Jennifer K. Wagner, J.D., Ph.D., is a solo-practicing attorney in State College, PA, a post-doctoral researcher at the University of Pennsylvania’s Center for the Integration of Genetic Healthcare Technology

Earlier this fall, California Governor Jerry Brown signed SB559 (pdf), the bill referred to as “CalGINA” (i.e., the California Genetic Information Nondiscrimination Act). The bill was double-jointed with AB887 (pdf), the Gender Nondiscrimination Act, which ultimately meant that CalGINA would only take effect if Governor Brown also signed AB887 into law. He did so on October 9, 2011, so both laws are scheduled to take effect on January 1, 2012.

The Gender Nondiscrimination Act, AB887, clarifies that existing non-discrimination laws are intended to provide protection not just for sex but also gender, gender identity, gender expression, and sexual orientation. “Gender expression” is defined to include “gender-related appearance and behavior whether or not stereotypically associated with the person’s assigned sex at birth.”

The CalGINA, SB559, which has been discussed previously here at the Genomics Law Report, amends existing non-discrimination laws (namely the Jesse Unruh Civil Rights Act and the Fair Employment and Housing Act) to also prohibit discrimination on the basis of genetic information. It mimics the federal Genetic Information Nondiscrimination Act (GINA, Pub. Law 110-233), in its definition of genetic information: genetic information does not include information about an individual’s sex or age, but the definition does include genetic tests of an individual, genetic tests of an individual’s family members and family medical history.

The legislative intent explicitly described the scope of the federal version of GINA as “incomplete for Californians” (Section 1(j)). Unlike the federal GINA, which provides limited non-discrimination protection in the areas of employment and health insurance, CalGINA extends non-discrimination protection to additional areas, including the following:

1. Receipt of emergency medical services and care;
2. Recording and enforcement of restrictive covenants affecting interests in real property, including sales and rentals (fair housing);
3. Receipt of services, access to facilities, accommodations, and privileges “in all business establishments of every kind whatsoever” (business and professions);
4. Distribution of alcoholic club licenses;
5. Provision of financial assistance for purchase or construction of housing (mortgage-lending); and
6. Participation of any state-funded or state-administered activity or programs.

Additionally, CalGINA amends the Education Code to require public schools, particularly high schools, to have access to additional resources and to include programs designed to prevent hate violence. Ultimately, CalGINA amends the Business and Professions Code, the Education Code, the Elections Code, the Government Code, the Penal Code, the Revenue and Taxation Code, and the Welfare and Institutions Code.

Although signed into law in 2008, GINA is still in its infancy, with final regulations for Title I (covering health insurers) yet to be published (interim final regulations are here) and final regulations for Title II (covering employers) barely a year old. Furthermore, while GINA is a federal statute, it serves only to set the national floor for protections against genetic discrimination in employment and health insurance contexts by preempting any state statutes that are considered less protective.

CalGINA expands the scope of protections into areas other than employment and health insurance contexts and potentially increases the available remedies, as interpreted here for example. Even prior to GINA, some states had more stringent genetic nondiscrimination legislation on their books and, since GINA’s passage, other states (like Vermont and Massachusetts, in addition to California) have sought to follow suit.

As GINA becomes more familiar to states, insurers, employers and the public, expect the federal law and its state-level counterparts to begin to make more frequent appearances in the courtroom, where the issue of federal preemption may increasingly become relevant in litigation of genetic discrimination claims, a matter the GLR has covered previously with regard to HIPAA.

Personalized Medicine’s Perception Gaps. A new report released this week by the biopharmaceuticals company Quintiles (pdf) examines the perspectives of four key stakeholder groups – biopharma executives (n=200), managed care executives (n=153), physicians (n=503) and patients (n=1,000) – across a wide range of personalized medicine issues.

The report contains a number of interesting statistical nuggets about how these groups perceive their strengths, weaknesses and future role in the advancement of personalized medicine. These include the following:

• Only 44% of biopharmaceutical executives believe that their organization provides “readily available” outcomes data to demonstrate the value of medications;
• Healthcare professionals generally agree (65%) that patients who seek out information on their own achieve better health outcomes, but more than a third (36%) believe that patients are more frequently misinformed than they were five years ago;
• Fewer than half (44%) of doctors surveyed are optimistic that the quality of healthcare will be significantly improved over the coming decade; and
• At least a third of payers (33%) and biopharma execs (38%) believe that personalized medicine will have a negative effect on job and healthcare discrimination (this despite the passage of 2008 legislation (GINA) designed to prevent discrimination on the basis of genetic information in both cases).

Perhaps the most surprising finding of all is that patients appear to be largely unfamiliar with the entire concept of personalized medicine. Only 24% of patients surveyed had previously even heard of “personalized medicine,” indicating that healthcare companies and providers alike have considerable work remaining in order to bring personalized medicine into the mainstream.

The report concludes that there is “considerable misalignment among healthcare stakeholders on various aspects of the healthcare universe.” According to the report, physicians are frustrated by payers, payers are frustrated by a complex and ill-suited regulatory regime, biopharma executives are torn between maximizing health outcomes and maximizing value to shareholders and patients are “viewed by all groups as not doing enough to improve their own healthcare.”

Clinical Trial Innovations. One major barrier to the development of increasingly personalized therapies is clinical trial recruitment. The more personalized the therapeutic or diagnostic tool in development, the more difficult it is to locate patients who satisfy the trial’s enrollment criteria.

Enter PatientsLikeMe, the patient-driven health platform, which this week announced a new feature to help match patients with clinical trials more effectively. PatientsLikeMe’s new tool will query a government database of ongoing clinical trials (ClinicalTrials.gov) and “automatically match up members of the website with every clinical trial they may be eligible for based on their conditions and location.”

Also this week, pharmaceutical giant Pfizer announced a new form of “virtual” clinical trial which, according to NatureNews, will lower barriers to clinical trial enrollment by allowing “participants to receive medication, video-conference with clinicians, and report symptoms in the comfort of their own home.”

The announcements from Pfizer and PatientsLikeMe are just the latest in a serious of innovations seeking to leverage digital and social media tools to encourage more widespread and efficient personalized medicine research.

Personalized Medicine and Cancer. Despite the many challenges it faces – from scientific complexity to regulatory, reimbursement and intellectual property regimes ill-equipped to accommodate innovation – the present and future of personalized medicine was on display this past week as thousands gathered in Chicago for the annual American Society of Clinical Oncology (ASCO) meeting (see previous news).

To help us keep up with the latest developments in oncology, Luke Timmerman of Xconomy offered a detailed wrap-up of the major developments announced at ASCO by U.S. companies. In addition, at the Consumer Genetics Conference in Boston this past week, Illumina CEO Jay Flatley announced cuts in the company’s pricing for individual whole-genome sequencing, including an attractive $10,000 price point for tumor-normal pair sequencing of cancer patients. Finally, Matthew Herper of Forbes elegantly recapped outgoing ASCO president George Sledge’s big-picture perspective on “cancer’s new era of promise and chaos.”

Whatever the challenges, it remains clear that opportunities abound for personalized medicine companies and investors. A new survey from PwC’s Health Research Institute found that consumers are willing to spend approximately $13.6 billion per year of their own money on healthcare services. It found further that more than three-quarters (76%) of the Fortune 50 is comprised of either healthcare companies or companies with a health division.

