RT @DNAlawyer: FYI Shuren’s testimony in July said FDA focuses on tests “intended for use” http://1.usa.gov/dSXqfQ not possible medical use
• (And a helpful clarification from Mansfield: what matters is *intended* use, not clinical significance. #FDADTC)
• (What’s not clear from FDA: is it *possible* clinical use or *intended* clinical use that labels a test “clinical” for #FDADTC purposes?)
• Panelist rightly challenges Mansfield. You cannot necessary separate out clinical from non-clinical. #FDADTC
• Mansfield: clarifying what FDA does / does not consider clinical DTC tests (FDA not interested in non-clinical tests) #FDADTC
• (Boughman’s arg seemed to be data is too complex for DTC delivery. Interested consumers should work through trad’l HC channels #FDADTC)
• Joann Boughman, ASHG: do consumers have “right to know”? Not ready for DTC. Motivated ppl can advocate through traditional HC system #FDADTC
• Panel now considering DTC w/out clinical involvement for susceptibility testing (FDA’s ex: APOE/Alzheimer’s) #FDADTC
• (Waterson has twice declared “consensus” despite disagreement from other panelists, as well as less than half the panel weighing in #FDADTC)
• Waterson (chair): again declares consensus on pre-symptomatic testing-through docs, not DTC. #FDADTC
• (One theory: #FDADTC panel gravitating twd Huntington’s b/c monogenic, bright-line disease/test? Easier to analyze, ‘tho not good DTC model)
• Panel does seem in agreement that Huntington’s testing shouldn’t be DTC (Curious if this is even avail DTC? Anyone know?) #FDADTC
• Mary Mahowald arguing that some pre-symptomatic testing (incl. BRCA) could be offered DTC, in some circumstances #FDADTC
• (Exs FDA provided for panel to consider for pre-symptomatic testing category: BRCA, Huntington’s #FDADTC)
• Not sure we reached any consensus, but moving on: value of offering pre-symptomatic genetic testing DTC w/out clinician involved #FDADTC
• (A critical point, added as a clarification, from Gutierrez. No “enforcement discretion” for genetic testing. Issue is avail of DTC #FDADTC)
• Gutierrez: clarifies that whether FDA will regulate companies is *not* on table. Issue is whether the DTC pathway will remain open #FDADTC
• Several panelists object to “consensus”. Led by Tiffany House, panel’s lone patient rep. Concerned some MDs won’t prescribe tests. #FDADTC
• Waterson (chair) concludes there is a consensus that carrier testing should not be DTC for now. #FDADTC
• (Get sense panelists are feeling rushed, pressured to make recommendation on very complex area/very quickly. AG trying to reassure #FDADTC)
• Alberto Gutierrez, OIVD: what FDA looking for is general concepts; is it possible to move ahead w/ DTC in these categories or not? #FDADTC
• Panelist: 5-10 years before able to make definitive determinations; caution first, then make recommendations much later #FDADTC
• Several panelists: even w/in category of carrier testing, must go through each test one-by-one & make DTC determination-No shortcuts #FDADTC
• First comments from panels industry rep, Shahram Hejazi (http://bit.ly/dGXLcp) – focus on clinical validity #FDADTC
• (Last tweet was confusing: the panel is 22 ppl. Going to be tough to build consensus from such a large group. But good discussion #FDADTC)
• Not surprisingly, appears to be no clear consensus from the panel on appropriateness of DTC carrier testing (of nearly 2 dozen ppl) #FDADTC
• Tiffany House (patient rep on panel; Int’l Pompe Association) supports DTC availability provided there is full, complete disclosure #FDADTC
• Panel discussion fairly wide-ranging; panel chair (John Waterson, Children’s Hospital Oakland) doing a good job trying to focus #FDADTC
• Panel to consider each question in context of 1) carrier, 2) pre-symptomatic, 3) susceptibility, 4) PGx & 5) nutrigenetic testing #FDADTC
• First #FDADTC question is, essentially, what are risks/benefits of offering different types of DTC genetic tests w/out clinician involvement
• #FDADTC resumes. The panel is now going to be discussing the first of two charged questions (see: http://1.usa.gov/hvZmc9)
• Good panel q moving us away from discussion about how to interpret genetic information to where consumers belong in the picture #FDADTC
• Gulcher: GWAS is essentially over; we’re now into WGS. (Notes decode sequencing Icelandic population-2,500 WGS, imputation of rest) #FDADTC
• Back-and-forth re: DTC genetic testing & risk prediction w/out family history, etc. Gulcher: add’l info valuable; panel skeptical #FDADTC
• Gulcher of deCode response: DTC genetic test not a substitute for traditional clinical guidance; a supplemental service #FDADTC
• Response to panel q, JG of CRG criticizing DTC companies for only providing “part of the whole”; genetic data, but not FH, env data #FDADTC
• Unfortunately, no. Public mtg not as public as it might be. RT @bigs: .@genomicslawyer is there a video feed for #FDADTC?
• panelist q: any lawsuits against @23andMe claiming damage? Gould: no, none. #FDADTC
• Q re: non-paternity disclosure through DTC testing. AG: that’s part of the risks we disclose in consent to test process #FDADTC
• AG: thinks DTC well positioned to collect long-term outcomes data; outcomes data reporting a good form of oversight #FDADTC
• Panelist offering two anecdotes of patients who came with @23andMe data; one positive outcome, one misinterpretation. #FDADTC
• True, generally. But clinical blurs that line RT @DNAlawyer: In commerce setting, the q is capacity to consent, not informed consent #FDADTC
• AG of @23andMe: genetic testing can be used to confirm/contradict family history; also many customers who are adopted & have no FH #FDADTC
• Panel: “the cheapest genetic test is a good family history”; how does this compare to DTC genetic testing #FDADTC
• (These are important questions; clear need for stronger identity verification mechanisms in DTC genetic testing #FDADTC)
• Panel now asking about DTC genetic testing of minors, disabled adults – others who cannot provide informed consent. #FDADTC
• (For background, here’s the recent GLR post on this issue – surreptitious genetic testing: http://bit.ly/eAncsm #FDADTC)
• Panel q: how can we be sure that DNA being tested was provided by person purchasing the test? Challenge of identity verification. #FDADTC
• Panel distinguishing b/w studies testing for anxiety due to DTC (we have some) & long-term outcome DTC studies (we have none) #FDADTC
• Panel grilling Gulcher of deCode re: whether DTC results in harms. Gulcher agrees we need more long-term data, but no harms so far. #FDADTC
• AG: data owned by consumer; can be downloaded directly “Your data is your data” @23andMe also conducts opt-in research, internal R&D #FDADTC
• #FDADTC panelists now have opportunity to question the last group of speakers. First q, to AG: where does DTC data go & who owns it? #FDADTC
• AM: arguing for increase in funding, genetic testing training for nurses. (Another good point, but not sure FDA’s decision) #FDADTC
• AM: concerned about CLIA’s lack of PT for genetic testing, different pathways for IVD kits, LDTs (imp points, but more #FDALDT than #FDADTC)
• AM: focus on 1) role of nurses (largest HC gropu) in genetic testing, 2) who should order & 3) ANA perspective on DTC model #FDADTC
• Now up, Ann Maradiegue, George Mason (http://bit.ly/hpA5kY), presenting on behalf of American Nurses Association #FDADTC
• DK: major limitations of the study – no longitudinal data; pressing need to collect more / longitudinal / outcomes data #FDADTC
• DK now providing more detail re: how GPPC evaluated DTC misunderstanding. 4% confused about high-risk, 7% confused about low-risk. #FDADTC
• DK: limitations of survey – single point-in-time, no follow-up; no data on specific tests, only aggregate data #FDADTC
• (Here’s a better link to the GPPC data presented at ASHG in 2010: http://bit.ly/hdoAK0 #FDADTC)
• Now up, David Kaufman, JHU Genetics & Public Policy Center. Discussing DTC survey results from 2010 ASHG mtg: http://bit.ly/eTofcV #FDADTC
• JG reading directly from CRG’s public record comments. You can find those here: http://bit.ly/dGvMH5 (so won’t live-tweet this one) #FDADTC
• Now up, Jeremy Gruber, Pres of Council for Responsible for Genetics #FDADTC
• LB: market forces will ultimately eliminate genetic tests that are not valuable; but (reasonable) oversight still needed #FDADTC
• (LB’s def of genetic test is a single indication/intended use. Result: many tests will be dozens->hundreds->thousands of tests #FDADTC)
• LB: high-risk tests should not be DTC; low- & moderate-risk tests should be registered w/ FDA & be conducted in a CLIA lab #FDADTC
• (LB outlining a proposal for DTC regulation that sounds very similar to risk-based approach FDA discussed for LDTs last summer #FDADTC)
• LB: FDA interested in protecting public health; arguing “empowering individuals to maintain good health is in the public interest” #FDADTC
• (Note Interleukin is one of a very few publicly traded companies offering clinical DTC genetic testing – possibly the only one? #FDADTC)
• Now up, Lewis Bender, CEO of Interleukin Genetics (co offers single-condition DTC tests) #FDADTC
• AG: “genetic information provided DTC should be held to the same standards as genetic information provided in a clinical setting.” #FDADTC
• AG: urging flexible, forward-looking policy & regulation. Proposing a working group for defining clinical validity #FDADTC
• AG: regulation needs to be based on data, not on unsubstantiated fears/concerns; also need to recognize benefits of DTC #FDADTC
• AG: we have >75K genotyped customers, and we have no evidence that there are real, demonstrable risks from DTC genetic testing #FDADTC
• AG: we believe people have a “fundamental right” to access their own DNA. That right incl accurate, reliable genetic information #FDADTC
• AG: we consider ourselves industry leaders w/ regard to transparency, but always room for improvement. Opp for better edu, clarity #FDADTC
• AG: we use definitions/disclaimers – we are clear about what we do/do not test for; highlighting info comm tools #FDADTC
• AG: highlight the likely transition from genotyping to whole-genome sequencing; will impact how we think of validity #FDADTC
• AG: reg framework for all genetic testing cos (not just DTC) need clear standards for analytical, clinical validity #FDADTC
• You can find AG/@23andMe slides here: ( http://bit.ly/dLnFzJ ) AG: working w/ FDA on regulation, believe we have a path to approval #FDADTC
• Now up, Ashley Gould, GC of @23andMe #FDADTC (for those not here, the public presentations are very short, rushed)
• JG sharing his personal encounter with genetic testing/healthcare. Information DTC, but actual treatment requires clinician #FDADTC
• Written public comments in favor of DTC: http://1.usa.gov/eB9gMe (Mary Pendergast), http://1.usa.gov/ffgVf7 (Kevin Davies) #FDATDTC HT @shwu
• #FDADTC resumes with public presentations. First is from Jeff Gulcher of @decodegenetics re: DTC genetics for common diseases
• Damn good question. RT @wimufi: FDA staff not supposed to discuss topic, among themselves or with public, during lunch … Why? #FDADTC
• (Taking a lunch break at #FDADTC. “Open public hearing” starts after lunch. See: http://1.usa.gov/evayRl)
• (On physicians and genetic testing, take a look at this from @pgx_reporter: http://bit.ly/eBaokC – although not necessarily DTC
• Q: what about studies examining response of physicians to genetic testing results, incl DTC? CB: not aware of anything specific #FDADTC
• Q: how was @Navigenics chosen as the test for the Scripps study? CB: @EricTopol approached major DTC companies, Navi was interested #FDADTC
• CB says findings are consistent w/ existing lit on impact of genetic testing (not just DTC). (That’s true, but very ltd data) #FDADTC
• Panel pressing CB on very short (3 mo) time between testing & follow-up. CB agrees it’s a very fair point #FDADTC
• CB: overall result of DTC genetic testing in the Scripps population? Not a large impact one way or the other #FDADTC
• CB: sharing test results w/ physician was associated w/ some changes (e.g., exercise); sharing w/ GCs did not. But needs follow up #FDADTC
• CB: sharing test results with healthcare providers? Only 10% sought (free) genetic counseling; >25% shared results w/ physician #FDADTC
• CB: changes in behavior as result of screening? plenty of intent to change, but not nearly as much actual change #FDADTC
• CB: showing data on anxiety levels resulting from testing for different sub-groups; general lack of increase in anxiety in cohort #FDADTC
• CB: 5,000 enrolled, 3,400 viewed results, just over half were avail for follow up #FDADTC
• CB: a second disclaimer, while showing @Navigenics screenshots, that Scripps did not evaluate the Navi product itself #FDADTC
• (CB describing use of Navigenics test in Scripps study; keep in mind that this was the test version circa 2008 #FDADTC)
• CB: also unlike Multiplex Initiative, Scripps study was not free to participants – prices ranged from ~$150-$500 #FDADTC
• CB: sample was limited, not selected from within known population (as was the case with Multiplex Initiative) #FDADTC
• CB: emphasizes that the study did not evaluate the Navigenics test that was used for SGHI (incl. clinical validity, etc. of test) #FDADTC
• CB: lack of data on consumer response to DTC; that’s where Scripps Genomic Health Initiative (SGHI) comes in http://1.usa.gov/fDJyoy #FDADTC
• CB: presenting data from the Scripps/NEJM DTC study. Starting with overview of “personal consumer genetics” #FDADTC
• Final speaker of the morning: Dr. Cinammon Bloss speaking about recent Scripps/NEJM (http://bit.ly/hUIuBi) HT @EricTopol
• CM: MI emphasized that genetics only part of the story; need to also have full family history, talk to healthcare provider #FDADTC
• CM: MI was free, used a limited set of markers/traits, all participants were insured. #FDADTC
• CM: BUT the Multiplex Initiative has several crucial differences from current commercial DTC genetic tests. #FDADTC
• CM: public *should* be able to understand limits of genetic testing. (We are obliged to give them info needed to understand) #FDADTC
• CM: recommendations from Multiplex Initiative for DTC? DTC “may be OK” if appropriate presentation of results, pros/cons & support #FDADTC
• CM: take home messages: 3) testers can understand the limits of tests, feedback following testing #FDADTC
• CM: take home messages: 1) lots of self-selection in pop’n 2) effective communication provides adequate support #FDADTC
• CM: not a high level of emotions resulting from participating, but where expressed they were general positive #FDADTC
• CM: w/ prompting, “virtually everyone” could describe whether or not they had a particular variant for a particular health condition #FDADTC
• CM: followed up with participants to evaluate their unprompted/prompted recall of pers results from MI – great idea #FDAMTC
