While it will likely be a year or more before a final regulation takes effect, and there will almost certainly be amendments along the way, American companies – including those involved in the field of personalized medicine, where personal data is paramount by definition – should start paying attention now, since they may have to change the way that they do business in Europe.

We will provide a more detailed analysis of the Draft Regulation at a later date. In the meantime, here are some of the key issues we are examining:

• It is significant that the Commission is acting by Regulation rather than Directive (as was the case with the current privacy law, enacted by Directive in 1995). A regulation is top-down, imposed uniformly throughout the EU, whereas a directive is adopted country-by-country, which gives individual nations the chance to make adjustments.
• The EU is taking a very aggressive approach to jurisdiction, or its authority to regulate—and impose penalties on—U.S. and other foreign companies that do business in Europe. The Draft Regulation would cover all data processing activities (very broadly defined) by non-EU companies that involve offering goods or services to EU data subjects or monitoring their behavior.
• Data subjects (also broadly defined) will have significantly more rights than under current EU law. For example, the company will have the burden of proving that every subject has given consent for the processing of their data for specified purposes. Consent is defined as “any freely given specific, informed and explicit [emphasis added] indication of will,” and can be withdrawn at any time. The subject will also have a controversial “right to be forgotten and to erasure.” This means that when the subject withdraws consent or “the data are no longer necessary” for the purposes for which they were collected, the company must render the data inaccessible, including on the Internet.
• Along with data pertaining to race or ethnic origin, political opinions, religion or beliefs and trade-union membership, the Draft Regulation identifies “genetic data” as category of personal data designated for special protection. (The Draft Regulation defines “genetic data” broadly to include “all data, of whatever type, concerning the characteristics of an individual that are inherited or acquired during early prenatal development,” thus presumptively sweeping in all genetic information as well as family medical histories and other related health information.) Special protections include impact assessment and prior authorization of data processing operations, and activities lacking sufficient identification or mitigation of risks to individuals may be prohibited.

These are just a few of the more important features of the 96-page, 91-Article Regulation.

Elsewhere, the Draft Regulation would create other new rights and responsibilities and reaffirm and/or strengthen many provisions of existing law, including the current restrictions on transferring data outside of the EU. Ironically, the Draft Regulation notes that the “practical challenges to enforcing data protection legislation” across boundaries and the “risk of different levels of protection…creat[ing] restrictions on cross-border flows of personal data” between jurisdictions. While the Draft Regulation may ease some of these concerns within the EU, global companies seeking to move personal data in and out of the EU face a different calculus.

The draft must now be reviewed by several Directorates of the EU Commission before being submitted for review and approval by the Parliament and Council. But while full implementation will take some time—more than a year in most estimates—the proposed changes are so dramatic and far-reaching that U.S. companies doing business in Europe will require at least that much lead time to plan their compliance.

Patent Reform Legislation Passes House. Several months after the U.S. Senate passed patent reform legislation that would make sweeping changes to America’ patent system, including a switch from a first-to-invent to a first-to-file system for awarding patents, the U.S. House of Representatives finally followed suit yesterday, passing a similar piece of legislation by a vote of 304-117. The version passed by the House, while similar to that passed by the Senate, contained a number of last-minute amendments (pdf).

One change of particular relevance to the personalized medicine community was the removal of a proposed safe harbor for second opinion genetic diagnostic testing, which was replaced by a requirement that the U.S. Patent and Trademark Office (USPTO) investigate the relationship between genetic diagnostic tests, gene patents and exclusive licenses. The USPTO would be given nine months to complete its investigation and to return to Congress recommendations for ensuring the availability of second opinion genetic diagnostic testing. (The USPTO study on genetic diagnostic testing was not included in the bill passed by the Senate in March.)

With both the House and the Senate having now passed patent reform legislation, the next step appears to be a House-Senate conference to resolve inconsistent provisions in the two bills, although according to The Hill it is unclear how soon such a conference will take place.

UK Government Pulls Plug on Human Provenance Project. Nearly two years after the Human Provenance Project was first unveiled (to substantial scientific criticism), the government agency responsible for the project, the UK Border Agency, has finally pulled the plug. The project would have used DNA and isotope analysis of tissues from asylum seekers in an attempt to evaluate their nationality and render immigration decisions. After a wave of criticism following the program′s announcement, and after spending more than $300,000 on screening, the UK Border Agency has scrapped the program in its entirety.