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

• Troubling: 1/3 of managed care execs think personalized medicine will have negative effect on job/healthcare discrimination #quintiles
• Sad that more than 56% of MDs think that quality of healthcare will improve over next decade #quintiles
• MDs agree (65%) that patients who seek out information achieve better health outcomes, but 36% worry about patient misinformation #quintiles
• Also, managed care execs appear to have a dramatically inflated view of the value they add in educating/understanding patients #quintiles
• Note that only 44% of biopharma execs say outcomes data readily available to support value of new medications #quintiles cc @wilbanks
• Quintiles healthcare report is goldmine of data on MD, pharma, managed care & patient views http://bit.ly/jBNzx5 HT @cwhogg
• 76% of Fortune 50 companies are in healthcare or have a health division: http://bit.ly/iZaw6x HT @FierceHealth
• Re: last tweet, HIPAA as a floor, & not preemptive, will make compliance/sharing more difficult cc @wilbanks @danielg280
• Michigan court rules state law trumps HIPAA data disclosure/privacy provisions: http://bit.ly/jmeCkE
• The @Forbes NGS piece is garbage, but @matthewherper’s piece on genomic medicine & cancer remains a #mustread: http://onforb.es/iuOHrX
• Glad to see it. Hopefully would-be investors read to bottom. RT @matthewherper: I added my thoughts on the post. We agree (not surprising.)
• Health app accelerator @Rock_Health funds 11 startups, including @genomera: http://bit.ly/jWoJcI HT @InVivoBlogEllen
• Includes this gem: “[NGS] will also open door to creating superhumans w/ unusual intelligence or physical skills.” Really? @matthewherper?
• Unimpressed by @Forbes NGS article which amounts to advert for two cos ($ILMN, $LIFE) in which author holds shares: http://onforb.es/mr2jpx
• HHS releases add’l details on NIH reorg needed to produce NCATS, incl. proposed budget of $722M: http://bit.ly/makQKQ
• More clinical trial innovation: $PFE’s online-only trial aims to lower participation barriers: http://bit.ly/kX5P7B HT @bmahersciwriter
• Cont. innovation from @patientslikeme, using ClinicalTrials.gov to improve patient recruitment: http://bit.ly/joJuiP by @RyanMFierce
• My #sonyc slides from last night are online: http://bit.ly/ldIXMO Did my best to cover personal genomics in 5 slides.
• MT @LouWoodley: If you missed last night’s #sonyc on Science+Law it is now online: http://bit.ly/l4QCsO HT @science3point0
• RT @BiotechPatent: SCOTUS affirms clear & convincing standard for invalidity defense in #patent challenge http://tinyurl.com/44ga9b8
• Belated update re: House hearing on FDA med device approvals, feat. testy exchange with Shuren: http://bit.ly/m6TrhL HT @dgmacarthur
• Prev article on AUS nobel / genome publication mistakenly implies US law (GINA) prohibits life insurers from using genetic info. It doesn’t.
• RT @dgmacarthur: Awesome – Australian Nobel Laureate announces plan to publish his complete genome on the internet: http://bit.ly/j8yJyi
• Agenda here: http://bit.ly/jRmhfd Anybody live-tweeting? RT @FierceMedDev: Hatch, Hamburg, Shuren speaking at MDMA.
• Interesting. 63% (n=2137) said “yes” to FMR1. RT @PHGFoundation: Should babies be screened for untreatable disorders? http://bit.ly/k50xx8
• RT @DailyNewsGW: Roche, Merck Partner on Cancer Therapy Diagnostics: http://bit.ly/kRaB7o
• Genetic privacy may be doomed, as @razibkhan argues (http://bit.ly/jKKUY0). Question is, will that matter and, if so, what are our options?
• “Suggests online collection of self-reported data in recontactable cohort may be viable method for broad & deep phenotyping in large pop’n”
• MT @mary_carmichael: Just read @23andMe GWAS replications paper-in-progress. Neat stuff there. Congrats, @nkeriks! http://bit.ly/m0YJwb
• RT @dgmacarthur: Post on the wondrous Cambridge BioResource by @elainewestwick: http://bit.ly/ljKGjp (I’m in there too!)
• Wonderful time at #sonyc event on science & law w/ @SLSingh et al. Thx to @LouWoodley @JeanneGarb @j_timmer & rest of @S_O_NYC for invite.
• Although, to be fair, $10K for tumor/normal pair does represent a more significant price drop for $ILMN. #cgc2011
• Wonder how much extra $ILMN capacity is due to emergence of $GNOM, which is targeting $4K by 2nd half of ’11: http://bit.ly/iNrqo3 #cgc2011
• The fact that the WGS floor only dropped $2K (non-clinical drop is $10K) may be better indicator of ILMN capacity #cgc2011
• Here’s today’s $ILMN presser on WGS pricing: http://bit.ly/l9IPmB Compare to last June: http://bit.ly/j8KLeu #cgc2011
• Wish I could be at (or at least following along) #cgc2011. Follow @wimufi @davidpendletonk @RDGene & others for live tweets
• Ready for the $1K genome? 3 great posts @genomesunzipped: http://bit.ly/l7kQYEhttp://bit.ly/iqnH6vhttp://bit.ly/jfYNj1
• Pfizer ($PFE) investing $100m in Boston research collab; another attempt to bridge “valley of death”: http://bo.st/iFUcip by @Globecarolynyj
• Done panicking cell phone users, WHO shifts focus to genomic “grand challenges” for developing world: http://bit.ly/mfucTd
• Another NGS play: “sequencing by expansion” RT @DailyNewsGW: Stratos Genomics Raises $2.1M: http://bit.ly/jCzLXX
• Looking forward to participating in tonight’s #sonyc panel on Science & the Law w/ @SLSingh et al. http://bit.ly/koLQ6c
• Sen. Sanders introduces legislation (again) to reward new drugs with cash prizes, not patents: http://bit.ly/lcgm5S
• Updating the DTC Debate: Trial by PR, More FDA Letters, the Problem of Pleiotropy & New RUO Guidance http://bit.ly/jXJzHh
• RT @EdwardWinstead: RT @matthewherper: Cancer’s new era of promise and chaos. #ASCO11 #genomics http://onforb.es/jNZVtr
• Chicago for #ASCO11 to discuss current state of DTC genetic testing. For those not here, an update: http://bit.ly/jXJzHh
• RT @Sagebio: disclose full results and data to address epidemic of false claims; J. Ioannidis in SciAm http://bit.ly/jsaxDZ
• Rescheduled House committee hearing on FDA/medical devices to be held tomorrow: http://bit.ly/iDRdzz
• Follow @DNAlawyer for #UVAGEL tweets http://bit.ly/jcnHFv Muin Khoury arguing “no sci foundation” for personal genomics, incl. PGx?
• RT @dgmacarthur: More press-release scare-mongering about personal genomics – my response: http://bit.ly/j0VWxf
• NYU opening Center for Genomics and Systems Biology tomorrow: http://bit.ly/jnYIbB HT @DailyNewsGW cc @S_O_NYC
• Looks like a great program. RT @DNAlawyer: UVA GEL symposium is tomorrow and Thursday. I’ll be there. http://bit.ly/jcnHFv
• Interesting GINA proposed as a model. Focus on use makes sense; outright ban doesn’t. Health & genetic data must be used, just used properly
• NYT examines health data privacy, re-identification & control. http://nyti.ms/jlgEeu HT @FierceHealth
• MT @mary_carmichael: Study: “strong link b/w happiness & 5-HTT:” http://bit.ly/mHXjP3 More news, green jelly beans cause acne: xkcd.com/882/
• ESHG annual conf starts today, incl. plenty of anti-DTC genetic testing sentiment: http://bit.ly/iZ7fnd HT @shwu
• FDA mtg to nominally focus on analytical validity for NGS. But that’s only one part of broader debate re: FDA & next gen of clinical tools.
• More FDA: on 6/23, FDA holding public meeting on use of NGS platforms in clinical setting: http://1.usa.gov/liUKNg
• Summary of April’s FDA strategic priorities plan by@GENbio: http://bit.ly/iRhcZa Very high level, funding a challenge.
• amednews on the coming regulation of FDA medical apps: http://bit.ly/lshHTQ HT @GeneSherpas cc @mobilehealth
• Asked as an aside: how would FDA regulate Dr. Watson? (Not as far off as it appears. WGS Dx software coming soon, poses similar challenge.)
• For more on Dr. Watson, highly recommend this Feb piece from @PGxReporter: http://bit.ly/iF3VNC Major need: better data collection, sharing
• IBM’s Watson now “as good as smartest second year med student”; widespread use still 8-10 yrs out http://onforb.es/llIAO2
• 1st issue (& t-shirts) already out. RT @wilbanks: Citizen Science Quarterly, a CC licensed journal. via @doctorow http://bit.ly/lLGYjw
• British Columbia court rules against anonymous sperm & egg donation. Will rest of Canada follow suit? Will US be next? http://bit.ly/jTJADw
• Here’s the link to the survey on “the informational aspects of genetic tests” (takes ~5 min): http://bit.ly/kZjjdD
• Genetics of CF severity, a survey of DTC customers and the value of a genetic diagnosis from @genomesunzipped: http://bit.ly/mTYMQi
• Telomeres predicting lifespan? Blackburn: “that’s just silly, isn’t it?” Interview w/ @NatureNews on future of field: http://bit.ly/kEmbwp
• Update on Patent Reform Act progress in Congress from @GENbio: http://bit.ly/jZHH0l
• Poor job by NYT failing to link DNA fish fraud story to earlier teen citizen scientists http://nyti.ms/jh49yA @matthewherper @leonidkruglyak
• RT @DailyNewsGW: $MYGN Teams with Topin to Market OnDose to Oncologists: http://bit.ly/merPqJ
• $GNOM continues to raise more $, talk expansion: http://bit.ly/mwUb06
• Facebook & pharma seeking to sort out social medial policy: http://bit.ly/lek4cG
• RT @wilbanks: Bob Cook-Deegan, a living legend in the gene wars, talks about gene patents. Read. http://bit.ly/lT2n3O
• And on a Friday to boot. RT @Duncande: With my full genome sequenced (by PGP at Harvard & $GNOM), I’ve been designated “PGP 13″ – lucky 13!
• Good question MT @blaine_5: DTC ELSI issue: why aren’t bone marrow donors informed of risk of genomic analysis by bone marrow recipients?
• Authors: “to delay policy-making decisions until all poss qs answered wrt DTC unrealistic given state of field.” I agree. HT @eurogene
• Good NEJM back-&-forth re: Bloss, @EricTopol, et al.’s Feb article on effect of DTC genetic testing: http://bit.ly/lhhqbj
• Genetic Technologies Sues 10 Firms for Infringement on a Method to Determine Haplotype: http://bit.ly/imgHmE HT @blaine_5
• Inspection, Compliance Data Disclosure to Be Widened by U.S. FDA: http://bloom.bg/mJEyCi
• Survey: 2/3 of small med device & Dx firms prefer EU in seeking 1st regulatory approval. Shuren: “we’re on it”: http://bit.ly/kIjqkD
• RT @PGxReporter: In latest PGx pact w/ Population Genetics, Quintiles aims to save Pharma money & time http://bit.ly/lFbogm
• RT @PHGFoundation: Retention of cleared suspects’ DNA by police ruled unlawful http://bit.ly/lRfyIN
• +1 RT @genetics_blog: neat RT @moorejh: Topic map of all grants awarded by the #NIH in 2010 http://is.gd/IfzuzG
• Good, but won’t WGS soon obviate need for mult tests? RT @westr @DivaBiotech: New Genetic Testing Tech for IVF Embryos http://bit.ly/iHNBPc
• Nuffield launches public consultation on ethical/social issues arising from emerging biotechnologies: http://bit.ly/lf07df
• RT @rzeiger: Interesting Google job to run internal health + wellness programs. Ping me if u want to learn more http://goo.gl/ULPvF
• RT @girlscientist @ClinSeqNews: HudsonAlpha Researchers to Sequence Immune Repertoires of 10K Indiv. for 100 Diseases http://bit.ly/kQmHH3
• From Toll House cookies to gastrointestinal diagnostics. RT @DailyNewsGW: Nestle Health Science Buying Prometheus Labs: http://bit.ly/kp1IkI
• RT @InSequence: Life Tech, Gen-Probe to Collaborate on FDA Clearance for Dx Assays on CE Sequencer: http://bit.ly/jH9YiK
• The license out as the biotech end game? MT @ldtimmerman: How to make $ in biotech beyond IPO, M&A http://bit.ly/kczVun
• A new model for @23andMe? @ldtimmerman reports it is rebranding itself as “a research company”? http://bit.ly/k8ImME
• RT @matthewherper: Biopharm execs: We want to focus on the future, but investors won’t let us. http://ow.ly/51GRS
• The challenge of therapeutic success. Or “Innovations of today increase cost of innovations tomorrow”: http://bit.ly/ltLLoj HT @MishaAngrist
• GLR Post: Patent Update: Looking Beyond Section 101 & Continued Murkiness of Method Patents: http://bit.ly/ii5arT
• Precision Quality DNA (recent FDA letter: http://1.usa.gov/mgciWO) has strong feelings re: DTC reg: http://fda.pqdna.com
• Looking forward to some great brainstorming at “The Future of Pathology in Personalized Medicine”: http://bit.ly/ll5LqQ
• Great @DanielSolove column: “Why Privacy Matters Even if You Have ‘Nothing to Hide’”: http://bit.ly/lXG6O7 HT @MishaAngrist
• “The Privacy Challenge in Online Prize Contests” in NYT http://nyti.ms/kFVVgt w/ a HT to @23andMe’s consent form.
• What does the future hold for biotech & VCs? Interesting Q&A in Nature’s bioentrepreneur: http://bit.ly/ki35i3
• First VT, now CA. RT @FierceHealth: Another state considers single-payer #health system http://bit.ly/lTvRec
• RT @FierceBiotech @ScottKirsner: VCs on boards of directors: 1 not enough but > 2 is dangerous. Like martinis. -Bob Higgins @HighlandCapital
• Good. incls dedicated investment to improving reimbursement. RT @DailyNewsGW: UK Groups Investing in Pers Med Projects: http://bit.ly/lbORVW
• +1 RT @matthewherper: Should we just let athletes use performance-enhancers? Why we’re dopes about doping: http://ow.ly/4Zqc9
• Yes, re: NIH budget cuts RT @drjonboyg: the @Battelle & UMR reports show how short sighted that is given huge economic impact of NIH funding
• Collins comments on BGI at end of article also interesting. Maybe NIH funding bump if China viewed as more of a threat?
• Looming NIH budget cuts “sobering”; may drive grant success rate to “lowest in history”: http://bit.ly/jt14vo
• RT @WSJHealthBlog: The CDC’s zombie apocalypse juggernaut: next up, a video contest…..http://on.wsj.com/kShypJ cc @kashhill
• My anecdotal data similarly bleak. RT @DNAlawyer: Anecdotal data: only 2 of my undergrad students @ Duke heard of GINA before I covered it.
• Two comments: 1) pre-06/07 DTC surveys tough to compare to post-07 DTC surveys (diff products). 2) wish some actual data on GINA awareness.
• Oregon has collected data on state-led pop’n surveys of genetic testing use/awareness: http://1.usa.gov/mTMmRj HT @ewencallaway