• CM: low-education, male were traits that reduced participation in MI #FDADTC
• CM: taking pains to point out that MI was not a study of the “worried well”, though did have high understanding of genetics #FDADTC
• CM: detailed review of multiplex initiative study aims, designs #FDADTC (Background info here: http://1.usa.gov/hXOUzX)
• CM: involved oversampling of traditionally under-represented groups in genetic testing #FDADTC
• CM: Multiplex Initiated in light of arrival of DTC. Develop an ideal pop’n sample: eliminate barriers, ensure informed consent #FDADTC
• Now up: Colleen McBride, NHGRI, talking about Multiplex Initiative #FDADTC
• (I’m speaking next at #FDADTC so won’t be Tweeting – I can multi-task, but not quite that well. My slides are here: http://bit.ly/fcPUyI)
• NW ultimately making standard arg. for involvement of healthcare providers in DTC. But her exs, evidence leave much to be desired #FDADTC
• True. RT @aliciaault: Wexler did start out describing her biases on testing: family hist of HD & basic bias against industry. #FDADTC
• Panel member pressing NW on her paternalistic stance – denying individuals access to genetic information. #FDADTC
• NW: people don’t understand genetic testing; we need to pull back on all of this. No more “spit parties” #FDADTC (The rhetoric continues)
• (Respect NW’s contributions to science but cannot credit her understanding or analysis of where DTC is or what it’s motivations are #FDADTC)
• NW accuses DTC of “raping the human genome project” (did I possibly hear that correctly? can anyone confirm?) #FDADTC
• NW: DTC companies should be closed and DTC should be eliminated. DTC preys on our worst aspects, prey on snobbery & the rich #FDADTC
• (For ref: MyGeneProfile is a Singapore-based company & a pure scam. #FDADTC needs to address this, but hardly representative of industry)
• NW now moving on to GAO report on DTC genetic testing #FDADTC
• (Disappointed that NW drawing all of her conclusion about state, risks of DTC from MyGeneProfile #FDADTC)
• (My opinion: irresponsible of NW. Not a US company, not representative of DTC. Not even sure MyGeneProfile is an actual company. #FDADTC)
• NW is now showing MyGeneProfile (complete genetic scam, see @dgmacarthur: http://bit.ly/f58AYH) as representative of risks of DTC #FDADTC
• NW drawing direct line b/w exp. of friend w/ HD who committed suicide to DTC tests on shelves of Wal-Mart. I can’t make that jump #FDADTC
• NW speaking broadly about HD testing concerns. Share many, but agree w/ @lindaavey that not best model w/ which to debate #FDADTC oversight
• That doesn’t surprise me – I don’t know of any. RT @DNAlawyer: @genomicslawyer No huntington DTC test at of 5/2010: http://bit.ly/dSSAIf
• (Not aware of any providers offering testing for Huntington’s DTC. #FDADTC)
• NW: describing guidelines for Huntington’s Disease testing, including privacy & informed consent requirements. #FDADTC
• (RT @mary_carmichael: As #FDADTC gets hashed out, @virginiahughes takes a thoughtful tour of her @23andMe results: http://bit.ly/hqTwxM)
• NW focusing on Huntington’s disease gene discovery, a process in which she was instrumental. #FDADTC
• NW now describing her involvement in, history of the Hereditary Disease Foundation: http://bit.ly/gBF15R #FDADTC
• NW speaking personally, with own biases/fears. But believes those are shared by everyone with DNA. (Not sure I agree. At all.) #FDADTC
• Now up at #FDADTC, Dr. Nancy Wexler, Columbia: “Toxic Information: Handle With Care”
• (GLR post from 1 year ago, on why markers of DTC industry failure aren’t really: http://bit.ly/dtqTes Analysis hasn’t changed since #FDADTC)
• SH: thinks the fact we have no data is indicative of lack of enforcement – regulation improves data-gathering #FDADTC
• Q for SH: do we know anything about volume of cross-border activity for DTC genetic testing? SH: no. (I’d give same answer) #FDADTC
• Q for SH: why does UK have such a light touch on DTC? SH: historical (e.g., eugenics) & cultural factors are stronger elsewhere #FDADTC
• Questions from panel to SH focusing on appropriateness of clinical utility as a standard for DTC genetic testing regulation #FDADTC
• SH’s closing thought: “let’s try to avoid disaster” (although not clear what, exactly, the disaster to be averted is) #FDADTC
• (I disagree fairly strongly w/ SH on that point. @23andMe continues to raise money, deCodes bankruptcy not tied to DTC, etc. #FDADTC)
• SH: arguing DTC doesn’t work by pointing to Sciona struggles, @23andMe layoffs & @decodegenetics bankruptcy. #FDADTC
• SH: thinks enforcement will grow if DTC market grows, but SH skeptical that DTC will stick. Thinks business model entirely unproven #FDADTC
• SH’s conclusions: # of DTC companies, countries regulating DTC both increasing. But rulemaking, guidance does not equal enforcement #FDADTC
• SH: like SACGHS, HGC now being wound up. UK may be unique in world in diminishing its oversight of DTC over the past 15 years #FDADTC
• SH: key issue of divergence: tests need to be delivered w/ clinical supervision? (Agree: the most contentious issue in US too) #FDADTC
• SH: main reason HGC went with guiding principles as opposed to (binding) code of practice? Nobody to enforce code of practice #FDADTC
• SH: the revised HGC recommendations were designed with an int’l market in mind, along with participation from DTC industry #FDADTC
• HGC updated its report, recommendations last year w/ “A Common Framework of Principles for DTC genetic testing http://bit.ly/ePPe6j #FDADTC
• SH describing story of Sciona, HGC public consultation on DTC genetic testing (see: http://bit.ly/eOVKf7) #FDADTC HT @eurogene @RDGene
• SH shifting now to soft law approaches: voluntary codes of practices, guidelines, etc. UK has engaged this route frequently #FDADTC
• (Australia’s model is what FDA’s LDT guidance could very well resemble see: http://bit.ly/b8Fr3j #FDADTC)
• SH: TGA participates in standard setting, can intervene if there is a concern. #FDADTC
• SH: AUS classed LDTs as med devices; high-risk reviewed by TGA (FDA equiv); med- & low-risk registered w/ TGA, eval by industry. #FDADTC
• SH now looking at Australia’s new IVD regulatory framework; restricts certain types of IVD self-testing (incl. genetic traits) #FDADTC
• SH: European Commission has suggested there might need to be special measures for DTC genetic testing #FDADTC
• SH’s overview of EU device regulations – the current ones aren’t very good; but European Commission attempting to strengthen #FDADTC
• SH: if we want to stop “bad tests getting on the market” we need to look to IVD regulations. Comparing EU, AUS, US #FDADTC
• SH: does not know of any enforcement activity of genetic testing regs in any of these countries, apart from South Korea #FDADTC
• SH: common themes: restrictions on who can test, standards on genetic testing, some tests more imp than others (e.g., screening) #FDADTC
• SH: South Korea apparently has a blanket ban on DTC genetic testing #FDALDT
• (Incidentally, I agree with SH: sometimes surprisingly difficult to get info on int’l regulatory developments, esp outside of EU #FDADTC)
• SH now flitting out of Europe & over to South Korea (although caveats that he has not confirmed the data); SK banning some tests #FDADTC
• SH: most recent piece of legislation is Germany’s genetic diagnosis act. (For detailed GLR coverage, see here: http://bit.ly/gXMgkg) #FDADTC
• (Most of the legislation/regulation SH is discussing also share common themes of informed consent, clinician involvement, bioethics #FDADTC)
• (Note that most of the legislation SH is discussing is quite old, esp by DTC timelines – e.g., Belgium’s dates from ’87 #FDADTC)
• SH now shifting to nat’l legislation efforts on genetic testing (mostly in Europe) – whirlwind tour #FDADTC
• SH: Current status of CoE protocol? So far only 5 member states have signed protocol, & only 1 has ratified. So not yet implemented #FDADTC
• SH: CoE generally permits genetic testing only w/ direct clinical supervision; some exceptions, but not if clear clinical importance #FDADTC
• SH’s next stop: Council of Europe Additional Protocol on Genetic Testing (2008, see http://bit.ly/i8ReIE) #FDADTC
• SH: OECD now discussing how to revise guidelines. One q: is WGS opening up new issues that require revision? (My answer: absolutely) #FDADTC
• SH: int’l treaties standards developed. Starting w/ proposal from OECD (see: http://bit.ly/fS7I27) & supplement implementation #FDADTC
• SH tackling recent developments from all over the world – Germany, UK, Japan, Aus. (Ambitious proj, given diversity of approaches) #FDADTC
• SH: what are our options? Do nothing; ban it; or set some rules (feat. a slide with 10 commandments. FDA guidance from on high?) #FDADTC
• SH: outlining gaps in regulations, including devices, labs. Many countries don’t have anything as comprehensive as CLIA. #FDADTC
• SH: where does DTC fit in existing regulatory landscape: med devices (FDA), lab devices (CLIA), codes of practice (soft law) #FDADTC
• SH: DTC has become focal point for regulation of genetic testing – a debate that dates to at least the 90s (IOM report) #FDADTC
• Now up at #FDADTC, Dr. Stuart Hogarth, Kings College on “Regulating consumer genetics – an overview of global trends”
• DTC company @23andMe has posted its presentation materials in advance of #FDADTC meeting: http://bit.ly/dLnFzJ
• TM: “I’m not that familiar with the type of claims these [DTC] companies are making” #FDADTC
• Thankfully, #FDADTC panel now pressing TM for how DTC is using this GWAS data, whether DTC cos’ claims match the data
• (TM finishes w/, by my count, a single tangential ref to DTC. Think a missed opportunity to tie NHGRI’s scientific expertise to #FDADTC)
• TM: several limitations of GWAS-identified markers for risk assessment – non-determinitive, don’t explain full variability, etc. #FDADTC
• TM now moving on to “the case of the missing heritability” at #FDADTC, with nice HT to @bmahersciwriter
• (TM’s comments on GWAS/SNP discovery also yet to address relationship to DTC – what is being tested, quality of testing, etc. #FDADTC)
• (TM’s talk on history/state of GWAS quite comprehensive. Let’s hope she turns forward to WGS tech, implications before time is up #FDADTC)
• “Cue Music: stuck in a (regulatory) moment. The FDA & oversight of DTC genetic tests” http://bit.ly/eCKjvv @DNAlawyer’s thoughts on #FDADTC
• TM now discussing HapMap. Diving deep into underlying science (although slides on HapMap, seq cost, GWAS associations 4 years old) #FDADTC
• TM: providing the panel with a high-level overview of GWAS methodology, progress over past 5-10 years. (Reflects diversity of #FDADTC panel)
• Now up at #FDADTC, Teri Manolio from NHGRI. Starts w/ scientific basis – relationship between GWAS and DTC
• Panel q: what is a “medical claim”? LM: any claim that arises from a device deemed to be a medical device under FDA regs #FDADTC
• (So does that mean LM/FDA have determined that anything DTC is inherently a medical device & subject to related regulations? #FDADTC)
• LM: we have “already determined” that “enforcement discretion” is not an appropriate model for DTC testing #FDADTC
• LM: very difficult for FDA to track the DTC market; continually having to scan the web & other sources to determine who is out there #FDADTC
• Panel q for LM: how “massive” is this DTC problem, really? LM: were far more companies; believe a number have left DTC model behind #FDADTC
• (Overall, LM’s talk comprehensive background, well-balanced. FDA hitting right notes at opening of #FDADTC)
• Panel q to LM: is the consumer the person ordering the test, or the person whose DNA is tested? LM: expects them to be the same… #FDADTC
• (You can find full text of 3 questions to #FDADTC panel on pg 4/6 here: http://1.usa.gov/h6WYm3)
• LM: 3 primary qs to panel: risks/benefits of (1) clinical DTC w/out MD, (2) possible misunderstanding, (3) scientific standards #FDADTC
• LM: so why is FDA here? To here discussion/perspectives from panel, public. Wants discussion of “difficult issues” in #FDADTC
• LM: FDA must do this while keeping up with technology, promoting innovation #FDADTC
• LM: regardless of who orders a test, it is essential that FDA determine medical claims are correct & valid #FDADTC
• LM: WGS now “widely available” – WGS platforms’ performance not well understood; none are cleared by FDA #FDADTC [though cos working on it]
• LM providing overview of tests avail DTC, incl. clinical/non-clinical distinction. FDA focused on tests meeting def of med device #FDADTC
• (Good to see Mansfield acknowledge inevitability of WGS, changes in DTC models/marketplace. #FDADTC)
• LM: number of DTC companies has “likely narrowed” due to FDA’s oversight; but technologies (inc. WGS) are changing the field #FDADTC
• LM: working w/ DTC companies to comply with medical device regulations; has been a challenge for both FDA & companies #FDADTC
• LM: “There is a place for DTC genetic testing, but appropriate oversight should apply to [protect individuals]” #FDADTC
• LM: today, DTC remains as business model. Aware of various public positions pro/con on DTC. #FDADTC
• LM: on 2010 GAO report – “FDA briefed generally, not aware of specific findings in advance of House hearing” #FDADTC http://bit.ly/bfF7we
• LM: 2010, FDA sends numerous more “letters to industry” – many companies exit DTC market, others develop compliance plans w/ FDA #FDADTC
• LM: 2010, FDA learns of Pathway/Walgreens (http://bit.ly/uZQa9), sends “letter to industry” & meets w/ Pathway. Concl: DTC = risks #FDADTC
• LM: in 2009, FDA began sending “it has come to our attention letters” and meeting with DTC companies – cos claimed LDT status #FDADTC
• (For a fuller overview of the background Mansfield is providing, see this post http://bit.ly/hfZquo #FDADTC)
• LM: 2007, we moved beyond nutrigenetic; CLIA issues; state (NY/CA) enforcement #FDADTC
• LM: starting off the history of DTC, all the way back to…2006. (We haven’t been at this all that long) #FDADTC
• Mansfield: def of DTC: tests ordered directly by individual, w/out prescription; results received by individual without help of MD #FDADTC
• Now up, Dr. Liz Mansfield: “Why are we here? History and current landscape of DTC genetic tests” #FDADTC
• (Unfortunately, there is no live webcast at #FDADTC)
• Kicking off #FDADTC mtg here in DC: http://bit.ly/iiJIC0 Right now, reviewing exec summary: http://1.usa.gov/h6WYm3
• Also, for those who are interested, I’ve posted my #FDADTC slides in advance of tomorrow’s talk: http://bit.ly/fcPUyI
• GLR Post: Charting a Path for DTC Oversight: http://bit.ly/iiJIC0 My thoughts in advance of the #FDADTC meeting
• RT @dgmacarthur: I adopt a tone of cautious optimism in advance of tomorrow’s FDA meeting on DTC genetics: http://bit.ly/fSkRYl
• Meeting materials for tomorrow’s #FDADTC mtg here: http://1.usa.gov/i24b7F If anybody knows of a webcast link, please lmk.