As we wrote back in 2009, the poorly conceived project threatened to disrupt what has been—in both the UK and in the United States—a slow and delicate process to craft legislation, regulation and policies that promote genomic science and the use of personalized genomic data while addressing concerns over the potential misuse of those data. As we wrote then, “with so much genomic science and policy yet to be written, even minor developments produce outsized effects, which makes the potential consequences of the Border Agency’s project so worrisome.”

Thankfully, the UK Border Agency quickly paused the project following initial concerns and, nearly two years later, it appears that no lasting damage has been done. Still, the Human Provenance Project should serve as a reminder to governments worldwide of the need to carefully and publicly vet state-directed personal genomics programs prior to their implementation.

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

• Combined w/ this week’s GenomeQuest announcement (http://bit.ly/kCp0j2) & it’s clear clinical, commercial WGS is here. Now.
• Omicia releases genome annotation software (incl. for clinical/commercial applications) http://bit.ly/l1XpJ6 HT @neandrothal @EricTopol
• FDA report on challenge of monitoring imported food, drugs (http://1.usa.gov/mmWpgd) hints at > difficulty monitoring info-based Dx/devices.
• Study: FDA device clearance times rose 37% since 2006: http://bit.ly/jRxrrV Other news: FDA device studies criticized: http://bit.ly/jGVBH0
• FDA accused of focusing too much on safety (http://bo.st/mCCad9) & of doing too little: http://bit.ly/il4maZ Damned if you do…
• Finally responding to this @genomesunzipped thread. Agree w/ @dkgppc re: need for more data: http://bit.ly/mERhg8 Any ideas how to collect?
• The beat(down) goes on: FDA accused of being a “wet blanket” & “crushing innovation” by MA senator: http://bo.st/kTWrmk
• GLR Post: Prometheus Returns to the Supreme Court, Medical Method Patent Speculation Intensifies: http://bit.ly/kqnDWP
• MT @danielg280: Doing a Webinar 6/21 on legal issues re healthcare & social media w/ @healthblawg http://bit.ly/l2SFvY
• High-level explanation from @wilbanks why for patents, unlike copyrights, transparency is priority #1: http://bit.ly/mRqJAv
• Great idea. MT @RyanMFierce: NC wants to help cash-strapped biotechs w/ $100M in loans http://bit.ly/mau3Gj cc @GlenCaplan
• Still, for efforts like the Human Provenance Project, it can be difficult to unring the bell: http://bit.ly/kRciNK
• $300K too late, but right decision. RT @NatureNews: UK immigration cancels DNA screening programme http://goo.gl/fb/YwQ49
• “The 3 letter word for-the gene FOR something-is the most dangerous word in genetics.” http://bbc.in/mKTY1P HT @eurogene
• MT @matthewherper @ivanoransky @charlesornstein: Despite FDA Criticism, Cancer Drugs Reach Pts Sooner In US Than Europe http://bit.ly/msJTuL
• RT @SampleGW: New Consortium Aims to Streamline Accreditation, Proficiency Testing: http://bit.ly/lBJBLD
• Let’s just hope we do better than MSWord. RT @FierceHealth: Patient rights, safety at heart of #EHR track changes debate http://htl.li/5jkIR
• RT @SampleGW: Medicare to Cover Pathwork Diagnostics’ Tissue of Origin IVD Nationwide: http://bit.ly/kIIOmW
• Well said, @23andMe: “research is a two-way process, where participants are valued as partners in sci. discovery.” http://bit.ly/lgWLrW
• GLR Post: Update: Proposed Second Opinion Safe Harbor for Genetic Diagnostic Testing Withdrawn: http://bit.ly/kOX7qx
• ACLU-led coalition opposes proposed safe harbor for 2nd opinion Dx testing, citing “unintended harms”: http://bit.ly/lJKrqL
• Not only co. to shift focus, at least for moment. MT @RyanMFierce 95% of @Knome revenue from R&D, 5% from customers. http://bit.ly/lFwPow
• House debate on patent reform bill delayed until (at least) next week: http://bit.ly/jtbjY1
• RT @dgmacarthur: New community forum for @CompleteGenomic users: http://bit.ly/kHoys3 Just signed up – interested to see how active it gets.
• GLR Post: DTC Genetic Testing and the FDA: is there an end in sight to the regulatory uncertainty? http://bit.ly/koxrjn
• GLR Post: House Introduces Patent Reform Proposal to Permit 2nd Opinions in Genetic Diagnostic Testing http://bit.ly/j5DeWl