• RT @dgmacarthur: Joe Pickrell’s discusses potential artefacts in the Science RNA-editing paper at @genomesunzipped: http://bit.ly/jUVz6t
• Note $MYGN’s planned EU expansion to begin in Germany. New Gene/Myriad headed for conflict? Prev GLR: http://bit.ly/fylYeL
• NewGene’s NGS-Based BRCA1 & BRCA2 test coming to France, Germany http://bit.ly/lXZmxk HT @MattMealiffeMD @BRCAscoop
• Missed ind. research results (IRR) & incidental findings (IF) conf (http://bit.ly/epMlQm)? Great live tweets by @genome_gov et al. #ifirr
• RT @bigs: keep liking NIH’s Kathy Hudson more & more. ‘what we want is for every (person) to be a (research participant) as well’ #IRBreform
• RT @Erika_Check: Pickrell will be posting more on possible artifacts in DNA/RNA mismatch study tomorrow @GenomesUnzipped.
• RT @Erika_Check: DNA/RNA mismatch story getting more interesting. Joe Pickrell: “many of the results reported are potentially artifactual”
• Surprised? RT @GENbio: Pres bioethics panels sometimes choose topics driven by political pressure than scientific need http://bit.ly/iIYhdN
• NIDS Eyes Next-Gen Sequencing Needs: http://bit.ly/mRQohw
• Looking forward to @crossborderbio ongoing series on “Valuation and Other Biotech Mysteries”: http://bit.ly/j8Sb5R
• RT @matthewherper: @BiotechPatent This Forbes writer thinks the idea that medical prices are closely connected to dev costs is wrong.
• Forbes columnist takes aim at impending medical device tax: http://onforb.es/jJdYIb HT @BiotechPatent
• Stem Cells: The growing pains of pluripotency: http://bit.ly/m077oj Excellent, comprehensive piece by @Erika_Check
• RT @LifeSciVC: Good to see positive trend. RT @nvca: Venture Capital Performance Continues to Improve http://bit.ly/klA8fi cc @JCainHart
• Intrigued by @HelicosUnveiled (http://bit.ly/iqLNz5) which appears to be unsanctioned PR for Helicos. Other exs of this?
• RT @EdwardWinstead: Timely… Eric Lander at NIH 5/20 11:30 a.m.: From the ‘Genetic Code’ to the ‘Genetic Code’ webcast
• Enough frustration to actually produce change? RT @NatureNews: US panel calls for reform in human subject protection http://goo.gl/fb/kS28S
• RT @MattMealiffeMD: RT @adamfeuerstein: The thing you will mostly notice about #ASCO11 abstracts is that there isn’t a ton of new data.
• RT @genome_gov: Joseph Thankuria – Informed Consent, Biobanking, and Data distribution in the Personal Genome Project #ifirr
• I look fwd to “intense criticism” forecast by @dgmacarthur. MT @Erika_Check: DNA/RNA mismatches challenge central dogma http://bit.ly/ijeWvd
• A personal genomics challenge from @blaine_5 to @genomesunzipped readers (& the rest of you as well): http://bit.ly/jUeXqB
• Telome Health suggesting monthly telomere checkups? http://bit.ly/ldvZpD (see sidebar) Great business model if you can sell it.
• Yes. Life, disability & long-term not covered by GINA (state rules vary) RT @drjonboyg: @genomicslawyer except for long term life insurance!
• Also, I don’t understand the confusion/concern about telomere testing (DTC or otherwise) & discrimination. Clearly covered by GINA.
• On DTC telomeres, #1 I would not be surprised to see another round of “come meet with us” letters from the FDA.
• While the Post tackles DTC athletics, the NYT is featuring an even newer DTC fad: telomere testing: http://nyti.ms/kKtk77
• Canada pursuing its own version of GINA (genetic nondiscrimination legislation): http://bit.ly/iA8bjC HT @mikesgene
• Medco Drug Trend Report predicts cancer drug spending could rise up to 15%/year through 2013: http://bit.ly/ioLIPn
• RT @MichelleNMeyer: @drjonboyg & @genome_gov live tweeting conf on return indiv research results (IRRs) & incidental findings (IFs) #ifirr
• HT to CDC for realizing that best way to teach emergency preparedness is via zombie apocalypse: http://on.wsj.com/kkAD0W
• Rob Stein tackles DTC genetic testing for child athletes in today’s Post: http://wapo.st/lsrkpH AIBS just received FDA ltr
• PGP-1K continues progress. MT @Duncande: It’s official, my complete genome has been sequenced! Thx to PGP (@PGorg) & $GNOM
• Chinese biotechs wrestle with transparency, cultural hurdles (NBT): http://bit.ly/jw3zcU (And you think it’s tough here)
• Interesting post on @23andMe, data sharing and “the altruism instinct”: http://bit.ly/jHfkG1
• More med companies adopting social media (& policies), but 52% say lack of FDA guidance impeding uptake: http://bit.ly/jC1tE0
• RT @MishaAngrist: ENCODE gets ENGORGED http://bit.ly/kvs7S7
• 1K genomes project update from @InSequence: http://bit.ly/lesrH3 WGS & exomes for 1K ppl, another 1K+ on the way
• Genomic Health repaid $800K in royalties due to Incyte’s failure to maintain IP: http://bit.ly/j3H1PN Lesson: pay the PTO on time
• U of Washington, Pharmigene resolve IP dispute around warfarin dosing, agree to license: http://bit.ly/joZucZ
• RT @ldtimmerman: Hood: I despair whether in US we can sequence enough ppl, families. China will. IRBs too much of an obstacle here isb2011p4
• RT @ldtimmerman: Schadt talked all about PacBio machine, not Mt. Sinai, or Sage, to this high-science audience #isb2011p4
• Good overview in NBT of NGS providers & why they are eying clinical seq as their next market opp: http://bit.ly/lYUGRS
• RT @PGxReporter: Medco to Evaluate Clinical Utility of AssureRx’s PGx Test in Guiding Psychiatric Treatment: http://bit.ly/lWZWvL
• RT @dgmacarthur: How a @23andMe test profoundly changed a woman’s life in two very different ways: http://bit.ly/jbO7Yq
• #ASCO11 abstracts come out today. @brianreid has a modest proposal to ‘socialize’ the process for 4,000+ abstracts: http://bit.ly/lZMCzy
• Upcoming debate b/w Phil Sharp & Stephen Friend (moderated by @ldtimmerman) on pro/con of open source biology: http://bit.ly/jshQ77
• European Society of Cardiology says Europe needs a “single, coordinated” system for regulating medical devices: http://bit.ly/iCelNF
• Some candid advice from @LifeSciVC on how to pitch a biotech startup to VCs: http://onforb.es/jwO8LP
• Genetics as Culture in a Consumerist Age: http://bit.ly/kPvgiX Submit a poster/presentation & come join me in Innsbruck.
• Some good talks over the weekend at #ISB2011P4, tweeting supplied by @ldtimmerman, @finchtalk, etc.
• RT @MishaAngrist: Does Pac-Bio have a PR problem? http://bit.ly/jUAFar $PACB
• Here’s @ldtimmerman detailed take to the Schadt/$PACB/Mt. Sinai move: http://bit.ly/k2xjI8 Good to see more genomics $/talent coming to NYC
• AMP position statement recommends against using brand names in companion Dx labeling: http://bit.ly/mjbpPi by @SampleGW
• RT @Sagebio: “a brilliant rebel in the field of genomics” A. Pollack on Eric Schadt move to Mnt Sinai http://nyti.ms/lIwJ7S
• RT @RyanMFierce: More buyouts to come? RT @FierceBiotech: PerkinElmer acquires Labtronics, buyouts pile up. http://bit.ly/l5owst
• Short @techreview piece on another nanopore-based seq play, Noblegen: http://bit.ly/kqAs25 Gaudy goal: 30 genomes, 15 min
• Lumigenix FDA/DTC letter (http://1.usa.gov/jxBtS6) far more conciliatory in tone than similar letters last summer (http://bit.ly/aGpLU0)
• Australian DTC company @Lumigenix receives FDA inquiry letter: http://1.usa.gov/jxBtS6
• Health Insurers Making Record Profits as Many Postpone Care: http://nyti.ms/k1jwBs via @twilli2861
• Summary of Battelle report on economic impact from Human Genome Project from @drjonboyg / @genome_gov: http://1.usa.gov/itBVMr
• RT @JohnCFierce: In-depth article from Forbes on the development of India’s biotech hubs. http://onforb.es/iesQxC
• Verghese op-ed (http://nyti.ms/mD8twZ) led to post on ‘iPatient’ (http://bit.ly/lqqR5M). Lots of work to do redefining what “patient” means.
• Hah RT @bmahersciwriter: I’m so tempted to buy plush microbes from the CSHL gift shop. Wife: What did you bring me? Me: Chlamydia. bg2011
• Detailed summary of FutureMed Day 1 from @Medgadget http://bit.ly/kq1XIc HT @daniel_kraft & congrats to @tgoetz on his new company, 1+1 Labs
• RT @matthewherper: Beating Moore’s Law Since January 2008! My post on bg2011 http://ow.ly/4U4u8
• In context, this is incredible. MT @lukejostins: GM on 1000 Genomes Project. Now have 1094 whole-genome, 977 exomes, 1542 2.5M chips BG2011
• MT @dgmacarthur: GM: Feb 2000, 98% of SNPs in sequenced individual were novel. Now # is down to ~1%. bg2011 (Gabor Marth on 1K Genomes proj)
• 41yo woman w/ BRCA mutation & recent history of Breast Cancer (NEJM): http://bit.ly/isJG0O Interesting patient perspective on testing, risks
• How to calculate your own Alzheimer’s risk, based on genetic and environmental data http://bit.ly/jZ5Dlh @genomesunzipped by @lukejostins
• RT @dgmacarthur: Key message from the meeting so far: we are assigning function to non-coding variation at an astonishing rate. bg2011
• Great idea. See @matthewherper’s latest for related. RT @bigs: Teller proposes ‘sequencing the human lifestyle’ in add. to genome #futuremed
• RT @matthewherper: What should we sequence after the genome? Mark Changizi has an interesting answer: http://onforb.es/iqmBu6
• Also includes working catalog of other public genomic data RT @razibkhan: Ashkenazi 23andMe v3 genotype for the taking: http://bit.ly/iCiKPE
• RT @genome_gov: Watch NHGRI’s Advisory Council meeting May 16, 8:30 a.m. Webcast: http://bit.ly/jsFeIA. Agenda: http://1.usa.gov/mvmMTs.
• GLR Post: New Diagnostic Guidelines & DTC Testing for Alzheimer’s Disease: http://bit.ly/mHDi6Y
• SAS forming “think tank” to look at how healthcare & life sciences cos use its analytics software: http://bit.ly/ldjJeW via @RyanMFierce
• Latest on Fabrazyme dispute: patients allege Genzyme diverting ltd drug supply to European patients: http://bit.ly/kMs3nG
• Good q. Payors have leverage, GH knows it. RT @MattMealiffeMD: can you be both payors “agent” & “neutral arbiter”? http://bit.ly/jpt0KB
• CardioDx closes out Series E to the tune of $60M, will focus on expanding reimbursement coverage: http://bit.ly/k2uvyp
• Generation Health program tackles two key challenges: lack of transparency (runs in both directions) & lack of data. Here’s hoping it works.
• Generation Health launches ambitious pilot program to bridge the gap b/w Dx providers & payors: http://bit.ly/jpt0KB
• MT @dgmacarthur: analyses of early @iontorrent data by @pathogenomenick (http://bit.ly/miHnoj) & Keith Robison (http://bit.ly/jYemtG)
• Interesting @NatureNews piece on Anil Potti & how scientists view & manage their online reputations: http://bit.ly/iHFAx8
• $GNOM update: a backlog of genomes (>2k) & plans for aggressive pricing, new machines & ~1K genomes/month by year end: http://bit.ly/mCeeJC
• RT @PGxReporter: Continuing Push to Diversify Offerings, Myriad Licenses Chronix’s Early Cancer Detection Technology: http://bit.ly/ijzK1t
• Is public’s (not scientists’) reluctance to question Bin Laden DNA ID evid. of genetic exceptionalism? http://bit.ly/jCG7me by @Erika_Check
• VA db a great potential resource. Too bad it’s relatively closed & researcher-only (i.e., no EHR linking or participant data return)
• Veterans Affairs to create genomic research database with 1M vets: http://bit.ly/m6zWSg via @PGxReporter
• RT @MishaAngrist: Of 113 med devices recalled from 05-09, 80 (71%) fast-tracked by FDA: http://bit.ly/jLNN2s (via journalistsresource.org)
• $800B or not, Jim Evans says expectations for personalized genomic info remain too high: http://bit.ly/e0eBdA HT @MishaAngrist
• RT @bmahersciwriter: Great piece dissecting the logic of an $800bn return on investment for the human genome http://bit.ly/jW0pAO
• $LIFE-funded study: $800bn = economic impact of human genome project http://on.wsj.com/lnmQkL Report http://bit.ly/mAXixa
• CDER chief Woodcock says FDA expects to issue biosimilar guidance this year: http://reut.rs/j5nlCi
• RT @lukejostins: A conversation with @elainewestwick about sharing data, newborn screening and carrying cystic fibrosis http://bit.ly/mQjdBa
• Settlement in MA wrongful birth case: http://bit.ly/jZSXBt For past GLR coverage: http://bit.ly/9u060V
• RT @InSequence: Granting PacBio’s Reexamination Request, USPTO Invalidates All Four Helicos Patents: http://bit.ly/mT4fZF
• Study on how info affects DTC genetic testing decision: http://bit.ly/ki7QqR Anybody read/have the underlying study?
• RT @dgmacarthur: Have a burning question to ask genome visionary George Church (@geochurch)? Ask away: http://bit.ly/kHX0bF (via @ianholmes)
• PerkinElmer acquires Geospiza (@finchtalk), beefing up software for DNA analysis http://bit.ly/jGYiiM by @ldtimmerman
• Recent case further evid Fed Cir may leave 101 open, tighten other patentability criteria. See: http://bit.ly/gba0FI
• Fed Cir recently invalidated pair of DNA diagnostic patents: http://bit.ly/l411JS Will try to get analysis on GLR nxt wk
• The latest PGM vs. MiSeq ad from @iontorrent is out: http://youtu.be/gStCvyGpnRU Prev discussion here: http://bit.ly/fTkxlD
• Second rd of #FDADTC comments now appearing on regulations.gov (search FDA-20111-N-0066). Expect more in coming days.
• ZyGem, Lockheed developing portable forensic DNA platform: http://bit.ly/kha4Nj Goal: ID next Bin Laden in field in < 1 hr.
• GLR Post: News Roundup: Biotech Funding & LDT Regulation: http://bit.ly/jYTzWz
• This piece on Sulston, the human genome project & the Wellcome Trust by @markgfh is simply fantastic: http://bit.ly/miiX4X
• RT @dgmacarthur: .@nilshomer has joined the genome sharing gang – his @23andMe data are publicly available under CC0: http://bit.ly/lfLM22
• GLR Post: The Next Social Media Revolution Will Occur In…Personalized Medicine? http://bit.ly/lMimh7
• BRACAnalysis drives $MYGN revenues higher; company expects Euro launch in ’12: http://bit.ly/jyQ5Yj
• Supreme Court Case on Script Data Sale Presents ‘Gray Area’ for PBM Personalized Rx Efforts: http://bit.ly/lygTKo
• FTC continues fight against pay-for-delay drug deals, chairman calls them “outrageous”: http://bloom.bg/msSVrG
• RT @crossborderbio: Based on survey of clinical research site pros RT @JohnCFierce: top 10 CROs in CenterWatch survey: http://bit.ly/moqDGu