Regular tweets from the intersection of genomics, personalized medicine and the law:

• Interesting. Dx version would be welcome: MT @BiotechPatent: Bipartisan Congressional #MedTech Caucus launches website: http://bit.ly/fbUeil
• RT @matthewherper: A Cancer Patient’s Quest Hits DNA Pay Dirt — or why Kathy Giusty and 38 genomes are so important. http://ow.ly/4lEuE
• RT @LifeSciVC: Not all about Tech; >200 new healthcare, wellness & life sci startups on AngelList. Pretty cool. @naval http://ow.ly/4l3wW
• RT @pgx_reporter: Celera Will Add to Quest’s MDx Capabilities; But Reimbursement Questions Cloud Revenue Contribution: http://bit.ly/gxJOOZ
• Part 2 of @Xconomy guest post on who will pay for drug development: http://bit.ly/gpvD3j
• RT @genomesunzipped: How does adding extra genetic information change our disease risk? @anderson_carl finds out: http://bit.ly/g6X4C3
• RT @ldtimmerman: SV Life Sciences, flush w/new $500m fund, on the hazard of having lots of dough when VC is struggling. http://bit.ly/ekMwbu
• Venture capitalists (via NVCA) concerned about impact of patent reform on inventors, start-ups: http://bit.ly/ed4cqA Cont. to wait on House.
• GLR Post: Considering the Impact of Yet Another Proposal for Genetic Legislation http://bit.ly/egqzi8
• RT @InSequence: BGI’s Sequencing Projects Tackle Genetic Roots of Cancer and Disease, Reference Organism Assembly: http://bit.ly/fatypL
• What’s next for CardioDx? CAD test adoption (here & in BRIC countries) + more/predictive tests. But no IPO: http://bit.ly/hoXNCs
• AMA lashes out against DTC genetic testing: a “weapon” & the “unauthorized practice of medicine”: http://bit.ly/dGeMJk HT @5amsolutions
• RT @GenomeInstitute: @GenomeInstitute’s Dr. Elaine Mardis interviewed about latest breast cancer sequencing work http://bit.ly/hwK5Rr
• Sequence Analysis 101: A newbie’s guide to crunching next-gen seq data: http://bit.ly/gVX6CL feat @dgmacarthur HT @gw_dailyscan
• Who’s Going to Pay for Future Drug Development (Part 1): http://bit.ly/fGV0Q8 in @Xconomy
• RT @dgmacarthur: Cool – @23andMe has used its participant data to find novel genetic associations with Parkinson’s: http://bit.ly/fvYENB
• Alnylam, UMass, and Others Settle RNAi Patent Litigation: http://bit.ly/dRjafg (from 3/15)
• Missed @Xconomy interview by @BVBigelow w/ social networking researcher James Fowler, who is working w/ @23andMe: http://bit.ly/esnwEV
• Thoughts from CardioDx, Genomic Health & others on challenges of commercializing genomic diagnostics (from 3/16): http://bit.ly/e1r6F6
• A reminder from @DNAlawyer that not all gov’t regulation (incl. #FDADTC) is necessarily authorized or unchallengeable: http://bit.ly/hBPzO9
• RT @GenomeWeb_News: AstraZeneca, @Sagebio Partner on Cancer Therapeutic Development: http://bit.ly/dIrFdK
• Last wk’s House jobs forum reminder some in DC see #FDADTC regulation as inhibiting job creation: http://bit.ly/fjLXwJ cc @PathwayGenomics
• Report from @PHGFoundation: Fair access to genetics needed in mainstream medical services http://bit.ly/dSSD7k
• RT @drjonboyg: get this job & be my boss. MT @girlscientist: Job open: NHGRI, Chief Policy & Program Analysis Branch http://is.gd/FBHOED
• Guest Post by @Navigenics GC: “Breast Cancer Counseling: Personalizing Med. Beyond BRCA Testing” http://tinyurl.com/65tct3o cc @alliejanson
• A new DTC entrant: RT @Lumigenix: Until 3/31 our Introductory kit is only $99 USD (normally $279). http://bit.ly/fVU7UK
• RT @genomesunzipped: Analysing your own genome, bloggers respond to the FDA and more reporting on bogus GWAS results http://bit.ly/fP4FtK
• RT @InSequence: BioNanomatrix Pockets $23.3M in Series B Funding http://bit.ly/fO9jHb
• BTW, that may be 1st attempt I’ve seen at valuing a personal genome. $20/day + 10% of earnings for an @kennethreitz clone
• Another github genome, this time with an extremely forward-thinking (& ambitious) license provision: http://bit.ly/i5h6Ev
• Looking forward to the first Science Online NYC event next month: http://bit.ly/eAr3tX cc @S_O_NYC #sonyc
• More $ for OCR necessary? 250 breaches affecting >500 ppl (http://1.usa.gov/bxVDO3) & >10K total breaches say yes.
• OCR requests an additional $5.6M for HIPAA/HITECH enforcement: http://bit.ly/eMBBFp
• RT @PersonalizedMed: Take home msg from HUGO 2011 Dubai: global community in #genomicmedicine engaged , growing, active, entrepreneurial
• An admittedly cynical take on angel investing RT @JCainHart: The Top 12 Lies Angels Tell | http://read.bi/fTzZHM
• A first look at HBM’s survey of ’10 Biotech M&A trends by @LifeSciVC: http://bit.ly/eEw5ie More deals, smaller buyers, worrying multiples
• A look at Europe’s complicated regulatory environment for genetic testing in EJHG: http://bit.ly/gT8AEI congrats to lead author @eurogene
• Good to see BGI (@BGI_Events) taking on ethical challenges of WGS & personal genomics: http://bit.ly/erSNKs cc @PGorg
• RT @GenomeWeb_News: JGI Taking Proposals for Sequencing Projects: http://bit.ly/hU2zfv
• RT @GenomeWeb_News: Ambry Genetics, LABS Partner on Genetic Testing: http://bit.ly/hniLM5
• “The Structure of the MedTech Innovation Ecosystem” http://bit.ly/eqogIh Interesting slidedeck by Josh Makower HT @dgmacarthur
• Obama to push for privacy bill of rights (http://on.wsj.com/fG3THT). Will it encompass genetic privacy rights (http://bit.ly/i9fIT5)?
• Uninformed Consent: Tech Solutions for Faulty Permissions in Health Care http://bit.ly/gloWak in @sciam HT @jasonbobe
• GLR Post: Is the Genetics Rights Movement Picking Up Steam? http://bit.ly/i9fIT5 (review of VT legislative proposal)
• RT @CAPDCAdvocacy: AMA releases proposed molecular pathology codes for stakeholder review: http://tinyurl.com/45uw32w
• Including a “buy” for $MYGN: RT @GenomeWeb_News: Investment Firm Jefferies resumes coverage on 8 MDx & other firms: http://bit.ly/gzi0JD
• Having struck out w/ Bayh-Dole (http://bit.ly/ge6VUZ), Fabry patients file class action suit against $GENZ, Mt. Sinai: http://bit.ly/ghc6bE
• Agreed! A great day & very timely discussion. RT @PersonalizedMed: @genomicslawyer thanks for a great day today @DukeIGSP
• RT @girlscientist: Genetics Society of America launches “fully open access journal, with data availability” http://www.g3journal.org
• Wonder who’s buying at $9,500. RT @shwu: “Consumers can’t decode genomics-based tests on their own” says survey: http://bit.ly/fm9LNO
• RT @GENbio: North Carolina & MD trying to create new funds designed to assist life science start-ups. http://bit.ly/fcnXrV cc @JCainHart
• RT @LifeSciVC: More on $50M Slate drug cost to NDA “Choose your Own Numbers: Crowdsourcing Cost-to-Produce a new Drug?” http://bit.ly/hMya4G
• $GNOM Expects to Ship >500 Genomes in Q1, Plans to Break $5K Genome Price by Year-End: http://bit.ly/fsTnFc via @InSequence
• RT @EdwardWinstead: Making Genome Sequencing Part of Clinical Care http://bit.ly/eBFFtL by @emilysinger via @EricTopol
• RT @ldtimmerman: Gates Foundation makes 1st direct equity investment in a biotech co, Liquidia Technologies. http://bit.ly/fwyfIq
• RT @David_Dobbs: Buckle up. RT @dgmacarthur: Watching James Watson present to packed house … in Francis Crick auditorium @sangerinstitute.
• RT @pgx_reporter: Goldman Analyst: $MYGN’s Stock Buyback Suggests Slowing Organic Growth: http://bit.ly/fqXDnR
• RT @dgmacarthur: Five more @23andMe data-sets in the public domain: @manuelcorpas and family follow @genomesunzipped: http://nblo.gs/f6YjM
• RT @genomesunzipped: Our raw genetic data are now officially in the public domain, under Creative Commons CC0: http://bit.ly/gWDiUR
• RT @jasonbobe: GET 2011 @ UPenn, speakers incl Goldstein (Duke), Pe’er (Columbia), Drmanac (CGI) & Church (Harvard): www.getconference.org
• Dell survey: Patients like idea of health IT & digital data (81%), even as concerned about privacy (69%) http://bit.ly/fNjoI2 HT @cwhogg
• Sad but true: “best-case scenario” RT @NatureNews Modest cuts for science in Senate compromise bill http://goo.gl/fb/BXkxN
• TED not on today’s agenda? Go see @MishaAngrist at BIL instead: http://on.wsj.com/gQFI0y
• RT @genomesunzipped: Inbreeding around the world, gene-environment interactions and sales of genetic tests: http://bit.ly/dYp6y6
• RT @FierceBiotech: Careers in biotech ranked as the No. 1 happiest job in America. http://on.msnbc.com/hJpa98
• RT @GenomeWeb_News: Europe, EMBL Pledge Continued Partnership: http://bit.ly/g8csIF
• RT @MattMealiffeMD: #FoGMIV: increasing # of studies show N=1 seq of individual pt’s tumors yield info w/ at least quasi-clinical importance
• Fighting Gravity in Venture-Backed Biotech Returns: http://bit.ly/g8G7Ds by @LifeSciVC
• RT @bigs: RT @raymondmccauley: Audience doc: Why “patients”, “consumers”, “organizers”? We’re all just people, looking at ourselves. #FoGM11
• RT @GenomeWeb_News: Patent Reform on Cusp of Senate Passage: http://bit.ly/hgLX5I
• RT @InSequence: Affymetrix Dismisses Lawsuit against PacBio, Former Employees: http://bit.ly/g6r78H

1. Will the $1,000 genome live up to the hype?

2. Will personal genomics stay DTC?

3. How will the ongoing gene patent debate affect the progress of personalized medicine?

4. When and where will the next regulatory shoe fall?

5. Who will control the data?

A year later the question that comes first to mind is, has anything really changed?