• AdvaMed’s “competitiveness policy” urges creation of “office of medical innovation policy” w/in White House: http://bit.ly/iqXXv9 Good idea.
• “Med-tech CEOs storm Capitol Hill”: http://bit.ly/iBBJNz by @MassDevice Seem unlikely to hear Shuren’s plea for mercy
• Meanwhile, @dgmacarthur @lukejostins & I wonder when DTC regulatory uncertainty might end: http://bit.ly/lxLKda
• CDRH Director Shuren says criticism is affecting hiring, slowing agency: http://bit.ly/maZddr HT @dgmacarthur
• Ion Torrent ($LIFE) expects 400bp reads by year end, $1K genome beginning of ’13: http://bit.ly/kf3tVZ @InSequence
• Update on Noblegen’s “optipore” sequencing tech; targeting clinical seq tests, ’14 debut: http://bit.ly/m55KhH @InSequence
• RT @BVBigelow: BioNanomatrix Moves HQ and nano-scale molecular analysis tech to San Diego’s diagnostics cluster. http://bit.ly/iA2JHx
• RT @RyanMFierce: Broad Institute’s planned expansion roughly the size of two Wal-Mart stores. Wow. http://bit.ly/lCBlsf by @BBJNewsroom
• RT @DailyNewsGW: NIH Awards $200M for New CTSA Sites: http://bit.ly/lO3pdA
• Twin’s rare disease diagnosed, cured. Another “win” for whole-genome seq: http://bit.ly/kuxupr by @Erika_Check HT @drgitlin
• RT @PGxReporter: MDx/PGx Highlights from ASCO 2011: http://bit.ly/mJSwL1
• GLR Post: House Introduces Patent Reform Proposal to Permit 2nd Opinions in Genetic Diagnostic Testing http://bit.ly/j5DeWl
• RT @JohnCFierce: Cancer collaborations are all the rage – but you already knew that. http://bloom.bg/jyuqHA by @robertlangreth
• The “strangest biotech of all” ($UTHR) by @matthewherper, incl a look at its comic book annual report (really): http://onforb.es/lNfZ9w
• RT @dgmacarthur: MT @westr Illumina launching 5M-variant whole-genome genotyping array – the Omni5 – focus on rare variants: bit.ly/ilnaL2
• RT @ldtimmerman: Getting ready for debate on open source bio w/ @sagebio founder Stephen Friend, MIT’s Phil Sharp http://bit.ly/jshQ77
• +1. RT @neandrothal: Chrome extension soon? MT @dgmacarthur: update to handy @SNPTips FireFox plugin for @23andMe data: http://bit.ly/iCDxuP
• The perfect Father’s Day gift? It’s probably not a paternity test: http://bit.ly/iG1QJ9 by @SampleGW
• Here’s more from @23andMe on the breakdown of their database: http://bit.ly/lfldx2 Note that not entire 100K have opted in for research.
• DTC company @23andMe continues to reposition itself, emphasizing reasearch database (now 100K): http://bit.ly/mNnJPF
• Following @phylogenomics for tweets from #synbio5, including current coverage of @geochurch’s talk.
• RT @dgmacarthur: Serious congrats to @markgfh, who won both the European Best Cancer Reporter award & Royal Statistical Society prize today!
• Beginning w/ improved understanding of heterogeneity. RT @FierceBiotech @MaverickNY: changing cancer research paradigm. http://bit.ly/mtJc4y
• RT @JohnCFierce: My take on E&Y’s annual biotech report: It’s tough out there, says Giovannetti http://bit.ly/mm2pN3
• MT @Knome: Today we announce the launch of kGAP 2.0, the 2nd ver. of our #genome interpretation engine http://ow.ly/5hfR7
• RT @genomesunzipped: New Interpretome website provides many handy tools for analysing your @23andMe data: http://bit.ly/lHd2Yw
• RT @LifeSciVC: Welcome my Atlas partner @JFFormela to the Twittersphere. He will undoubtedly have blazing content & sharp wit to add
• RT @westr: 23andMe’s customer breakdown by ethnicity, via @CeCeLMoore http://tinyurl.com/3h5zcv8
• RT @GenCounsNews: Update on advanced degree task force for genetic counselors, including a webinar later this summer http://bit.ly/ilBTHD
• & SEC. Still, can be done. RT @elainewestwick: suspect IP/secrecy concerns a challenge re: Twitter/biotech http://bit.ly/kTWx63 @ldtimmerman
• Brief recap from last week’s MDMA meeting, including familiar FDA criticism from Senator Hatch: http://bit.ly/jwEzdv by @FierceMedDev
• Commons Principles from @Sagebio posted: http://bit.ly/jHEAp2 Ambitious, essential & endorsement-worthy. Add your voice.
• Congrats to @KeonaHealth, Sarda Tech (my dad’s new venture) & others on NC IDEA innovation grants: http://bit.ly/mKsgJd
• Exciting news. RT @neandrothal @NextBio: blog is back w/ a screenshot of upcoming new public site! http://wp.me/pmGXL-e6