UK Insurers Continue Moratorium on Predictive Genetic Tests. In 2008 the United States passed the Genetic Information Nondiscrimination Act (GINA). Title I of GINA prohibits health insurers from using genetic information to deny coverage or to set premiums or payment rates. Title II of GINA addresses the use and misuse of genetic information by employers. In the United Kingdom, which provides universal health coverage through the government-funded National Health Service (NHS), discussion of genetic nondiscrimination has largely focused on the employment context (see, e.g., the 2009 report on Genomic Medicine from the House of Lords). To date, however, the United Kingdom has not enacted a formal prohibition on the use of genetic information by either employers or insurers.

Although the U.K. lacks a formal counterpart to GINA, in 2001 the Association of British Insurers (ABI) and the government’s Department of Health did establish a voluntary moratorium on the use of predictive genetic testing by insurers. According to the ABI:

The moratorium means the results of a predictive genetic test will not affect a consumer’s ability to take out any type of insurance other than life insurance over £500,000. Above this amount, insurers will not use adverse predictive genetic test results unless the test has been specifically approved by the Government. Only around 3% of all policies sold are above these limits. The only test that is approved is for Huntington’s Disease.

The moratorium was initially scheduled to expire in 2011. It was extended until 2014 in 2008 and, this past week, it was extended again, to 2017. The moratorium is scheduled to be revisited again in 2014.

Myriad Oral Argument. As regular GLR readers already know, the latest development in the Myriad gene patent litigation occurred on Monday. The Federal Circuit heard oral argument in the case, which will likely be the last public step before the three judge panel issues its opinion in several months. We’ve already discussed here at the GLR what we learned from the Myriad oral argument, but there has been excellent coverage of the case elsewhere as well. At the Pharmacogenomics Reporter, Turna Ray explored the somewhat confusing position Myriad took at oral argument with respect to the relationship between the company’s BRCA patents and whole-genome sequencing. In addition, the lead up to the oral argument also produced some interesting analyses, including at The Atlantic, where Andrew Cohen provided a play-by-play account of the events to date, and at Nature.com, where Shobita Parthasarathy focuses on how Myriad, regardless of its outcome, has produced “a more democratically engaged patent system.”

One other patent-related note: for those who are wondering what a government shutdown later today might mean for the US Patent Office, Patently-O has the answer. [Update: Nature also has an excellent high-level overview of how a shutdown will affect various government agencies, including the NIH and the FDA.]