The short answer is no, not fundamentally, although that is not meant to imply that nothing of note happened in 2010. Far from it, as significant legal, regulatory, policy and technological developments continued to reshape the personal genomics landscape.

With that in mind, we welcome 2011 with a look back at the year that was, and a look ahead at what to expect from 2011 and beyond.

The $1,000 Genome. With the draft human genome sequence turning 10 this past year, numerous media outlets reflected on the contributions of genomics and personalized medicine over the past decade. A frequent focal point – and measure of success – was the march toward what Keith Robison has termed the “arbimagical goal” of the $1,000 genome. Companies and investors continue to be enamored of low-cost, high-throughput genome sequencing, as evidenced in part by the IPOs of Complete Genomics and Pacific Biosciences this past fall.

At the same time, as we’ve written previously, the goal is not inexpensive genomics, but personal genomics. What matters is not how much it costs to generate a genome sequence (i.e., raw data), but what you can do with that genome once you have it. Thus, genomics is only personal once both the data and the interpretation are individually tailored.

2011 seems likely to be the year in which we finally crack the $1,000 barrier for a data-only genome, driven in large part by continued advances in sequencing technology, including Ion Torrent’s new Personal Genome Machine. But interpreting the data is another story. Already the dominant meme of 2011 is: “$1,000 genome; $100,000 analysis?”

If you’re waiting for a $1,000 genome delivered by your doctor, complete with advice about how to use the data to improve your health, Matthew Herper of Forbes advises you not to hold your breath. Likewise, analyst Amanda Murphy of the investment firm William Blair, believes that “the wide-scale incorporation of whole genome sequencing into the clinical realm is 10 or more years away.” Herper, Murphy and others think interpreted, clinical-grade genomes are going to remain elusive and expensive, particularly in the short-term and certainly for 2011. At Genetic Future, Daniel MacArthur largely agrees, but notes that for consumers willing to take more of a do-it-yourself approach, a $1,000 genome is a distinct and near-term possibility.

By 2012, motivated do-it-yourself (DIY) genomics pioneers like MacArthur will be able to locate cheap data and free or nearly-free tools to help make sense of that data for around $1,000 (not counting their own labor costs). And patients with an acute clinical need, particularly sufferers of cancer and certain rare diseases, will find that genomics plays an increasingly important role in their care, with insurers or even researchers or healthcare providers bearing the brunt of the cost.

However, the majority of us – non-scientists and generally healthy – are likely to find that full-genome sequences continue to remain just out of reach. With the combined cost of obtaining both complete genomic data and a layperson-accessible, reasonably accurate and personalized interpretation of that data remaining well north of $1,000 through 2011 and beyond, the number of consumers who choose to plunge into their full genomes will remain comparatively small. Most individuals will opt to dip their toe in the gene pool, paying several hundred dollars for a more modestly-sized chunk of personalized genomic data (e.g., the 1,000,000+ SNPs genotyped and analyzed by the likes of 23andMe) while they wait for either a clinical (and reimbursable) need to sequence or the cost of an interpreted personal genome to fall further.

As Yogi might say, the $1,000 genome may arrive this year, but it will still cost more than a grand, at least for most of us.

DTC Personal Genomics. For many, “personal genomics” is synonymous with “direct-to-consumer (DTC) genomics.” But despite the continued decline in the cost of genomic data, we begin 2011 with fewer significant providers of DTC genomic services than at the start of 2010.

The major developments have been covered extensively here at the Genomics Law Report. From the Pathway/Walgreens kerfuffle (and the FDA’s response) to the Congressional hearing and critical GAO report (and the FDA’s response), 2010 was certainly a tough year in Washington for DTC companies. (For a complete recap see: The Past, Present and Future of DTC Genetic Testing Regulation.)

While some erstwhile DTC providers (in particular Navigenics and Pathway Genomics) have, at least for the time being, shelved the consumer-facing side of their business, others continue to push forward. 23andMe remains the DTC front-runner, recently raising funds from both venture capitalists and the National Institutes of Health, but a handful of other DTC providers (including deCODE genetics) continue to offer products while a new generation of DIY genomics companies and researchers strive to put genetic data directly into the hands of increasingly large numbers of individuals.

For all of the apparent interest in DTC genomics from Congress and the FDA, the reality is that neither has yet articulated a clear plan to regulate that industry and, at the same time, both lawmakers and the regulators have bigger fish to fry in 2011. DTC personal genomics providers and their tests represent a mere fraction of the laboratory developed tests (LDTs) the FDA has vowed to regulate more aggressively and expansively than ever before (more on this below).

More importantly, the market for DTC personal genomics pales in comparison (at least in terms of market size and clinical importance, although perhaps not necessarily media coverage) to a host of other pressing issues facing Congress, the FDA and other regulatory agencies in 2011. These include, in no special order, the development, regulation and reimbursement of companion and other advanced diagnostics, follow-on biologics, how to deal with a rise in genomic data in regulatory submissions and what to do about whole-genome sequencing in particular and, of course, the fate of the healthcare reform legislation.

Remember, too, that following the recent mid-term election there will be personnel turnover in Washington as well. To cite two examples: the FDA’s No. 2 official, Joshua Sharfstein, has already resigned and one of the most vocal critics of DTC genetic testing during last summer’s House hearing, Congressman Parker Griffith – who compared providing genetic information to consumers with throwing live snakes into a crowded hearing room: useful only to incite panic – failed to win reelection.

Stepping back to view the prospect of DTC genetic testing regulation through this broader lens helps explain why, despite continuing uncertainty and ominous regulatory overtures, the DTC industry is likely to survive 2011 intact. Just as it did in 2010.

That is not to say that industry will not face increased scrutiny in 2011; or that this would be a bad thing.

There continues to be a clear need for more industry transparency, as well as heightened regulation of the advertising and marketing practices of existing genetic testing companies. The arrival of the NIH’s genetic testing registry (GTR), although not without its own critics, remains slated to arrive this spring. The GTR, along with increased enforcement of existing regulations from agencies like the FDA and the FTC, could do much to put a halt to true consumer abuses in the DTC personal genomics market.

There is also a widespread recognition that the DTC industry would benefit from greater standardization. A primary need is for greater definitional clarity. Terms like “DTC genomics” and “DIY genomics” frequently receive user-defined and inconsistent definitions, and no regulation – whether government- or self-imposed – will be practical until this terminological confusion is resolved. More substantively, there is a clear need to develop data standards, including both a standard format for returning genomic data as well as for interpreting and reporting those data. While DTC companies have frequently expressed interest in pursuing the latter, including in cooperation with federal agencies, considerable progress in all of these areas still needs to be made.

Of course, while unlikely, it remains a possibility that regulators or lawmakers will succeed in directly regulating DTC personal genomics in 2011. This could happen as part of the broader LDT regulatory movement or, more likely, take the form of narrower and more targeted regulatory requirements, such as interposing a physician or genetic counselor between the company and consumer at the ordering and/or data delivery stage. Or the FDA could always come up with some other out-of-the-box approach to DTC regulation.

Nevertheless, as we enter 2011 it remains legal throughout most of the United States to provide healthy individuals with direct access to their personal genomic data. While that is not the case worldwide, technological innovation and the proliferation of genomic data and of DIY genomic tools will drive continued growth and diversification of the DTC personal genomics landscape in the United States in 2011 and beyond.

Gene Patents. Without question, last year’s biggest story was – and continues to be – the ongoing Myriad gene patent litigation. Judge Robert Sweet’s jaw-dropping district court decision invalidated Myriad’s challenged patents across the board, for the moment, and thrust the debate further into the public and political spotlight than ever before.

While we entered 2010 anticipating a decision in Myriad, as well as in other important litigation (notably Prometheus and Bilski), we wrote that “there is little reason to believe that 2010 will be the year that the gene patent question will be finally resolved.” And we’re fully prepared to say the exact same thing in 2011 (and possibly in 2012, as well).

Those who first caught wind of the gene patent issue in March of 2010 (when Sweet’s opinion issued) may find it inconceivable that by the end of 2011 – a full 21 months later – there could be no resolution. But courts move slowly, and with the Supreme Court choosing once again to ignore biotechnology patents (the Supremes issued a heavily hyped Bilski opinion that proved to be just hype, and little more), the Federal Circuit rehearing Prometheus and saying exactly what it said in 2009 and the Myriad litigation in all likelihood multiple appeals from reaching its conclusion, a definitive answer does not appear imminent. Those waiting on the courts to resolve the patentability of genes or the increasingly important diagnostic methods at issue in Myriad, as well as Prometheus and Classen, are going to be forced to keep waiting.

Still, just as in 2010, 2011 will see its share of high-profile gene patent opinions issuing from courts. The most eagerly anticipated is the Federal Circuit’s Myriad opinion, which is expected in late spring or early summer. But the likelihood that Myriad or any other legal opinion will bring substantial and lasting clarity to the patentability of genes and related diagnostic methods in 2011 is slim.

However, not all parties are likely to be content to sit idly by and wait for the courts to decide (or not) the issue of gene patents. 2010 saw the publication of the highly publicized and equally controversial SACGHS report on gene patents and licensing. The report sparked plenty of conversation in biotechnology industry and policy circles and, though the SACGHS was disbanded later in 2010, those conversations have not quieted (as evidenced, in part, by the Justice Department’s unexpected amicus brief in Myriad). As genomic sequencing and diagnostic tools play an increasingly prominent role in clinical care, the role of patents – as either facilitators or inhibitors of personalized medicine innovation – will come under increasing scrutiny.

Persistent patent uncertainty continues to be a challenge for biotechnology companies and their investors. In large part for that reason, many are actively seeking out alternative pathways through the increasingly thorny gene patent thicket. Thus, don’t be surprised if 2011’s most noteworthy gene patent developments happen outside of the courtroom.

Legislation and Regulation. There was a lot of talk about regulating genetic testing in 2010, but the most significant regulatory action occurred late in the year with the EEOC’s publication of final regulations for Title II of the Genetic Information Nondiscrimination Act (GINA), which finally took effect this past week. With the increasing proliferation of genetic information, expect to see GINA – now in its third full year as law – in the headlines with more frequency in 2011.

As for genetic testing regulation, yes, 2011 could be the year that the FDA implements sweeping regulatory changes for laboratory developed tests (LDTs), including most genetic tests. But after announcing its intent to do just that back in June, the second half of 2010 came and went without significant follow-up activity from the FDA. After watching the FDA attempt to regulate a subset of LDTs (in vitro diagnostic multivariate index assays, or IVDMIAs) for four years before sending IVDMIA regulation to the regulatory trash heap for good late in 2010, there is good reason to be skeptical.

There’s a reasonable likelihood that the FDA will offer at least one concrete proposal for an LDT regulatory framework in 2011. But don’t expect that proposal – whatever its particulars – to be embraced by regulated entities, and we certainly wouldn’t bet on the FDA being able to finalize such an initiative and produce final guidance (or regulations, depending on which way it chooses, or is forced, to proceed) in the same year.

Other possibilities include two oft-discussed pieces of personalized medicine legislation, the Genomics and Personalized Medicine Act (GPMA) and the yet-to-be-introduced bill from Senator Hatch on advanced personalized diagnostics. But as we sit here today, the most likely scenario is that 2011 will bring no significant new final legislation or regulation affecting genomics and personalized medicine.

Such a rapidly-moving field poses substantial challenges for overburdened lawmakers and regulators even in the best of political environments and 2011, with its newly divided Congress and promise of contentious battles over healthcare reform and other key issues, hardly qualifies as an ideal political environment. Never say never, but those who would bring legislative and regulatory change to personal genomics are likely to spend 2011 primarily laying the groundwork for 2012 and beyond.

Access and Control. Our final question last year continues as perhaps the most important of 2011: who will control the data?

All of the issues above – from how much a genome will cost to who will be able to purchase one and whether a company can patent parts of it – reflect concern with access to and control of genomic data. Laws like GINA protect the use of genetic information in certain contexts, but at present there is no federal genetic privacy law and little consensus on whether an individual owns her own genetic material and data once it leaves her body.

As courts and legislatures continue to wrestle with these issues across an increasingly broad range of factual backgrounds – from state-mandated testing of newborns for genetic disease to the use of forensic DNA to monitor an increasingly broad subset of the country’s criminal (and frequently non-criminal) population – the pressure to clarify the rights individuals have in their genomes will intensify. Will we (along with courts and legislatures) conceptualize genomic data primarily as personal, with the individual the locus of control, or as medical, routing access and interpretation through the healthcare system?

Other challenges of no less importance will continue to demand attention in 2011 and beyond. We have already discussed, above, the issue of access to personal genomic data, and, indeed, no less an authority than NIH Director Francis Collins has written that “free and open access to genome data has had a profoundly positive effect on progress.”

But even as we strive to maintain broad and individualized access to genomic data, we will simultaneously need to ensure that those without the means (financial or otherwise) or desire to pursue their own genomic data are still able to benefit from personalized genomics. Among many, many challenges, this will require continuing the uphill battle to retrofit a healthcare system populated with institutions and individuals largely unprepared to handle the increasing size and complexity of incoming genomic data.

We Will Finish Where We Started. Again. These are big challenges, and they will not be met in full in 2011. We are confident that, when 2012 rolls around, most (and perhaps all) of the same issues will present themselves yet again to the field of personal genomics.