Breast Cancer’s Complexity. Finally, a recent study from researchers at Washington University in St. Louis serves as a reminder that our knowledge of breast cancer, despite the ongoing litigation over the BRCA1 and BRCA2 genes, is still woefully incomplete. Scientists led by Matthew Ellis have sequenced the whole genomes of fifty patients’ breast cancer tumors along with matching DNA from the same patients’ healthy cells. They presented these results at the Annual Meeting of American Association for Cancer Research on April 2nd and revealed that most of the 1700 genetic mutations discovered were unique to individual patients’ tumors and only three occurred in 10% or more of the patients.

The sample was from patients in clinical trials of estrogen-lowering drugs known as aromatase inhibitors. Patients who are not responsive to such drugs have lower survival rates, but scientists do not know what causes these differences. One such association was for the breast cancer suppressor gene MAP3K1, which produces a protein that accelerates programmed cell death. MAP3K1 mutations were associated with the aromatase inhibitor-sensitive–more favorable–type of disease and were present in about 10% of the tumors. This result may be beneficial for pharmacogenomics research aimed at targeting particular types of breast cancers – similar to the research that led to the Genentech drug, Herceptin.

The next step will be to repeat the experiment with a much larger sample size (at 1,000 tumors), an indication of just how far we have to go when it comes to truly understanding how diverse cancers operate in equally diverse individuals.  Additional coverage is available from GenomeWeb and The Wall Street Journal.

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

• RT @GenomeWeb_News: Macquarie Begins Coverage of five clinical labs, incl Genomic Health, Myriad Genetics: http://bit.ly/g1JS7n
• Using BRACAnalysis as companion Dx RT @GenomeWeb_News: Myriad Partners with BioMarin on PARP Inhibitor: http://bit.ly/fMVasv
• More on Myriad & WGS by @pgx_reporter (http://bit.ly/eleiCG) but, really, no clear guidance in oral argument & doubtful in opinion either.
• RT @daphnezohar: Taking a closer look at the significance of statistical significance http://on.wsj.com/gDOkTF
• MT @CompleteGenomic: We’ve added 29 human genome sequences to public repository. 69 avail now <http://bitly.com/gyvaVo>
• RT @GENbio: Translational Research Is the NCATS’ Meow for Growing NIH’s R&D Role http://bit.ly/goYKfo
• Genetic data & no use for it *right this second*? Throw it away, obviously. @MishaAngrist w/ a too-rare blogging foray: http://bit.ly/fA6rNY
• For the full HGC report & recommendations – which are perfectly sensible – on carrier screening see here: http://bit.ly/hLkLeI
• Carrier screening a “modern version of eugenics” & “immensely dangerous”: http://bbc.in/f77iR1 Big, scary words for short, cursory BBC story
• MT @dgmacarthur: My carrier test op-ed (http://thetim.es/guUD0n) & excellent piece by @markgfh (http://thetim.es/guUD0n) – both £, sadly!
• RT @FierceBiotech: Gene-patent courtroom drama plays out in Washington. http://bit.ly/dSxcja
• GLR Post: What We Learned From the Myriad Oral Argument: http://bit.ly/gRUaiB (Short version: wait until June)
• RT @NatureNews: Patent dispute threatens US Alzheimer’s research http://goo.gl/fb/MH9vN
• RT @dgmacarthur: Computation guru Stephen Wolfram had his genome sequenced by $ILMN, found little of interest: http://bit.ly/ewNNhs
• RT @JohnCFierce: WSJ adds its own bleak assessment of biotech IPO market. Weak demand gives pharma an edge. http://on.wsj.com/fECZOe
• RT @bioitworld: UK insurers renew moratorium on using predictive genetic tests (except Huntington’s) http://bit.ly/eX4akZ
• Not first time in ’11 contingency plan developed. RT @ScienceInsider: NIH’s ‘Secret Plans’ for a Government Shutdown: http://bit.ly/i9TG71
• RT @ldtimmerman: Welcome to New York post from @xconomy NY editor Arlene Weintraub @awjourn http://bit.ly/g1ti4A
• HHMI announces $60M grant competition challenging universities to “think creatively” about science education: http://bit.ly/f02DHm
• RT @GenomeWeb_News: Oppenheimer Revises Revenue Estimates for Life Technologies: http://bit.ly/f1YPRj
• RT @GenomeWeb_News: Goldman Sachs Adjusts Illumina EPS, Revenue Estimates: http://bit.ly/gxvT20
• Welcome to NYC! RT @Xconomy: Xconomy opens in New York City, the sixth hub in our expanding network: http://bit.ly/hhP1Oz
• Audio from Myriad gene patent oral argument is now available online: http://bit.ly/dMLSYK
• RT @InSequence: Cancer Genome Atlas Aims to Sequence 3,000 Tumor/Normal Pairs by Year-End: http://bit.ly/h3sIgH
• RT: @ipwatchdog WH to hold Startup America Roundtable in St. Paul on April 6th http://bit.ly/h5xlcs includes reducing barriers roundtable
• RT @GenomeWeb_News: Ion Torrent Certifies Ambry Genetics: http://bit.ly/geT9vf
• Hard question to which there is no current answer RT @23science: will FDA send VU a letter too? http://bit.ly/hWijEt
• Vanderbilt’s ambitious attempt to integrate EHRs & genomic data/research for cancers: http://bit.ly/hWijEt Much more like this needed.
• RT @23andMe: DTC Genetic Tests and the Future of Regulation: Make Your Voices Heard: http://bit.ly/g8ECDz #FDADTC
• GLR (Re)Post: A Spectator’s Guide to Today’s Oral Argument in Myriad Gene Patent Litigation: http://bit.ly/eqbjz9
• Next step: repeat with 1,000 more. RT @NatureNews: Fifty genome sequences reveal breast cancer’s complexity http://goo.gl/fb/f5Hxk
• RT @GenCounsNews: Collaboration among multiple Alzheimer’s research groups leads to id of new genes http://nyti.ms/exEFSC
• Update to the @PGorg website includes publicly available copies of revised consent forms: http://bit.ly/hC2YH1
• RT @mikesgene: Post-Doctoral Position at Center for Genetic Research Ethics and Law http://bit.ly/dRlNXq #genome #GE3LS
• (And congrats to @shwu on the author credit for the 24th chromosome. Can a nobel be far behind for such a momentous discovery?)
• Heh. RT @23andMe: Blog Post- 23andMe Discovers 24th Chromosome, Changes Name to 24andMe: http://bit.ly/eSmZSG
• Isn’t seeming “pointless but cool” a great result for a new ad? re: Ion Torrent’s tilt-shift video ad: http://bit.ly/hVOSpP HT @dgmacarthur
• Friday Links @genomesunzipped: @23andMe confirms identical twinnery; tell FDA what you think about DTC genetics: http://bit.ly/eReQPD
• RT @shwu: All #FDADTC presentations and comments (submitted by Mar 1 deadline) now available at http://1.usa.gov/i24b7F
• RT @InSequence: Grants Drive 47 Percent Growth in Helicos 2010 Revenues, but Add’l Funds Needed to Stay Afloat: http://bit.ly/eFhMTj
• GLR Post: Weekly Roundup: Science Funding, DTC and Medical Device Caucusing http://bit.ly/ih9Fod
• GLR Post: A Spectator’s Guide to Monday’s Oral Argument in Myriad Gene Patent Litigation: http://bit.ly/eqbjz9
• Mayo petitions Supreme Court for cert (again): http://bit.ly/gizf6T After most recent ruling (http://bit.ly/gvBOVx) a grant seems unlikely.
• House version of Patent Reform Act closely tracks Senate’s, with a few key exceptions: http://bit.ly/eQNHN0 by @patentlyo

A New Padilla Proposal. The California proposal comes from state Senator Alex Padilla. If Padilla’s name sounds familiar, it is likely because he is the same Senator Padilla who introduced a widely discussed “bioinformatics bill” to the California legislature two years ago. That bill (S.B. 482) was drafted with the close participation of direct-to-consumer (DTC) genetic testing company 23andMe, and 23andMe and Senator Padilla later co-sponsored a policy forum in San Francisco on “genomics and the consumer” (at which I presented).

Unlike Padilla’s earlier effort, which would have significantly altered the regulatory environment for so-called “post-CLIA bioinformatics services” (basically, genetic interpretation performed after the generation of genetic genotype or sequence data in a CLIA environment), 2011’s effort (S.B. 559 (pdf)) will almost certainly be viewed as a much less controversial proposal.

Genetic Information and Civil Rights. The primary purpose of S.B. 559 is to “expand the bases upon which discrimination is prohibited” under California law to include genetic information.

The act opens with numerous legislative findings detailing both the promise of genetic testing and related technologies, including genomic sequencing, as well as California’s “shameful” history of involuntary sterilization and race-based genetic discrimination. As a result, according to S.B. 559, California has a “compelling public interest in” both “realizing the medical promise of genetics” and “relieving the fear of discrimination and in prohibiting its actual practice.”

In light of the act’s purpose, the substantive provisions of S.B. 559 will come as no surprise. The two major changes are to the Unruh Civil Rights Act (California Civil Code §51 et seq.) and the Fair Employment and Housing Act (California Government Code §12900 et seq.). Both would be amended to include “genetic information” as an impermissible basis of discrimination, alongside sex, race, color, religion and a number of other specified bases. Appropriately, the definition of “genetic information” to be used closely tracks the language found in §201 of the Genetic Information Nondiscrimination Act of 2008 (GINA).

While Senator Padilla’s announcement declares that S.B. 559 would expand the protection of genetic information under California law beyond GINA’s provisions, to prohibit discrimination based on genetic information “in the areas of housing, employment, education, public accommodations, health insurance coverage, life insurance coverage, mortgage lending and elections,” the reality is that use of genetic information in several of these areas is already prohibited or substantially restricted. (See, for example, §10140 et seq. of the California Insurance Code for disability and life insurance).

Unlike Vermont’s proposed H.368 and Massachusetts’ Genetic Bill of Rights, which represent more significant departures from the status quo when it comes to the regulation of genetic information, California’s S.B. 559 would not break any new conceptual legislative ground. Rather, it would continue the ongoing and important process, begun by many states (including California) and advanced significantly by GINA, of placing genetic information on a par with other prohibited bases of discrimination.

Looking Beyond “Genetic Legislation.” Having looked at the recent proposals in Massachusetts, Vermont and California, is it fair to say, as both the Council for Responsible Genetics and Forum on Genetic Equity have, that there is a “groundswell for genetic privacy building in states”?

Before we answer that question, a few key points of clarification. First, these are legislative proposals, not enacted state law. As we saw with GINA, which took 13 years of Congressional debate before it was finally passed, shepherding a legislative proposal through the political process and turning into the law of the land is rarely as simple or quick as its sponsors might hope.

Second, and more importantly, not every piece of “genetic legislation” shares the same aims or would produce the same effects. While not identical, it is true that the legislative proposals in Vermont and Massachusetts appear to reflect a shared vision of granting individuals clear property rights in their genetic information and bolstering privacy protections for that information.

The California proposal, on the other hand, actually shares fairly little in common with Vermont and Massachusetts; at least once you look beyond the fact that it is a proposal for “genetic legislation.” S.B. 559 declares its purpose to be “relieving the fear of genetic discrimination and….prohibiting its actual practice.” That’s clearly an important goal, but it is just as clearly substantively distinct from articulating new genetic property rights or seeking out greater privacy protections for genetic information. (However, as reported by Pharmacogenomics Reporter, sponsors of the California proposal are considering expanding its scope to potentially address issues such as genetic property rights.)

So is a “groundswell” building at the state level? Perhaps, although when it comes to the specific issue of genetic privacy, we’re not sure that a pair of state legislative proposals (Massachusetts and Vermont) qualifies as a groundswell. We’ll need to see more state proposals – and at least some legislative adoption – before declaring that a meaningful change in the genetic privacy landscape is taking place. After all, as both the National Conference of State Legislatures and the Council for Responsible Genetics have demonstrated, most states have at least some laws on the books pertaining to genetic privacy. The extent of these laws, including the degree to which they are enforced, varies considerably, but it is not as if the issue of genetic privacy has never before been considered by the states.

What is clear is that, at both the federal and state level, legislators and regulators are continuing to grapple with how to handle the proliferation of personal genetic information. It remains to be seen whether these most recent legislative proposals – in Massachusetts and Vermont, and to a lesser extent California – represent the arrival of a new legislative approach grounded in privacy protection and individual rights to genetic information or whether they are only the latest word in a much broader conversation that has only just begun.

What should we make of this three state “groundswell?” Although not identical in scope or substance to the Massachusetts Genetic Bill of Rights (“MA GBR”), both the Vermont and California proposals appear to reflect a concern (shared by the MA GBR) that, at least when it comes to the use and misuse of genetic information, the current system of federal oversight is inadequate. Then again, as the legislative findings section of the California proposal (pdf) puts it, perhaps “the current explosion in the science of genetics” simply “compels legislative action in this area.”

Today we’ll dig into Vermont’s proposed H.368: “An act relating to privacy of genetic information” (pdf) (the “Vermont Act”). Next week, we’ll tackle California.

The Value of a Genome. In many respects the Vermont Act closely resembles the MA GBR we covered in detail last month and shares its emphasis on genetic information as a personal property right.

Nowhere is this clearer than where, matching the MA GBR word-for-word, the Vermont Act proposes the insertion of a new provision into Vermont’s existing genetic testing statute, declaring “genetic information the exclusive property of the individual from whom the information is obtained.” 18 V.S.A §9330 The Vermont Act goes on to confer upon genetic material the status of “ real¹ property subject to one’s individual control and dominion in accordance with generally held precepts of property law in Vermont.” 18 V.S.A. §9336(a)

After codifying property rights in genetic information, the Vermont Act, just like the MA GBR, goes on to require that any individual engaged in genetic research or commerce be “made aware both orally and in writing that his or her donation is a commodity and is of some material value.” And if the transaction of genetic information occurs in a for-profit context, the individual would be entitled to “compensation at fair market value.” 18 V.S.A. §9336(c) To be sure, we’re still no closer to articulating a valuation method for genetic information than when the idea was first proposed in Massachusetts earlier this year.

Ambition vs. Reality. There are also a few areas where, in its zeal to protect individual genetic rights, the Vermont Act goes a step too far and appears to conflict with federal law, with potentially problematic (or at least confusing) results.

For example, the addition of 18 V.S.A. §9336(d) would provide that:

Any report or record produced by or stored at a hospital; dispensary; laboratory; hospital-affiliated registry; physician; commercial genetic testing company, agency, or association; or insurance institution or its representative pertaining to any genetic information is the exclusive property of the individual sampled or analyzed. Such report or record shall not be considered to be a public record, and the contents thereof shall not be divulged by any person having charge of or access to the report or record without informed written consent… (emphasis added)

While there are three minor exceptions to §9336(d), none would save the provision from a nasty conflict, at least on its face, with other federal laws, including the Health Insurance Portability and Accountability Act (HIPAA).

Under HIPAA, covered entities (including healthcare providers, such as hospitals and physicians) and their business associates are not required to obtain prior consent for certain uses and disclosures (e.g., for treatment, payment and health care operations) of protected health information, including genetic information. The prior consent requirement was removed under HIPAA in certain instances due to its unintended effect of preventing “timely, quality health care to individuals in a variety of circumstances.” The Vermont Act’s supporters should take another look to ensure that §9336(d) would not produce the same unintended effect under Vermont law.

Next is §9336(e), an even broader and more confusing provision:

Information derived from the sequence of the human genome shall be part of the public domain and shall not be considered the property of any individual. Nothing in this chapter shall be construed to grant an ownership right to any individual or entity utilizing the publicly held information from the sequence of the human genome in the furtherance of the creation of a venture or enterprise, including any genetic goods, products, or services.

At first blush, this appears to be more of a statement of policy by the Vermont Act’s sponsors than a statement of law. §9336(e) refers to “the sequence of the human genome,” not a sequence of a human’s genome, and the term “genome” does not appear in the Vermont Act (or in Chapter 217 of the V.S.A.) outside of this single proposed provision.

While efforts to place genomic information in the public domain – including the work of Genomes Unzipped, the Personal Genome Project, SNPedia and The Sage Commons, to cite several such public genomics projects in which we are actively involved – are laudable, mandatory public genomics is not exactly the provenance of the Vermont state legislature.

Or perhaps this is just Representatives Pearson and Wizowaty’s way of asserting their support for the plaintiffs in the ongoing Myriad gene patent litigation by asserting, more than a decade after the fact, that none of the Human Genome Project’s fruits shall be patentable. (Although here, too, Vermont would be treading far outside the scope of its legislative authority.) Either way, this is one provision of the Vermont Act that will need to be either clarified or axed before passage.

Consumer Protection. The Vermont Act comes back to earth, and in line with the MA GBR, in proposing the addition of 18 V.S.A. §9339 and §9340, which together restrict the use of genetic information in marketing and instruct the “consumer protection unit in the office of the attorney” to “investigate and prosecute complaints relating to genetic goods, products, and services.”

As we have argued in the past, when it comes to the burgeoning field of genetic and genomic commerce, one logical and welcome form of regulation would be increased oversight from consumer protection agencies, including both state-level enforcement, as proposed by the Vermont Act, and increased national-level oversight from agencies like the Federal Trade Commission (FTC). (While the possibility of FTC oversight for genomic commerce was back in the news last week, specifically in conjunction with the FDA’s public meeting to discuss direct-to-consumer genetic testing, there are also numerous other areas of genomic commerce that might benefit from increased oversight from consumer protection agencies.)

§9339 also explicitly prohibits “genetic profiling,” which includes any effort to link an individual’s “demographic information” to her “genetic information or genetic material for marketing purposes.” However, the provision would not prohibit marketing on the basis of genetic data if those data were aggregated, did not contain identifying information and could not be used, “directly or indirectly, to obtain identifying information.” That would seem to be a fairly broad safer harbor for would-be “genetic profilers,” but given the inherent difficulty in ensuring that seemingly de-identified genetic information, even when aggregated, won’t be re-identified, this marketing safe harbor might prove to be rather limited in practice.

GINA’s Gaps, Again. As we noted in examining the MA GBR, the Genetic Information Nondiscrimination Act of 2008 (GINA) contains several gaps in its prohibition of insurance discrimination. Notably, while prohibiting healthcare insurers and employers from discriminating on the basis of genetic information, GINA does not address the use of genetic information in long-term care, life or disability insurance.

Even prior to GINA’s passage, Vermont was one of a handful of states with relatively robust statutory protections against genetic discrimination in insurance. Under current Vermont law (18 V.S.A. §9334), no insurance policy—including long-term care, life and disability insurance policies—may be “underwritten or conditioned on the basis of” a required genetic test of an individual insured or the results of a genetic test of any member of the individual’s family. §9332, however, currently permits insurers to require genetic testing in situations where doing so would not violate §9334.

The Vermont Act would revise §9332 to prevent insurers from requiring genetic testing in any setting, regardless of whether it would violate §9334. In combination with §9332(d), the Vermont Act would prevent any insurer from soliciting genetic testing without first obtaining “prior written authorization and informed consent,” including providing a warning that the results of such test might become part of the individual’s permanent medical record or materially impair the availability of insurance benefits. The Vermont Act would not, however, deny such solicitations by insurers outright.

The Vermont Act would also prohibit places of public accommodation (9 V.S.A. §4502) and financial institutions supplying credit (8 V.S.A. §10403) from discriminating on the basis of genetic information.

What does it mean? As with the MA GBR, it is crucial to emphasize that the Vermont Act is a legislative proposal and not current state law. We do not know what level of support the Vermont Act enjoys within the state legislature but, should it pass, the implications—both good and bad—would be substantially similar to those we discussed in our review of the MA GBR.

Next week we’ll examine another legislative proposal, from California, and ask whether these recent developments represent a groundswell of support for more robust genetic privacy legislation.

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¹ The text of the Vermont Act says “real property,” although this would seem to be a clear mistake as real property or real estate refers to land and not to personal or intangible property.

Taken as a whole, the legislation, if enacted, would confer upon Massachusetts residents a significantly expanded set of genetic rights than exist under current federal law. Below we examine several of the bill’s most noteworthy proposals.