The $1,000 genome will continue to remain more hype than reality for most individuals. DTC personal genomics will continue to spark concern from legislators and regulators, tantalizing unscrupulous businesspeople even as it is embraced by an increasingly broad segment of the population. Gene patents will remain an unsettled area of law, even as public and private efforts to resolve the issue progress. The specter of FDA regulation will continue to loom large—and advance slowly. And, most importantly, while more people than ever before will have affordable and largely unfettered access to their genomic data, that access will be uneven, with many who could benefit most from personal genomics denied that opportunity.

Still, even as personal genomics’ challenges remain largely the same today as they were in 2010, and likely will be again in 2012, progress is apparent. After all that happened in 2010, perhaps all that really changed in the last year is that personal genomics is now a year older, a year wiser and continuing to advance. And perhaps that is enough. At least for 2011.

We also promised to take a closer look in today’s post at several substantive features of the EEOC’s new regulations.

Defining the Terms. The EEOC, the government agency generally responsible for enforcing federal employment nondiscrimination laws, was the logical choice to promulgate regulations under GINA’s Title II, which governs the use of genetic information by employers and similar entities. But not all of GINA’s statutory provisions were within the EEOC’s area of expertise.

For that reason, the EEOC solicited help from outside agencies, including the National Human Genome Research Institute (NHGRI), to aid in developing both the proposed and final regulations. Despite a few stumbles with the science (notably its description of the BRCA1 and BRCA2 genes), the EEOC’s final regulations—as well as its explanatory preamble—are laudably clear and informative. The preamble and the regulations themselves include numerous illustrative examples—something that was largely lacking in the draft regulations—and they should be particularly helpful to the predominantly non-scientific audience tasked with implementing GINA.

For example, public commenters requested additional clarification with respect to what does and does not constitute a “genetic test.” The EEOC responded in spades. According to the EEOC, genetic tests include (i) BRCA testing and other diagnostic cancer testing, as well as prognostic testing for Huntington’s Disease, (ii) carrier screenings of adults to determine the risk of conditions such as cystic fibrosis or sickle cell anemia, (iii) reproductive genetic testing and screening of all kinds, including amniocentesis, newborn screening and preimplantation genetic diagnosis, (iv) pharmacogenetics testing and (v) DNA testing for ancestry or familial/paternity relationships. In short, just about every technology on the personal genomics landscape appears to fall within the definition of genetic test.

Another important definition, clarified in the final regulations, is that of a “manifest” disease. The EEOC clarifies at several points in the preamble its position that genetic information alone is not equivalent to a disease or disorder: “other signs or symptoms must be present.” The EEOC uses the example of Huntington’s Disease which, despite its high degree of penetrance, is not considered to be a present disease even following a positive genetic test until actual symptoms arise.

This distinction is crucial because, under § 1635.12 of the final regulations, employers are not barred from using, acquiring or disclosing medical information about a “manifested disease, disorder, or pathological condition,” even when such disease or disorder has a genetic component. (However, employers may be barred from discriminating on the basis of such information by other federal law, including the ADA.)

The final regulations also provide greater clarity with respect to the definition of “family member,” which includes all dependents (including spouses, adopted children and other people who are not genetically related) and all other persons “related from the first to the fourth degree of an individual.” Other key terms, including “genetic information,” “genetic services,” and “family medical history” also receive helpful background discussion.

Deliberate vs. Inadvertent Acquisition. It is illegal under GINA for employers to “request, require, or purchase” genetic information. In considering what constitutes a “request” for purposes of GINA, the proposed rule was structured to prohibit the “deliberate acquisition” of genetic information. Some commenters, including the American Civil Liberties Union, criticized this proposed rule for suggesting that employers must have the “specific intent” to acquire genetic information to run afoul of the law. (Others suggested that requiring a “purposeful act” was, in fact, what Congress intended.)

In the final regulations, the EEOC sided with the ACLU in determining that “request” extends beyond a specific or deliberate intent to encompass a variety of actions that are “likely to result” in the acquisition of genetic information.

Despite this broad prohibition on the request of genetic information, GINA provides several exceptions, including with respect to “inadvertent requests” and “commercially and publicly available information.” The “inadvertent” request or disclosure scenario was originally inserted by Congress to address the so-called “water cooler problem,” in which employers inadvertently received genetic information, including family medical history, from employees in the course of routine conversations or interactions. Likewise, the “publicly available information” exception was intended to protect employers who acquired genetic information about their employees by, for instance, watching the evening news.

To aid in understanding the specific contours of these exceptions, the EEOC has provided significant clarifying guidance and examples. For instance, while an employer does not violate GINA by participating in “water cooler conversations”—whether those conversations happen around a conventional water cooler or in more modern settings, including on Facebook, LinkedIn or other social media platforms—that information is not an invitation to bypass GINA. The employer and its agents must “not then ask follow-up questions that are probing in nature.”

Similarly, the category of “commercially and publicly available materials” will generally not include materials made available to the public, or to some portion of the public, on a restricted basis (i.e., when more than simple registration is required for access). For example, research databases made available only to the scientific community or Facebook profile information shared only with “friends” (as opposed to information visible in a public database or on a public website) would not satisfy this exception.

Even genetic information that is available to the public on an unrestricted basis—as is true of genetic information provided by individuals, including one of us, who participate in public genomics projects—is not necessarily fair game for employers under GINA. If employers access such sources “with the intent of obtaining genetic information,” particularly if it comes from a source “that focuses on issues such as genetic testing of individuals” they will not be able to take advantage of GINA’s limited exception for publicly available materials.

As the EEOC explains, GINA’s limited exceptions are “intended to protect from liability a covered entity that inadvertently obtains genetic information and not a covered entity that is actively searching for genetic information.”

When it comes to applying GINA’s various exceptions, employers should remember that Title II of GINA serves three related but ultimately separate functions: (i) a general prohibition on the request for or acquisition of genetic information, (ii) an ever-more-complete prohibition on the discriminatory use of genetic information in employment-related decisions and (iii) strict confidentiality requirements pertaining to any sharing or disclosure of genetic information, however obtained, by employers. Thus, even genetic information that is requested or acquired lawfully under one of GINA’s exceptions is still subject to the remaining two prongs of GINA Title II, and it may not be used to discriminate in employment-related decisions or disclosed in violation of GINA’s confidentiality provisions.

No New Exemptions. In addition to clarifying the scope of existing exemptions, the EEOC specifically declined to introduce new exceptions under GINA relating to the use of genetic information in evaluating the ability of an employee (or prospective employee) to safely and effectively perform a particular job. Exemptions proposed by commenters would have permitted a covered entity to request genetic information (i) as part of “a medical examination conducted to assess an individual’s ability to perform a job” or (ii) “to determine whether an individual has a particular manifested disease, disorder, or pathological condition and where information about [that condition], as opposed to its signs and symptoms, is necessary to evaluate an individual’s ability to perform a particular job.”

The EEOC declined to create such an exemption in each case, citing both a lack of authority under GINA and its belief that “there does not appear to be a case in which the diagnosis, as opposed to the signs and symptoms, is necessary to evaluate an individual’s ability to perform a particular job.”

Shortly after the EEOC released its draft regulations we addressed this particular issue, among others, with a pair of GINA-related posts (see here and here). We considered whether there might be situations in which an employer could have a legitimate interest in testing an employee for a genetically-mediated condition, particularly where the employee’s activities might increase the risk or the severity of such condition becoming manifest during the course of employment.

The primary example we considered was that of professional basketball player Eddy Curry, who was traded by the Chicago Bulls after refusing to undergo a genetic test for Hypertrophic Cardiomyopathy (HCM).

As we wrote then:

Curry’s case is a very good example of a more general scenario that I suspect might pose a real problem once GINA takes effect. How will employers and employees handle situations in which an employer suspects that an employee is either suffering from, or at risk of, developing a medical condition with an identifiable genetic component? (In Curry’s case, it was the irregular heartbeat that created suspicion of HCM.) It would seem that, in most such cases, the employer will be forced to take action without a confirmatory genetic test.

The final regulations decline to create an exemption for this scenario and, indeed, it appears that if this case arose today, the Chicago Bulls might be prohibited from even requesting an HCM test. Although Curry did exhibit some physical symptoms, including an irregular heartbeat, the HCM test would arguably have been necessary to evaluate his ability to perform this particular job (that of a professional basketball player), particularly because the irregular heartbeat and other physical symptoms, on their own, may not have been enough for a conclusive diagnosis.

While the EEOC failed to find sufficient reason to create such an exemption, this situation is likely to appear in other contexts in coming years. While genetic information is primarily used to diagnose or guide treatment for manifest diseases or conditions, it is likely to play an increasing role in determining behavioral and lifestyle decisions—potentially including choice of employment—for conditions not yet manifest. Under GINA, however, except where an employer is required to do so by law, it may not “limit, segregate, or classify an individual…because of genetic information with respect to that individual.” There is no exception for imposing a limitation designed solely to protect the well-being of the employee.

As genetic information becomes more prevalent and more useful, we expect to see a growing tension between an employer’s legitimate interest in ensuring the welfare of its employees (for both economic reasons and out of a legitimate desire to protect its employees from harm) and GINA’s broad prohibition on requesting genetic information.

Employee Wellness Programs. One area where employers are already actively attempting to use genetic information—typically in the form of family medical history—to safeguard the health of their employees (and, in turn, decrease employers’ own healthcare costs) is employee wellness programs.

Increasing numbers of employers have implemented wellness programs, which frequently operate by assessing employees’ personal risk factors (including medical, environmental and behavioral) and encouraging the adoption of healthier lifestyles and practices. Many wellness programs include financial incentives (often in the form of premium discounts) for participation and/or completion.

Following GINA’s passage, and particularly the EEOC’s proposed regulations, many employers were concerned that such wellness programs might violate GINA. The proposed regulations permitted wellness programs only if they were offered on a “voluntary” basis (and if certain other conditions were met). Many commenters worried financial incentives or inducements would be deemed incompatible with the requirement of voluntariness.

In its final regulations, the EEOC has addressed this concern by clarifying the circumstances under which an employer may offer wellness programs that include a request for genetic information (including family history). In order for the wellness program to comply with GINA:

• the employee must provide a prior, knowing, voluntary and written authorization to participate in the program (electronic or online authorizations are allowed);
• individually identifiable genetic information may only be provided to the licensed health care professionals or board certified genetic counselors involved with the program;
• any genetic information received from the wellness provider must be in aggregate terms that do not disclose the identity of specific individuals; and
• employee incentives or benefits related to the program must not be conditioned upon the provision of genetic information.

Most notably, the EEOC determined that financial inducements for wellness programs are allowed, but only where the employer makes it crystal clear that neither participation in the wellness program nor the receipt of any benefit resulting from participation is conditioned upon the provision of genetic information.

What’s Next. Although GINA is now two and a half years old, like all new laws it remains subject to a considerable degree of uncertainty. Thus far, we are aware of only one publicly discussed EEOC claim filed under GINA (although EEOC’s legal counsel estimates “around 200 charges have been filed with EEOC under GINA so far“) and no court decisions interpreting the law. The EEOC’s final regulations are well-written and helpful but, ultimately, it will take years before we understand how GINA operates in practice.

On Monday, the twelve founders and co-collaborators at Genomes Unzipped (including me) published our genetic data for the world to see. We released both raw data and a custom genome browser. This morning we began the process of talking about the experience of joining the public genomics movement, something that has already affected each of us in different ways. My first post discusses why my decision to join Genomes Unzipped was not a purely personal decision.

On Tuesday, the Personal Genome Project unveiled its latest phase, announcing the enrollment of its next 1,000 participants (the “PGP-1K”), integration with Google Health for phenotype collection and sharing, the upcoming release of a number of new, public whole-genome sequences and several other exciting developments.

It has been a big week for personal genomics, and I am gratified to be involved in both of these projects. Onward and upward or, as Jason Bobe might say, “to the moon!”

The software-based test can be downloaded from the website of the University of Maryland’s Center for Bioinformatics & Computational Biology, where Salzberg is the director and Pertea is on the faculty. The test purports to test genomic sequence data against a set of known mutations in the BRCA genes. In addition to representing a conceptual alternative for those seeking to evaluate their risk of hereditary breast cancer, the so-called “Salzberg Screen” is also a direct challenge to Myriad Genetics, the FDA and the existing legal, regulatory and policy regimes that continue to struggle to keep pace with the science and technology of genomics and personalized medicine.

Below, we examine how the Salzberg Screen fits—or does not—within the current legal and regulatory landscape, as well as what it signals for the future of do-it-yourself genomics, whole-genome sequencing and the law.

BRCA Background. First, a quick primer on the clinical and legal significance of the Salzberg Screen’s target: the BRCA genes. BRCA-1 and BRCA-2 are perhaps the two most well-known human genes. This stems in part from the role which mutations in those genes play in dramatically increasing the risk of breast and/or ovarian cancer for certain individuals.

The notoriety of the BRCA genes has also been significantly enhanced in the past year thanks to high-profile litigation in both the United States and Australia challenging the validity of the BRCA gene patents held by Myriad Genetics. Myriad’s patents covering the isolated BRCA-1 and BRCA-2 genes, as well as certain methods of diagnosing breast cancer susceptibility, were ruled invalid by Judge Robert Sweet of the Southern District of New York earlier this year. Judge Sweet’s opinion is currently being appealed to the Court of Appeals for the Federal Circuit, where hearings are expected to get underway later this fall. Despite the litigation, Myriad’s BRCA patent portfolio has enabled it to serve as the sole (lawful) provider of BRCA screening in the United States and numerous other countries worldwide.