The MA GBR addresses perceived gaps and limitations in the coverage provided by major federal statutes, including the Health Insurance Portability and Accountability Act of 1996 (HIPAA) and the Genetic Information Nondiscrimination Act of 2008 (GINA), and the Constitution of the Commonwealth of Massachusetts, by seeking to place genetic information on a par with medical records.

The MA GBR’s provisions set basic limitations on the use, including the commercial use, of personal genetic information that would go above and beyond the user agreements and privacy policies employed by some commercial services. For example, the MA GBR prohibits the use of genetic information for marketing or determining credit worthiness. With the proliferation of genetic information, particularly in consumer or commercial contexts, such basic limitations would help address concerns about the lack of mandatory restrictions regarding the sale, transfer or other use of personal genetic data.

The Personal Property Theory of Personal Genomes. But the MA GBR goes much further than mere consumer protection reforms. Section 1 of the proposed legislation explicitly declares genetic information to be “the exclusive property of the individual from whom the information is obtained.” (emphasis added)

Granting individuals express property rights in their genetic information would be significant. Not only does the MA GBR contemplate genetic information being controlled from the grave – individuals may bequeath to a surviving spouse or family member authorization to use their genetic information under the terms and conditions of their will – but the MA GBR also recognizes the inherent monetary value of genetic information. For example, the proposed bill would require that, prior to entering into a contract to share one’s personal health information, genetic material or genetic information, the individual must be notified, orally and in writing, that “their donation is a commodity and is of some material value.” (Section 1(b)) Further, if the collecting entity has a possible future intent to commercialize the genetic information, the individual donor “must be made aware and compensated at a fair market value.” (Section 1(b))

Supporting these and other MA GBR restrictions on the use of genetic information are the bill’s proposed civil and criminal penalty provisions, which are likely to generate considerable discussion as the bill works its way through the legislature. On the civil side, violations of the MA GBR are automatically violations of the state’s unfair or deceptive practices act (Chapter 93A Section 2), and violators additionally are subject to statutory damages of $5,000 ($100,000 if the MA GBR violation resulted in profit or monetary gain to the violator). The bill provides for both a private and public right of action, and it carves out only limited exceptions for violations by members of law enforcement, employees of the state DNA database, and those working under judicial order. On the criminal side, Section 16 of the MA GBR amends the Commonwealth’s Identity Theft Law (Chapter 266 Section 37E) to add genetic information to the list of “personal identifying information” protected from identity thieves. The identity theft law currently defines “personal identifying information” to include, among others, a person’s social security number, mother’s maiden name, financial account numbers and computer passwords. If the MA GBR is passed, those found guilty of identity theft stemming from the misappropriation of genetic information could face maximum fines of $5,000 and imprisonment for two-and-one-half years.

While individual citizens may have little chance of detecting or deterring larger entities from illicitly obtaining or using genetic information, the MA GBR provides at least the possibility of government action in the face of such violations. The civil and criminal penalties provided by the MA GBR, if enacted, would offer one of the strongest set of protections yet against surreptitious genetic testing.

The Next Generation of GINA? The MA GBR also seeks to expand upon the protections afforded by the Genetic Information Nondiscrimination Act of 2008 (GINA). GINA comes in two parts and prohibits genetic discrimination by healthcare insurance providers (Title I) and employers (Title II).

Despite its broad protections, which are still being implemented, GINA has several widely recognized gaps. Most notably, Title I of GINA does not proscribe genetic discrimination in the areas of long-term care, life or disability insurance.

The MA GBR seeks to expand on Massachusetts’ already broad protections against the use of genetic information by insurers while plugging some of the gaps left by GINA. Section 2 strikes language in Massachusetts law that currently allows insurers to use genetic information submitted on an insurance application to set terms for the applicant’s disability or long term care insurance policy. (See Chapter 175, Section 108I(c)) Section 3 similarly addresses life insurance. (See Chapter 175, Section 120E) Section 4 addresses auto insurance. Taken as a whole these provisions would significantly revise current Massachusetts insurance law and create what would appear to be, at least with respect to the use of genetic information, the most insured-friendly climate in the entire country.

It should come as no surprise that Massachusetts, of all states, would have an interest in addressing the gaps in GINA’s coverage. The widely-publicized Risk Evaluation and Education for Alzheimer’s Disease (REVEAL) study, led by researchers at the Boston University School of Medicine, has for years published data suggesting that genetic information (in this case genes associated with Alzheimer’s susceptibility) can have a material effect on an individual’s decision to purchase long-term care or life insurance. Though such a genetic test is not currently common, or thought to be commonly requested or utilized by insurers in determining coverage or setting rates, Massachusetts residents and lawmakers are clearly aware of the issue and the potential consequences of GINA’s limitations.

A Bill of Rights or a Barrier to Progress? The merits of the MA GBR will be heavily debated on Beacon Hill over the course of the coming months. Turna Ray of Pharmacogenomics Reporter noted last week that, as of early February, the bill had the support of six Massachusetts state senators and 13 state representatives. Despite speculation that private interests, particularly insurers, might seek to block the bill’s passage – or at least scale back its protections – Steve May, the executive director of the Forum on Genetic Equity, the advocacy group which crafted the bill, is confident that the MA GBR will pass.

Whether the MA GBR passes in its current form, or indeed whether it passes at all, one fact is inescapable – the MA GBR’s efficacy will be inherently limited by geography. And that geographic limitation could also produce unintended effects on personalized medicine innovation, both within Massachusetts and more broadly.

While the MA GBR would provide an unprecedented degree of security and control to Massachusetts’ residents and their genetic data, has it struck the proper balance against other considerations? For example, while the bill carves out minor exceptions for law enforcement, employees of the state DNA database and those acting upon judicial orders, those safe harbors are probably not broad enough to protect all legitimate scientific and research activities. Further, such a dramatic increase in the proscribed uses of genetic data, and in the restrictions and costs imposed even on lawful uses, could well erect unintended barriers to the type of innovative genetic research conducted at numerous Massachusetts institutions – both non-profit and for-profit. For example, would the added compliance and compensatory costs of the MA GBR (just what is the fair market value of an individual’s genome these days anyhow?) discourage academic or commercial users of genetic data from seeking out or even accepting Massachusetts residents?

This is a delicate line to walk. On the one hand, thanks to a decade of progress since the first human genome was sequenced, widespread personalized genetic data is not only possible – something we could not say as recently as a few years ago – it is more meaningful and, yes, more valuable than ever before. On the other hand, as we are frequently reminded, we have a long way to go in our understanding of human genomics, including how to use personal genetic data to bring about truly meaningful improvements in our health and quality of life.

In addition to the myriad scientific and technological challenges which must be overcome, for the next decade of human genomics to be a successful one, law and policy makers must work with the public to balance individual rights against societal interests. The push to create strong individual rights in genetic data, and to couple those rights with robust privacy protections, must also acknowledge the vital importance of broadly collecting and sharing genetic and other health data in research, clinical and commercial settings. The trick will be to design systems strong enough to prevent abuse but flexible enough to promote innovation and adapt to not only changing scientific, medical and commercial practices but also to evolving social attitudes around genetic data.

While it is clear that change in our legal and regulatory structures is needed, it is not clear if the MA GBR represents the right sort of change. On the one hand, as the Forum on Genetic Equity’s press release (pdf) and the legislation’s name itself declares, the Genetic Bill of Rights may represent fundamental and needed change that will pave the way for sweeping federal changes. On the other, and just like the New York bill we discussed last month, the bill may be an overly protectionist “legislative band-aid” that would grant excessive genetic rights and privacy protections to a minority of individuals at the expense of more meaningful commercial, scientific and clinical innovation.

Just as important as the potential effect of the Massachusetts legislation on Massachusetts residents and researchers is its effect on the ongoing national conversation about these issues. Certainly, legislation that takes effect in Massachusetts would have an outsized effect on biomedical research, investment and innovation, given the prominence of Massachusetts in these areas. But ultimately a patchwork of state regulations cannot be the answer. Whatever the balance to be struck between individual genetic rights and privacy and the needs of genomic research, medicine and commerce, this is an issue that is by its very nature national – and even global – in scope.

Credit the Forum on Genetic Equity and its Beacon Hill supporters for aggressively pursuing these issues, and continuing to push the dialogue forward. Ultimately, however, for the next decade of genomics to be anywhere near as successful as the previous one, meaningful regulation will require much more than the MA GBR, or similar state-level efforts. It will require a major and coordinated national and international effort to replace our current patchwork scheme with one that protects personal genomic data while providing the clarity and flexibility researchers, clinicians and companies need to unlock the potential of those data.

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.

As is the case with any piece of new legislation, even after a law is passed, considerable work remains to implement that law in practice. GINA is no different. Congress provided a basic framework designed to eliminate genetic discrimination, but many of the details of the law were left to regulatory agencies.

Two and a half years after GINA’s passage, the first part of that process is still underway. Last month the EEOC issued final rules and regulations implementing Title II of Gina, which applies to employers. (Final regulations for Title I of GINA, which applies to health insurers, have yet to be issued.) With the long-awaited arrival of the EEOC’s final regulations, the next step is to begin to apply those regulations.

MLB’s Genetic Testing Program. In July of 2009 The New York Times reported that Major League Baseball (MLB) had begun using genetic testing to verify the age and identity of Latin American baseball prospects. We analyzed MLB’s genetic testing program and the potential legal concerns raised by GINA in a pair of posts: “MLB Meets GINA” and “MLB’s Genetic Testing Program at the Plate Again.”

While we acknowledged the legitimate interest of MLB and other employers in conducting identity verification testing, we concluded that the MLB genetic testing program edged perilously close to prohibited territory under GINA and and its legality would depend, ultimately, on how the EEOC chose to interpret GINA’s provisions.

In light of GINA and other concerns, MLB reviewed its age and identity verification policies for Latin American baseball players. According to The New York Times, MLB considered switching to fingerprinting as a means of identity verification and even briefly halted the use of genetic testing. As the second Times article reports, however, as of October, MLB was once again utilizing genetic testing for identity verification purposes, although MLB now receives “…only the [genetic test] results in regard to identity—not delicate genetic information.”

After the EEOC Speaks, a Second Look at MLB’s Genetic Testing. Our earlier analyses of MLB’s genetic testing program were based on our attempt to apply the text of GINA as passed by Congress (pdf). The publication of the EEOC’s final regulations (pdf) provides an occasion to re-examine the legality of the genetic testing program under GINA, this time with additional guidance as to how the applicable regulatory agency interprets the law.

On its face, GINA appears to bar employers from requesting or using any genetic information pertaining to current or prospective employees (§ 202), with only a handful of narrow exceptions (§ 202(b)(1)-(6)), none of which appeared applicable to MLB. Still, at least one commentator argued that genetic testing to confirm identity would be consistent with the express purpose of GINA (pdf). That analysis depends in large part on a narrow reading of the terms “genetic information” and “genetic test.” We found it unlikely that the EEOC would adopt such a narrow view of GINA’s protections, but admitted that there was sufficient ambiguity in GINA’s text that we would need to wait to see what the agency actually said.

The verdict is now in, and it does not appear promising for Major League Baseball. The EEOC regulations clarify the meaning of both “genetic information” (29 CFR § 1635.3(c)) and “genetic test” (29 CFR § 1635.3(d)). While the definition of “genetic information” largely tracks the statute, and specifically includes any information about an individual’s genetic tests, the definition of “genetic test” in the EEOC’s regulations is set out with far more specificity than in GINA’s text.

Most significantly, a “genetic test” includes (but is not limited to):

(vii) DNA testing to detect genetic markers that are associated with information about ancestry; and (viii) DNA testing that reveals family relationships, such as paternity.

While the precise nature of the genetic testing performed by MLB is not known, it is highly likely that a genetic test for purposes of identification would fall into one or both of the categories listed above. By more specifically defining “genetic test,” the EEOC has addressed a key statutory ambiguity and substantially weakened the argument that the type of genetic testing conducted by MLB is not covered by GINA.

Is MLB’s Genetic Testing Program Illegal? Without knowing much more about the program, including the nature of the testing and how and where it takes place, it is impossible to give a definitive answer. Nevertheless, it appears that under the EEOC’s interpretation of GINA, substantial questions about the legality of genetic testing for identification, whether by MLB or other employers, remain to be answered.

Unless MLB changes its genetic testing policy yet again, the next step will be to see whether any individuals subject to the policy attempt to challenge it under GINA and, if so, how the EEOC and MLB respond. Unfortunately for the GLR and its readers, much or all of this activity is likely to take place initially outside of public view (although that could change if a dispute were to move through the EEOC and reach the courts).

Editor’s Note: With the holiday season upon us, the Genomics Law Report will be going on hiatus for the remainder of 2010. Happy reading, happy holidays, see you in 2011.

The first is primarily a curiosity: the allegation that Chinese authorities are spying on deCode Genetics, Iceland’s most prominent genetic research company and provider of the direct-to-consumer genetic testing service, deCODEme. Nobody seems to know exactly what China is looking to gain by clandestinely exploring Iceland’s genetic genealogy. You are welcome to speculate in the comments.

The second raises broader issues: the revelation that the State Department’s ongoing human intelligence collection directives include requests for “biometric information” on key world leaders, including United Nations arms inspectors, the Director General of the World Health Organization (WHO) and key advisors and aides to United Nations Secretary General Ban Ki-moon. A separate cable detailing intelligence collection priorities in Africa’s Great Lakes region clarifies that “biometric information” includes “health [data]…fingerprints, facial images, DNA, and iris scans.”

Not disclosed in the WikiLeaked cables: why the State Department wants the biometric data or whether any have been successfully obtained.

Surreptitious Testing: An Overview. The cables are, however, a reminder that the law surrounding the surreptitious collection and testing of biometric data, including DNA, remains extremely murky.

While the extent to which surreptitious testing is performed in diplomatic and intelligence contexts is not publicly known, such testing is commonplace in law enforcement settings. For example, police routinely collect and analyze “abandoned DNA” during forensic investigations. Indeed, one of the primary indices of the FBI-run Combined DNA Index System (CODIS) is the Forensic Index. The Forensic Index is comprised of DNA profiles constructed from biological specimens from unidentified individuals collected at crime scenes. These DNA profiles are then compared against similar offender and arrestee indices, which are also housed in CODIS, to aid in law enforcement efforts. Several high-profile criminal investigations, including the recent arrest of the “Grim Sleeper” serial killer, have been aided by this technique.

Concerns about surreptitious sampling and testing have also appeared in other contexts. During this past summer’s Congressional hearing on direct-to-consumer (DTC) genetic testing, the Government Accountability Office (GAO) presented results from a series of undercover encounters with DTC companies. One recording appeared to show a company (later identified as Pathway Genomics) encouraging a prospective customer to collect and send in a saliva sample from her fiancé without his consent, in order to surprise him with results of a genetic test.

In 2009, New Scientist reporters Peter Aldhous and Michael Reilly used similar tactics to demonstrate that it was possible to obtain genetic information about someone without that individual’s consent and detailed their experiences in a special investigation: how my genome was hacked.

Shortly after the 2008 presidential election, an article appearing in The New England Journal of Medicine (NEJM) considered the possibility that, by the time the 2012 election rolls around, presidential candidates might be at significant risk of surreptitious genetic testing. The authors worried that “persons or groups opposing a candidate [and] hoping to harm his or her chances for election” would obtain and release genetic information without consent, a form of “genetic McCarthyism.” This would not be very difficult, the authors concluded, since “sufficient DNA for amplification and analysis can be obtained from loose hairs, coffee cups, discarded utensils, or even a handshake.” The WikiLeaks revelations about State Department officials seeking biometric information on world leaders indicate that the NEJM speculation may already be reality on the world stage.

There are numerous other scenarios in which surreptitious genetic testing might be employed to acquire information about less famous but equally unwitting individuals, including to establish paternity or to evaluate a potential romantic partner.

Legal Uncertainty Surrounds Surreptitious Testing. To many, it seems like “there oughta be a law” against surreptitious genetic testing, at least in certain settings. However, as reported last year by the Genetics & Public Policy Center, there are “limited legal safeguards against surreptitious DNA testing or its potential consequences for those subject to nonconsensual testing.”

While the 2008 passage of the Genetic Information Nondiscrimination Act (GINA) prohibits the unauthorized acquisition or use of genetic information in certain contexts (health insurance and employment), it offers only limited protection against surreptitious testing. For instance, while it covers most of the Federal government, including the State Department, GINA does not apply to the military or the VA. It also does not restrict behavior outside of the insurance and employment contexts including, for example, by political adversaries or their supporters during a presidential campaign. (Interestingly, the NEJM article declined to advocate for “laws that would make it a federal crime to sequence a candidate’s DNA without consent,” preferring voluntary restraints and education instead.)

Other Federal statutes, such as the Health Insurance Portability and Accountability Act (HIPAA) may offer protection under certain scenarios (e.g., the use and disclosure of genetic information by covered entities, predominantly health plans and healthcare providers) but, again, fall short of providing a complete and clear prohibition on surreptitious genetic testing.

The 2008 GPPC report also looked at state law to evaluate which states proscribe surreptitious DNA testing (pdf). Determining the exact number of states that prohibit this behavior depends heavily on context. Some state statutes prohibit unauthorized acquisition or analysis of genetic information, while others apply only to unauthorized disclosures. Similarly, some state statutes appear to encompass all manner of genetic information, whereas others cover only certain genetic information (e.g., health-related information) or apply only to certain settings (e.g., employment or insurance discrimination). The National Conference of State Legislatures (NCSL) has also compiled data on state genetic privacy laws and, like the GPPC report, the NCSL data indicates considerable variability at the state level.

In the absence of a comprehensive federal law, state prohibitions are currently the main source of relevant law when it comes to restricting surreptitious genetic testing. But not all states have such laws. Whether surreptitious genetic testing is illegal thus typically depends on a combination of who is doing the testing, whom they are testing, what they are testing for, how they are using the results and, most of all, the state or states in which those activities take place.

Finally, there is a possibility that surreptitious genetic sampling and testing may be prohibited on either common law or constitutional grounds, at least in certain situations. For example, in the Texas newborn blood spot litigation, which we covered earlier this year, the plaintiffs alleged both Fourth Amendment (unreasonable search and seizure) and Fourteenth Amendment (right to privacy) violations resulting from the state’s policy of retaining newborn blood spots for ongoing research without explicit parental consent. While both claims survived summary judgment, and may have helped precipitate the litigation’s settlement, these and other legal theories remain untested in most states and under most circumstances.

What We Should Learn From WikiLeaks. Coming full circle, the leaked State Department communiqués raise important questions to which we do not have clear answers. In particular: under what circumstances is the surreptitious collection of biometric data, including genetic data, appropriate?

For most, the answer to that question will depend to some degree on context. Should State Department officials gathering intelligence abroad have a greater or lesser ability to pursue surreptitious genetic testing than domestic law enforcement agents? Should private individuals be permitted to conduct surreptitious genetic testing in certain circumstances (e.g., to confirm paternity) but not others (e.g., when shadowing a politician or celebrity)?

While individual answers may vary, we expect the law to provide us with clear guidelines. As is made clear by the above analysis, however, there exists a wide range of scenarios where surreptitious genetic testing, should it occur, would fall squarely within a legal gray area.

This is in stark contrast to the situation in other countries. In the United Kingdom, for instance, the Human Tissue Act 2004 made it a “criminal offence to take a sample from someone to test their DNA without their consent, except for medical purposes and lawful investigative purposes” as of 2006. Similarly, while Germany’s new Human Genetic Examination Act (also known as the GenDG) is overly restrictive in many respects, § 8(1) of the GenDG (pdf) clearly prohibits “any genetic examination or analysis” without the “express, written consent of the subject person, both in regard to the respective genetic examination and genetic sample.”

Whether the United States adopts the same approach to surreptitious genetic testing or not, the issue must be addressed. We must articulate, much more clearly than at present, the situations in which unconsented genetic testing, analysis and disclosure is permissible, and those in which it is proscribed.

Each year, the availability of low-cost, high-quality genetic information expands. Along with a wide array of legitimate and beneficial uses, the growing accessibility of this genetic information brings with it an increasing number of opportunities to employ and to abuse surreptitious genetic testing. As we continue to push forward into the era of personal genomics, the time has come to seriously discuss a comprehensive legal framework for surreptitious genetic testing.

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.