The Salzberg Screen. Myriad’s role as exclusive provider of BRCA screening is a fact that has clearly irked both Salzberg and Pertea:

We believe that any individual should be allowed to interrogate his or her genome for all mutations of interest, regardless of whether a private company claims to ‘own’ the rights to particular gene mutations. To challenge the restrictive gene patenting system, we have developed a computational assay that, as a proof-of-concept, tests for 68 known variants of the BRCA1 and BRCA2 genes. In other words, we empower any individual using our software (whether this is a private individual, a clinician or a clinical or basic researcher) to test for these mutations and circumvent the gene patents.

The Salzberg Screen compares whole-genome sequence data (or, presumably, data from targeted sequencing of the BRCA genes) against a list of “68 known mutations in the [BRCA] genes” drawn from the Online Mendelian Inheritance in Man (OMIM) database. Salzberg and Pertea readily admit that their DIY screening tool is far from perfect, noting that “…the 68 mutations used in this proof-of-concept assay do not represent a comprehensive list of BRCA mutations,” but pointing out that “additional mutations could easily be added to our test…”

In addition to only testing for a fraction of the publicly identified BRCA mutations, a number that does not include additional proprietary information about BRCA mutations possessed by Myriad Genetics, the Salzberg Screen also possesses another significant current limitation: cost. Myriad’s BRACAnalysis test costs several thousand dollars, but it includes targeted sequencing of the individual’s BRCA genes. While the Salzberg Screen is free to use, it requires the user to come up with her own whole-genome sequence data.

At the moment, whole-genome sequencing is still more expensive than Myriad’s BRACAnalysis, a test which is covered by many insurers where clinically indicated. The price of a whole-genome sequence is a moving target and depends upon the quality of the sequence (including accuracy and depth of coverage), whether it is generated in a clinical (i.e., CLIA-certified) or research facility, the level of associate interpretation or analysis that is provided and a host of other factors. Current best estimates put the cost at anywhere from $1,000 to $10,000 per genome, although Salzberg and Pertea, like so many others, note that we are “rapidly approaching the day when it will be cheaper to fully sequence a genome before testing the sequence for all known genetic mutations associated with a given disease than to conduct multiple separate tests for each disease.”

While that day is not quite at hand, Salzberg and Pertea’s goal is not to create a computational screen that is a replacement, right now, for Myriad’s test. Instead, they have developed a “…template that can easily be modified to test for almost any known genetic mutation,” and thereby one day circumvent not only Myriad’s testing monopoly, but also all human gene patents.

What This Means, Part I: Myriad and its Patents. More than a year ago we wrote about the impending collision between single gene sequencing, such as that provided by Myriad, and inexpensive whole-genome sequencing (see: Whole-Genome Sequencing and Gene Patents Coexist (For Now)). As the cost of gene sequencing continues to fall, we expect that more and more software-only tools like the Salzberg Screen will spring up. But can such tools be used, as Salzberg and Pertea hope, to “empower any individual…to test for [BRCA] mutations and circumvent the gene patents”? More pointedly, can such tools circumvent gene patents legally?

Infringement, Direct and Indirect. A patent can be infringed in two ways: directly or indirectly (see Section 271 of the Patent Act). Direct infringement consists of someone making, using, offering to sell, or selling the patented product or process. Usually, the infringer must be duplicating the patented invention exactly as described in one of the patent claims; in patent jargon, the infringed patent claim must “read on” the infringer’s activity, element-by-element. Indirect infringement comes in two forms: inducement and contributory infringement. Inducement, sketchily codified in Section 271(b), requires knowledge of the patent and an affirmative act to cause or direct a third party to carry out an act of infringement. In other words, you can’t escape liability by contracting with someone else to make a patented product or carry out a patented process. Contributory infringement, codified in considerable detail in Section 271(c), usually consists of selling a component of a patented invention, knowing that the component has no use except in that invention. The theory here is to prevent a conspiracy of infringers from escaping liability by individually selling pieces of the protected invention. Significantly, you can’t be guilty of indirect infringement unless someone is engaging in direct infringement.

So the first and most important question here is whether use of the Salzberg Screen would result in someone infringing one or more of Myriad’s patents. That is, would either the individual or someone else (for example, a clinician or genetic counselor helping the individual use or understand the Salzberg Screen or a similar service) be making, using, or selling a product or process covered by a Myriad patent? (This whole analysis assumes, of course, that the relevant Myriad patents are not ultimately found invalid at the conclusion of the ongoing Myriad litigation.)

It’s worth remembering that Myriad’s patents include both product and process claims. On the product side are claims like Claim 1 of U.S. Patent 5,747,282 (pdf):

An isolated DNA coding for a BRCA1 polypeptide, said polypeptide having [a listed] amino acid sequence.

Would anyone in the chain of use of the Salzberg Screen be making or using this gene in isolation? That is a factual, scientific question that turns on whether the particular sequencing technique involves using “the gene.” Our science sources tell us that the answer depends on the sequencing method, but, at least for whole-genome sequencing, it is probably “no.” (Sequencing just the BRCA genes, as opposed to whole-genome sequencing, would likely be a different story.)

There are also claims like Claim 5 of the same patent: “An isolated DNA having at least 15 nucleotides of the DNA of claim 1”—i.e., any 15-mer oligonucleotide that can be found in the patented gene. While almost no one expects a claim like this to survive in the Federal Circuit, if it did, then almost any sequencing process might infringe solely as a matter of statistical probability (pdf).

A Method of Inducement? On the process side, Claim 1 of U.S. Patent 5,709,999 (pdf) is one of the broadest. Here is how the claim reads:

A method for detecting a germline alteration in a BRCA1 gene, said alteration selected from the group consisting of the alterations set forth in Tables 12A, 14, 18 or 19 in a human which comprises analyzing a sequence of a BRCA1 gene or BRCA1 RNA from a human sample or analyzing a sequence of BRCA1 cDNA made from mRNA from said human sample with the proviso that said germline alteration is not a deletion of 4 nucleotides corresponding to base numbers 4184-4187 of SEQ ID NO:1

And here is how Judge Sweet, in his Myriad opinion (pdf), translated that claim, shortly before finding it to be invalid:

Claim 1 of the ‘999 patent is directed to the process of ‘analyzing’ a BRCA1 sequence and noting whether or not the specified naturally-occurring mutations exist. The claimed process is not limited to any particular method of analysis and does not specify any further action beyond the act of ‘analyzing.’”

Under that reading, would Claim 1 of the ‘999 patent cover the activities of an individual who downloaded and ran the Salzberg Screen in order to “analyze” their BRCA-1 sequence? Would it cover the activities of a clinician or genetic counselor assisting a user in interpreting the Salzberg Screen’s results? That would be a matter for a court to decide, although it is certainly possible that, depending on the specific court and specific set of facts, the answer could be “yes.” If so, there would be an act of direct infringement.

If a court were to find an act of direct infringement, then Salzberg and Pertea could well be liable for indirect infringement, most likely in the form of inducement of infringement.

A Calculated Gamble? Salzberg and Pertea are clearly aware of the Myriad patents (a requirement of inducement) and explicitly invite individuals to “test for [BRCA] mutations and circumvent the gene patents.” They also readily acknowledge that they are asking Salzberg Screen users to commit patent infringement.

In creating this software, we are not violating the BRCA patents directly but any user would be, because even a noncommercial use (such as examining one’s own genome) is considered to be patent infringement.

The fact that Salzberg and Pertea claim not to be violating the BRCA patents “directly” suggests that they are aware of the risk of indirect infringement. They do not, however, appear to be overly concerned that Myriad will pursue such a claim.

For Myriad to make out a claim of indirect infringement against Salzberg and Pertea, it would likely first have to show that individual users are directly infringing Myriad’s patents. Suing a direct infringer could involve challenging in court the activities of an individual using a freely available software program to examine her own genes from the privacy of her own home.

But Myriad wouldn’t have to actually sue the direct infringer—it could decide to sue only Salzberg and Pertea for indirect infringement. In fact, the whole premise of indirect infringement is that it provides a patent holder an avenue of redress when it isn’t feasible to pursue the direct infringer. Still, given the substantial negative publicity that continues to swirl around Myriad’s BRCA patents, and the fact that suing for infringement would also mean subjecting its patents to a new set of invalidity challenges (a near-certain argument in defense from any alleged infringer), Salzberg and Pertea may be taking a calculated gamble that Myriad simply does not have the stomach to initiate any BRCA patent infringement litigation, whether direct or indirect.

Myriad’s Next Move. Myriad derives 90% of its revenues from its BRACAnalysis product, so neither the company nor its investors are likely to take any challenge to its BRCA business lightly. At present, however, the Salzberg Screen does not pose a credible commercial threat to Myriad. It does not test for the full range of deleterious mutations covered by Myriad’s BRACAnalysis, and it also requires something few people have: access to a high-quality copy of their genome. For those reasons, and in light of the negative publicity that would flock to any attempt Myriad might make to quash the Salzberg Screen, the strong likelihood is that Myriad will simply ignore this development, at least for the moment. What’s more, as Myriad is no doubt aware, pending the appeal of Judge Sweet’s decision invalidating certain of Myriad’s patents, an alleged infringer could use that decision to defend itself under an arcane legal doctrine called “issue preclusion.”

Conceptually, however, whole-genome sequencing has always been a threat for single-gene diagnostic companies such as Myriad. The Salzberg Screen brings that tension into particularly sharp relief. Once individuals routinely have access to high-quality whole-genome sequences, they are likely to ask why they need to pay the Myriads of the world several thousand dollars to analyze a handful of genes when they could pay far less—or perhaps nothing at all—to have the same analysis automatically performed by a software program.

As the technical limitations fade in the face of ubiquitous whole-genome sequencing, the Salzberg Screen, or perhaps one of its descendants (Salzberg and Pertea have created a fully open source piece of software), will come to present a viable alternative to Myriad’s test, at least in certain circumstances (e.g., for second opinion or confirmatory testing). How quickly this will occur remains unknown, but there is a strong likelihood that it will be before 2015, which is when the first group of Myriad’s BRCA patents are set to expire.

In many ways, the Salzberg Screen is every bit the frontal attack on Myriad’s patents that the ACLU-initiated litigation represents.  Like the ACLU litigation, it publicly, deliberately and unapologetically challenges Myriad’s right to control access to BRCA information. Allowed to evolve unchecked, it could one day threaten Myriad’s core business. So even if Myriad takes no action right away, you can safely bet that the company will be watching the development of the Salzberg Screen with considerable interest.

What This Means, Part II: Regulatory Acronym Soup or: WGS means more LDTs go DTC and DIY, creating a problem for FDA. While Salzberg and Pertea focus a majority of their attention on circumventing Myriad’s gene patents, their conclusion recognizes at least one other potential obstacle to widespread adoption of their BRCA screening test:

Finally, we recognize that there may be some controversy about giving ordinary individuals the ability to test their own DNA, without also providing expert genetic counseling.

The “controversy” is a nod to the FDA’s recent and widely discussed proposal to more aggressively regulate not only direct-to-consumer (DTC) and do-it-yourself (DIY) genetic tests, but all laboratory developed tests (LDTs). As we wrote earlier this fall, “recent developments suggest that innovation in personal genomics is an increasingly difficult undertaking.” From Pathway Genomics’ short-lived attempt to offer its product on Walgreens’ shelves, to U.C. Berkeley’s unsuccessful attempt to innovate genomics education by offering non-clinical genetic testing to its incoming freshmen, the recent regulatory climate has been none-too-kind to those intent on thinking outside the box in the personal genomics space.

Salzberg and Pertea are aware, no doubt, of these recent events, but remain resolute in their desire to liberate individuals from the strictures—patent, regulatory or otherwise—that would inhibit personal genomic access:

Nonetheless, the door to this new technology is already open and it cannot be closed. Rather than trying to keep patients in the dark, we need to embrace the technology and work harder to educate both physicians and patients about the power and the limitations of genetic tests.

With the FDA in the middle of developing a formal proposal to regulate all LDTs, including those offered DTC, there’s simply no knowing whether or how the FDA will respond to this development. While we think any immediate and public FDA reaction unlikely, the Salzberg Screen should be setting off alarm bells at the agency.

Regulating Tomorrow’s LDTs Today. At the recent public meeting convened by the FDA to solicit feedback on the agency’s plan to regulate all LDTs, there were two areas of discussion in particular that were defined less by disagreement over how or whether to implement FDA regulatory oversight and more by the creeping suspicion that neither the FDA nor any other regulatory agency is  currently prepared to address the issue: (1) testing based on multiplex or whole-genome sequencing data and (2) software-only bioinformatics or genetic testing services.

After Day 1 of the FDA’s public meeting, we wrote:

What about tomorrow? Another area of considerable confusion, if not necessarily disagreement, was what to do with the coming wave of multiplex diagnostic tests including, ultimately, a proliferation of whole-genome sequence data and corresponding interpretive tools. This was not an issue that the FDA tackled directly, but it was clear in the afternoon question and answer session that many of the panelists, at least, were unsure how the next generation of diagnostic tests would fit into the current (or contemplated) regulatory model. The challenges posed by the next generation of sequencing and bioinformatics tools are hardly new, but designing a regulatory framework equipped to survive the next decade will be one of the FDA’s greatest challenges.

While there is no greater clarity today than there was back in July, the unveiling of the Salzberg Screen crystallizes the importance of addressing these issues today, before the coming proliferation of whole-genome sequence data and associated bioinformatics tools.

The arrival of inexpensive and widespread genomic data will be followed, nearly simultaneously, with an explosion of new genomic-based tools and services prepared to analyze that data. These will not be LDTs in the traditional sense, and many will be unlikely to have any need for a laboratory at any stage. Targeting individuals with data in hand, they may well look like more sophisticated versions of the Salzberg Screen, bringing together data and returning personalized genomic analyses.

The Salzberg Screen is not the first computational test that relies on the individual to supply raw data. A familiar example is the Reynolds Risk Score, which takes as inputs user-supplied risk factors such as blood pressure, cholesterol and family history and then “predict[s] your risk of having a heart attack, stroke, or other major heart disease in the next 10 years.”

The Salzberg Screen adopts a similar DIY model for genomic data. In addition to a number of similar open-source and/or academic tools and projects already in progress (the Personal Genome Project, Genomes Unzipped and DIYgenomics all offer good examples), commercial variants of this model are also in the works. A new California-based start-up, Existence Genetics, recently described its plans to leverage the coming decline in whole-genome sequence data. According to CEO Brandon Colby, although the company today supplies both genetic tests and analysis to patients, “eventually … we see ourselves disengaging from utilizing gene chips completely, disengaging from all lab work, and instead solely being an analysis company.”

Colby, to his credit, recognizes that such a model will undoubtedly attract the attention of the FDA:

Colby said that he expects the agency to provide clear guidelines and regulations for LDTs soon, and when they do, ‘we really do look forward to working with them. The big question is how they’re going to regulate and what the timeline is … but once both of those are worked out by the FDA, we’re going to be front and center and willing to work with them and make sure we comply.’

With the FDA still “trying to decide what [its] options are,” Colby may be more optimistic than most in viewing  “clear guidelines and regulations for LDTs” as likely to arrive “soon.” Regardless of when those LDT guidelines actually do arrive, the more important question remains whether they will provide a meaningful degree of insight into the agency’s plans for reviewing multiplex and whole-genome sequencing products and the software-only bioinformatics services that will be developed to leverage low-cost whole-genome sequencing.

Drawing the Right Lines. The examples presented by the Reynolds Risk Score calculator, Salzberg Screen and Existence Genetics products, among others, challenge us, and particularly the FDA, to carefully establish what constitutes an appropriate regulatory target. As genomic tests and services move out of the laboratory and into the genomics data cloud, where and how will the FDA direct its regulatory energies?

If the FDA focuses on the risk level of the condition analyzed, how will it respond to multiplex or whole-genome interpretations that analyze both high- and low-risk conditions simultaneously? If the FDA seeks to install clinician gatekeepers between data and interpretations, even when those interpretations are not coupled with a laboratory test or other traditional medical device, will the agency also attempt to forbid individuals from accessing or attempting to analyze their medical records or raw genomic data on their own?

Drawing the right lines will be exceptionally difficult, and will require considerable foresight if the regulatory framework now being developed is to be sufficiently flexible to accommodate what are likely to be substantial changes in the way health information is collected, interpreted and delivered. The recently disbanded Secretary’s Advisory Committee on Genetics, Health, & Society (SACGHS), which had been slated to take up the implications of whole-genome sequencing, might well have helped the FDA in this process. Instead, the onus now falls more heavily on the FDA, as well as other public and private regulatory and advisory bodies, to think prospectively and creatively about these issues before the Salzberg Screen and its kin become the norm in personal genomics.

A Final Thought: Keeping Up With the Salzbergs. Even more fundamentally than its challenge to Myriad’s gene patents or to the FDA’s preparedness for a future in which whole-genome sequencing exists alongside do-it-yourself personalized medicine, the Salzberg Screen is a reminder of the Herculean task lawmakers, policymakers and regulators face in attempting to keep up with the pace of scientific and technological innovation in the fields of genomics and personalized medicine.

Whatever we think of Salzberg’s Screen and his aggressive challenge to the status quo of gene patents and federally regulated access to genetic testing, we must applaud the work that Salzberg and others do to continually push forward both the science and the application of genomics and personalized medicine. It’s doubtful that the Salzberg Screen will effectively undermine Myriad’s patents or cause the FDA to wholeheartedly embrace DIY genomics, at least in the short term. But by forcing all of us to think more concretely about such possibilities, Salzberg is spurring valuable discourse and forcing lawmakers, policymakers, regulators and businessmen to respond. We hope that the response, when it comes, will include a recognition that even if we cannot keep up with the Salzbergs—those bent on innovation, no matter how much it strains our current structures—we can do much more, now, to anticipate where they are leading us.

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Note: The image that appears is used and modified with the permission of DIYgenomics.

As part of its program, Berkeley offered students the option to participate in genetic testing for three common genetic variants relevant to the body’s ability to metabolize milk products, alcohol and folic acid. The University’s original plan was to allow students to elect to receive the results of their tests as part of the program. Two weeks ago, however, the California Department of Public Health (CDPH) ruled that if Berkeley wanted to return personalized genetic data to some of its freshmen, the testing must be conducted at the direction of a physician and performed by a licensed clinical laboratory. The significant logistical burden and cost of complying with the CDPH’s ruling forced Berkeley to modify its program. While some aspects of the program will go forward, no student will be able to access any personalized genetic information.

(CDPH’s ruling was unexpected. Berkeley’s Dean of Biological Sciences, Mark Schlissel, noted that the department’s ruling “relies on an interpretation of legal statutes that is entirely different from the interpretation of the same statutes by UC’s top lawyers.” The ruling itself has potentially significant implications for genetic research across the country, although that topic is the subject for a future post.)

The focus of this post is the rapid mobilization of critics of the Berkeley program and the power of public controversy to spur regulatory action and, ultimately, to force the University to adopt a fundamentally different approach to personal genomics education than originally intended. This in spite of a detailed internal review process that consumed substantial resources and required Berkeley’s Institutional Review Board (IRB) to approve the project. Examining how and why this happened is instructive for evaluating the future prospects of personal genomics research and innovation.

A Controversy Emerges. From the outset, a handful of bioethicists and public interest groups voiced hypothetical concerns about the risks of offering genetic testing to Berkeley’s freshmen. The Council for Responsible Genetics greeted the program’s launch with a letter to the University (pdf) that warned that genetic information “has the risk of being used out of context in ways that are contrary to the interests of the individual, perhaps even discriminatory and certainly privacy invasive.” Similarly, an article in The New York Times featured Boston University bioethicist George Annas, who posed the following hypothetical:

What if someone tests negative [for alcohol metabolization], and they don’t have the marker, so they think that means they can drink more? Like all genetic information, it’s potentially harmful.

Finally, the Center for Genetics and Society linked the Berkeley program to contemporaneous developments in direct-to-consumer (DTC) genetic testing, and warned that “students might think, ‘Berkeley gave it to us. It must be good. UC Berkeley would never be giving its incoming students anything bad or controversial.’”

In short order, what began as an innovative approach to introduce incoming students to genetics and personalized medicine by offering those students the opportunity to personalize their experience quickly became a controversy.

From Controversy to Regulation. Controversial educational initiatives are hardly new. Indeed, they are part of the mission of many institutions of higher education, including Berkeley. In responding to initial criticisms of the program (pdf), the University emphasized that “provoking a free and open discussion about issues surrounding genetic testing is an important aspect of educating our students to be informed citizens.”

Unquestionably, there is considerable value in subjecting all forms of innovation to close scrutiny. In fact, in any Common Rule-governed human subjects research, this is a requirement. Among the many criteria for IRB approval of a human subjects research project is the requirement that “risks to subjects are reasonable in relation to anticipated benefits.” The provision of informed consent is a separate, and similarly important, prerequisite to approval. Berkeley’s own IRB reviewed the University’s project, applied these and other statutory criteria, and ultimately approved the project.

Despite not being legally required to do so, Berkeley actively engaged with the program’s critics from the outset. A program that was vetted internally was now being vetted by the public, with the University’s active participation. In response to public feedback the University modified the project to clarify the project’s voluntary nature, the informed consent process and its separation from actual or perceived industry conflicts of interest.

Critics of the Berkeley program, however, were not satisfied. They continued to urge first the University and then California legislators to much more dramatically alter the program, or even to discontinue it entirely. The constant stream of criticism had an impact. Over the course of the summer, legislation was introduced that would have halted the program. That was followed by legislative hearings to debate the program’s merits and, ultimately, by the CDPH ruling that effectively ended the program in its originally-proposed form.

The rapid reaction of regulators to a debate that was largely driven, especially initially, by media reports, “expert” commentary and social media discourse was strikingly reminiscent of another mid-May personal genomics development.

The week before Berkeley’s program was announced, DTC genetic testing company Pathway Genomics and drugstore giant Walgreens announced a partnership that would have made Pathway’s consumer genetic test available through Walgreens’ stores. In Pathway’s case, the leap to controversy was even swifter: the initial story in The Washington Post describing the agreement warned of a “Pandora’s box of confusion, privacy violations, genetic discrimination and other issues.” Nonetheless, the end result was the same as regulators quickly stepped in and demanded changes. Rather than the CPDH demanding physician intervention and a clinical lab, in Pathway’s case it was the FDA declaring the product in question a medical device in need of a time-consuming and expensive medical device clearance or approval. In both cases, swift regulatory action effectively quashed the proposed activity.

Why Debating Personal Genomics is Difficult. Recent developments suggest that innovation in personal genomics is an increasingly difficult undertaking. In addition to the Berkeley and Pathway cases, examples include the FDA’s increased oversight of DTC genetic testing companies (in addition to Pathway), the GAO’s report on the perils of DTC genetic testing and, most recently, criticism of the University of Minnesota’s attempt to bring genetic research to the State Fair. Collectively, this suggests the emergence of a disturbing trend: developments in the area of personal genomics that deserve serious public debate are shaped from the outset by commentators, policymakers and lawmakers more concerned with making a point than with advancing the conversation.

Of course, it is hardly news that emerging areas of science and controversy generate controversy. In recent weeks, the safety and desirability of human embryonic stem cell research has sparked a heated public debate, just as it has at regular intervals for the past decade. The new dynamic facing personal genomics is the rapidity and ease with which any initiative may be branded as “controversial,” combined with the willingness of lawmakers and regulators to intervene directly and rapidly in such “controversial” activities. This may be as much a function of new paradigms in media, politics and public discourse as it is a function of personal genomics itself, but whatever the reason the concern is that it is having a chilling effect on innovation throughout the field.

On the commercial side, the effects of increasing regulatory uncertainty are evident, as businesses and investors are considering abandoning personal genomics or moving their operations – and attendant jobs and capital – overseas. On the research side, similar confusion – particularly in light of the Berkeley program’s fate – continues to discourage researchers from exploring innovative approaches that might help to accelerate our attempts to decipher genetic complexity and, ultimately, provide us all with more effective, less expensive health care.

Whatever the context, there can be no substitute for careful, public and reasoned debate when it comes to evaluating the appropriateness of a new personal genomics proposal. Similarly, there is no substitute for fully informed consent; for ensuring that all individuals – whether they are students, patients or consumers – understand the full extent of the risks attached to a decision to participate in a personal genomics activity. Both are critical in assuring that personal genomics is conducted in a responsible fashion.

But public debate and informed consent require more than an ability to enumerate hypothetical risks. When it comes to evaluating innovative personal genomics proposals, all of us – participants, funders (including taxpayers), media and commentators and, especially, policymakers and regulators – owe a duty to be thoughtful and balanced in assessing their merits. To be blunt, it requires all of us to do more than throw darts at the easiest targets.

This means understanding that it is not enough to simply enable public debate between those with opposing views on the merits of a particular project. It means recognizing that all innovation – scientific, technological, commercial, research, educational, etc. – carries with it a measure of uncertainty, but that uncertainty alone is an insufficient reason to slam on the brakes. It means acknowledging the difference between hypothetical or low-probability risks and actual, documented harms, and recognizing that the first step should be determining which is which. And most importantly of all, it means considering the benefits of innovation in personal genomics that accrue in addition to – and often because of – its risks.

This is not an easy task. Particularly in a field such as personal genomics, which is driven by new and often untested scientific knowledge and technology, it is trivial to examine a new idea and find something that could conceivably go wrong. Is it possible that a freshman tested for a genetic variant associated with alcohol flush reaction could interpret a negative result as a license to consume alcohol in excess? Of course it is possible, for the bar of “possibility” is exceptionally low. It is much more difficult to convert hypothetical risks into actual data on behavior (i.e., do individuals act to their detriment as a result of non-clinical genetic testing in general, and specifically in the case of the alcohol flush variant?), and more difficult still to balance such risks against the benefits of the same activity.

Keeping Our Heads. Realizing the promise of personal genomics will be impossible unless our society is willing to accept some measure of uncertainty and, yes, risk-taking. Our challenge is to figure out not only when the benefits of personal genomics outweigh its risks, but also who should be permitted to make that frequently difficult and personal risk-benefit decision, and in what contexts.

For those who would place that decision in the hands of individuals, there can be no question that we must first provide those individuals with the necessary information and perspective to make an informed decision. But the process of informing personal genomics participants – of informed consent – no matter how thoughtful and comprehensive, can only take us so far. The information will never be complete, the perspective will never be perfect, and the decision will never be without risk.

It is true, too, that there are many situations where society examines the risks associated with a particular activity and decides that they are simply too high – whether to the individual or to society as a whole – to be assumed, even knowingly and voluntarily, by the individual. We do not, for instance, let teenagers consume alcohol. We place restrictions on the acquisition or use of all manner of technologies, from automobiles to firearms. We require regulatory approval and a doctor’s prescription for most pharmaceuticals.

But as a society we also evince a deep respect for autonomy, leaving many risky decisions in the hands of individuals. The decision to drink alcohol or drive a car in the first place (assuming one is of legal age), to become pregnant (and even to terminate a pregnancy) and to provide informed consent to participate in scientific research: all of these decisions we leave in the hands of individuals.

We have not yet determined whether personal genomics is more like the decision to conceive a child– a personal decision free from state intrusion – or the decision to undergo chemotherapy – a personal decision highly regulated by the state. In a field with a landscape as diverse and rapidly-changing as personal genomics, the answer will frequently depend on context. Some aspects of personal genomics (e.g., genetic testing to determine a proper therapeutic treatment) warrant a greater degree of societal intervention than others (e.g., genetic testing to determine geographic ancestry).

The challenge is knowing where to draw that line. The risks posed by automobiles, firearms and pharmaceuticals are well-documented whereas, at least for the moment, the risks of personal genomics remain largely hypothetical. In the absence of clear data, the recent trend to deemphasize the benefits of personal genomics while focusing on its risks, and to use those risks as  justifications to shift control away from the individual, should cause us all to question whether we are drawing that line in the proper place.

If personal genomics is ever to live up to its name, at some point we must allow individuals – including the future leaders of our society, as embodied by Berkeley’s incoming freshmen – to decide for themselves whether and how to participate. To do otherwise, and to continue to aggressively criticize and thereby discourage personal genomics innovation in our zeal to render it a riskless enterprise, would be a mistake.

I’m pleased to announce the beta launch of a new community resource for personal genomics, Genomes Unzipped.

I’ve been working with a group of colleagues on this project for quite a while now. Some of the group members will be familiar to regular readers of the Genomics Law Report, including Daniel MacArthur from Genetic Future, Luke Jostins from Genetic Inference and Caroline Wright from the PHG Foundation. Others are new to the online personal genomics community, but have scientific training in genomic analysis, statistical genetics and other fields that allow them to offer valuable insight into personal genomics issues. We’ll be adding more names to that list over the next few weeks.

So what can you expect from Genomes Unzipped (or GNZ, as we’ve taken to calling it)? The goal of GNZ is to provide the basic knowledge and tools that individuals interested in personal genomics need to explore their own genetic information in a responsible, informed manner. To start, GNZ will feature technical analyses of personal genomics developments and services from a diverse range of viewpoints and backgrounds. Examples will include detailed analysis of the scientific basis of tests offered by personal genomics companies, dissections of important new papers in the field and discussion of the ethical, legal and social issues presented by new developments in this rapidly evolving field.

GNZ is also planning bigger things for the site over the next few months. You can track these developments via RSS or Twitter.

The research began two decades ago, ostensibly to search for a genetic variant that might be contributing to the increasing rate of diabetes in the tribe. The diabetes research proved unfruitful, but the blood donated by the Havasupai tribe members, and the DNA extracted from it, led to a number of follow-on research projects, grants and publications. It was that research – including searching tribe members’ DNA for variants linked to schizophrenia, and inferring the likely ancestral origins of the tribe’s founders – that led to lawsuits, millions in legal fees and, ultimately, the settlement.

Implications of the Havasupai Settlement. Harmon’s article provides a concise background to the dispute, and briefly describes the $700,000 settlement between ASU and the tribe to “remedy the wrong that was done.” Harmon and unnamed “legal experts” suggest that the settlement is significant because “it implied that the rights of research subjects can be violated when they are not fully informed about how their DNA might be used.”

In some respects, this is a trivial conclusion. One of the most important and well-known elements of the Common Rule – the regulatory regime that governs federally-funded human subjects research – is that researchers must seek, and participants provide, informed consent. Participants that are uninformed cannot provide valid consent and, thus, their rights as subjects are violated. In that respect, at least, the Havasupai case tells us nothing new. (I have not seen the settlement, but I doubt that it will (a) be made public or (b) contain an express admission of guilt from ASU, both factors that will limit its relevance to future similar scenarios.)

But the Havasupai case and Harmon’s article shine light on an important, and difficult, problem that continues to face scientific researchers, particularly those exploring human genetic variation: what does it really mean to provide “fully informed” consent for genomic research?

Fully Informed Consent? Looking at the text of the Common Rule, there are requirements that the researchers describe the nature and purposes of the research (§ 46.116(a)(1)), as well as both reasonably foreseeable (§ 46.116(a)(2)) and unforeseeable (§ 46.116(b)(1)) risks of participation. But the standard of informed consent that must be achieved is not explicitly spelled out. Is it “reasonably informed,” “substantially informed,” “fully informed” or something else altogether? (Interestingly enough, the language that Harmon uses – “fully informed” – does appear, but only in sections regarding research on pregnant women and fetuses, which is not applicable in this case.) Even if a clearer standard were articulated, how would researchers demonstrate that it had been satisfied?

The requirement of informed consent is part of the bedrock of modern human subjects research in the United States, and it is not going anywhere. In fact, the story of the Havasupai, as well as the tale of Henrietta Lacks (told so remarkably well in Rebecca Skloot’s new book) and other past failures of informed consent, suggest the informed consent requirement is here to stay, as well it should be.

A Difficult Balance. Yet, as we push forward into an era of large-scale, personalized genomic research, it is impossible to ignore the difficulties – legal, ethical and practical – that informed consent requirements impose. For example, truly informed consent for genomic research might require participants to possess a deep – or at least working – understanding of the underlying science. That sets a very high bar, and finding sufficient numbers of participants capable of providing such consent could restrict important research.

Even more daunting, however, is the difficulty of fully informing participants of the benefits and risks of participation in genomic research – particularly where the resultant findings could conceivably be linked back to the individual or, as in the case of the Havasupai, the individual’s community – when the researchers themselves lack this understanding. What genetic information can tell us about disease and other traits, and how this information can be used or misused in the case of individuals, is an area of continuing uncertainty. With the publication of the draft human genome sequence a decade in the rearview mirror, we know more than ever before. But there is still much that we don’t know.

Thankfully, new research models and strategies for seeking informed consent are being developed and tested. For instance, the Personal Genome Project (PGP) – for which I am an advisor, including with respect to the informed consent protocol – employs a model of “open consent.” The PGP focuses on preemptive and extensive risk disclosure, along with rigorous participant pre-screening to ensure that the risks of participation are understood. More broadly, the difficulties of informed consent and genomic research is an issue that the NIH is studying on an ongoing basis, with multiple internal working groups looking at different dimensions of the problem. Nevertheless, informed consent for genomic research poses a considerable challenge for policymakers, funding bodies, researchers and participants, and it is unlikely that any of the existing models represent a perfect approach.

None of this should be taken to mean that informed consent for genomic research is impossible. To admit that would leave us with the unenviable choice of sacrificing either the informed consent of participants or the valuable scientific research they enable. What the case of the Havasupai tribe does underscore, however, is just how difficult a task this is. It is clear that the next generation of personal genomics research will require more than purely scientific breakthroughs. We also need to think creatively about the ethical and legal framework in which such research is conducted, to make sure that it continues to promote scientific progress while protecting the participants – no matter what their background – that make such research possible.

For most of the broadband plan’s 376 pages (pdf) the answer is “nothing at all.” However, Chapter 10 focuses on Health Care (pdf), with several discussions of potential relevance to the future of genomics and personalized medicine, at least in the United States. The bulk of the chapter is devoted to issues of indisputable importance – e-care, health IT, mobile and rural healthcare delivery, for instance – that will be capably covered elsewhere. (mobihealthnews, for instance, is already providing coverage of aspects of the plan that will impact mobile health care: here and here.) However, Section 10.4 (“Unlocking the Value of Data”) offers up two important themes that are relevant to how at least one government agency views the future of genomics and personalized medicine.

The Value of Data. Section 10.4 begins with the declaration that “data are becoming the world’s most valuable commodity,” and carries on from there. The promise of data and health care is reflected, according to the plan, in the possibility of better treatment evaluations (i.e., comparative effectiveness research), personalized medicine, enhanced public health, empowered consumers and improved policy decisions. The timing of the plan’s release is propitious, particularly with respect to its discussion of the value of data to personalized medicine, as it coincides with today’s joint MedCo-Mayo Clinic study that supports genetic testing prior to prescribing the blood thinner warfarin (Coumadin) and last week’s decision by the FDA to update the label for the anti-clotting medication Plavix (clopidogrel) to reflect that patients with certain genetic variants may not effectively metabolize that drug.

In focusing on the value of data the FCC clearly indicates that it’s interested in liberating all types of healthcare data – patient and provider, administrative, research and clinical – from the “proprietary ‘siloed’ systems that do not communicate with one another and therefore cannot be easily exchanged, aggregated or analyzed.” Credit goes to the FCC for recognizing that this is not simply a matter of electronic medical record (EMR) adoption: interoperable data standards, as well as regulatory and policy changes that promote the free flow of data, are needed as well. Perhaps this will spur the NIH to speed up its review of its genomic-data sharing policies?

The FCC also explicitly recognizes the importance of aggregating data in the area of genomic research: “the analysis of combined genomic, clinical and real-time physiological data (often captured wirelessly) could help researchers better understand the interplay of genetics and the environment.” The need to construct rich datasets that combine genomic, environmental and trait data is one that we’ve written about at the GLR before, but it’s good to see the FCC on board as well. Maybe the FCC will send a representative to next month’s GET (Genomes, Environments, Traits) conference in Boston.

The Importance of Consumer Access. As for who should be receiving access to all of that health care data, the FCC has a single word answer: “consumers.” The problem today, as the FCC puts it bluntly, is that “there are too many barriers between consumers and their health data.” In fact, the FCC makes it quite clear that it is looking to individuals as consumers, not as patients, to take charge of their health care. According to the FCC:

…it is consumers’ data…Consumers armed with the right information could do a better job managing their own health, demanding higher quality services from their providers and payors and making more informed choices about care. With seamless access to their raw health data including lab data and prescriptions, consumers could plug the information into specialized applications of their choice and get personalized solutions for an untold number of conditions. (emphasis in original text)

This should make Thomas Goetz, and others who stress the importance of consumers taking control of their own health care, quite happy. While the brief section in the report focuses primarily on data access with respect to medical records, prescription data and lab results, the arguments could be easily extended to apply to personal genomic data as well.

With apologies to Camilla Long and others who would prefer that consumers be kept at an arms’ distance from their genomic and other health data, relying on physician gatekeepers when such data must be accessed, the FCC has taken an extremely consumer-empowering stance toward health data access.

The FCC also closes Section 10.4 by urging Congress to “examine and remove” the barriers that stand between consumers and their health data. The FCC is not Congress – or even the FDA – so it’s important to take these recommendations for what they are: recommendations to Congress. As we discussed in the context of the recent SACGHS gene patent recommendations, it’s a long road to travel from agency recommendation to positive Congressional action. Still, for those reading the regulatory tea leaves, it’s hard to view these recommendations in anything other than a positive light for personal genomics consumers, businesses and investors.

For better or worse, that’s where the instructions ended. The invited contributors identified the ELSI of their choice and discussed (or not) their rationale for so selecting as they saw fit. In addition to refraining from substantive editing, we intentionally avoided coordinating commentaries. Although we encouraged independent submissions from a variety of contributors and deprived them of any advance knowledge of what others in the series would say, one of our hopes was that consensus would begin to form around certain key ethical, legal and social issues.

To some degree this occurred. In collecting the series for the convenience of readers who would like to have all of the contributions in one place (pdf), we have ultimately settled on six broad topic headings for the commentaries, which are preceded by Jason Bobe’s call to arms for a new generation of “genomic astronauts.” It’s Mine! focuses on the privacy, ownership and access questions that continue to swirl around genomic information. Personalized Medicine in the Real World is wide-ranging, with commentaries that examine existing societal, scientific and governmental barriers to the implementation of personalized medicine, and several that propose specific solutions designed to eliminate certain of those barriers. In Too Much Information, the commentaries return to data and consider how individuals, clinicians, researchers and, ultimately, society will assimilate the coming deluge of personal genomic information. Back to School features several commentaries that make the case that improved educational models are the key to realizing the potential of genomics and personalized medicine. The commentaries in No _______ Need Apply focus on one of the most oft-discussed risks associated with personal genomic information―genetic discrimination. Finally, our commentators take a look to the future in Testing the Limits?, examining issues of genetic testing, modification and exceptionalism.

Although we have presented the series using these broad headings, as we undertook the task of gathering the commentaries and attempted to identify cross-cutting themes and trends, we came to appreciate even more the value of the series. That is, the commentaries simply do not fit into neat boxes. That was probably to be expected, given the variety and thoughtfulness of our contributors and the breadth and uncertainty that continues to surround the fields of genomics and personalized medicine.

Despite our organizational efforts, each of our contributors could easily have his or her own topic heading. And more than anything else, the diversity of ideas and opinions expressed in What ELSI is New? is its most significant contribution. After all, our other hope for the series was that the broad range of contributors would hold up seemingly familiar issues in new lights and see new connections. They sure did.

Dan Vorhaus

Editor, Genomics Law Report

December 2009