• DTC genetic testing company @Lumigenix: “our response to a recent letter from the FDA”: http://bit.ly/lzfL6o
• “I joined GenomeQuest b/c they offer technology to make whole genome dx avail. to patients today-not 10 yrs from now.” http://bit.ly/jR2gVx
• Why Twitter matters for biotech, by @ldtimmerman: http://bit.ly/kTWx63 No surprise, lawyers even slower to adopt Twitter.
• Post by @eurogene on breast feeding, IQ, genetic testing & DTC: http://bit.ly/lGjrDp Comments from @23andMe or @ExistenceG?
• $0.02 from @matthewherper on @patientslikeme tool to match patients to trials using Clinicaltrials.gov: http://onforb.es/m3VmVw
• RT @dgmacarthur: Congrats to @genomesunzipped colleague Don Conrad on his new Nat Genet paper on human mutation rates: http://bit.ly/mhyXgu
• RT @drjonboyg: Raised in this wk’s In Our Time: was germ theory or cracking genetic code biggest leap in human health? http://bit.ly/mkY7p8
• Will need more than 31 senators. RT @NatureNews: NIH finds a few new friends in budget chill http://goo.gl/fb/mfM8O
• RT @westr: “Consumer Genetics Conference Wrap-up – Most Interesting Moments?: http://bit.ly/m5BStq #CGC2011″ -via @wimufi
• MT @mary_carmichael: @dgmacarthur Screenshots don’t do it justice. Key is in use: easy to navigate, cross-ref diff types of content.
• Privacy vs. efficacy driving debate over opt-in or opt-out approach to state EHR systems: http://bit.ly/fD5mF8
• GLR Post: News Roundup: Perception Gaps and Progress in Personalized Medicine: http://bit.ly/kWv9nn
• Company for Shuren? “Health Canada upbraided for inspections of medical devices.” http://bit.ly/l4Kw9e
• RT @BiotechPatent: FDA takes ‘first step’ toward greater regulatory certainty around nanotechnology http://1.usa.gov/jipVTX
• Drugmakers’ Commitment to Personalized Rx Growing Despite Barriers, PhRMA CEO Says: http://bit.ly/jBcQ73 by @PGxReporter
• RT @dgmacarthur: Screenshots of the $ILMN iPad personal genome browser (HT @BioITEditor): http://bit.ly/k06xA9 Surprisingly amateurish.
• RT @genome_gov: Cool 7/18 meeting: Using crowdsourcing for scientific innovation @ NIH’s Natcher auditorium (also webcast) http://qoo.ly/4z7
• FDA ruling on $OREX’s Contravene obesity drug risks driving scarce R&D resources from important field, says @LifeSciVC: http://bit.ly/la5nsi
• RT @cwhogg: Wireless dominates patents for heart, glucose monitors http://tinyurl.com/3ur7jmz
• RT @scotthensley: Curious to see how it’ll work. RT @phrma: Forthcoming @US_FDA Facebook page that will answer ppl’s questions about drugs
• #ASCO11 wrap-up from @ldtimmerman for those (read: all of us) who had difficulty following all of the news: http://bit.ly/kDFaA2

As reported by The Telegraph earlier today, Bin Laden’s identity was confirmed by government officials only after they matched DNA taken from the body in Pakistan with DNA extracted from a preserved tissue sample from Bin Laden’s sister, who died of brain cancer several years ago.  The identification happened rapidly, but, according to Christie Wilcox in a guest post at Scientific American, that’s not all that surprising. Wilcox outlines, step by step, how such an ID could have easily occurred in under 5 hours.

We have covered the use of forensic DNA techniques numerous times here at the GLR, and regular readers know identification through partial or familial DNA matching is not without both social and scientific critics. However, lest there be any doubt, CNN reports that the Obama administration used several methods, including facial recognition and eyewitness corroboration, to positively identify Bin Laden.

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

The Continuing Threat of Decreased Science Funding. At least for the moment, the two houses of Congress appear, finally, to be edging toward a budget compromise that would bridge the $51 billion gap between the House bill (which passed at the beginning of March) and the most recent Senate proposal. That’s a good thing, given that the current continuing resolution is set to expire on April 8.

Nevertheless, it seems increasingly clear that federal science funding is unlikely to increase from its fiscal year 2010 levels, and funding almost certainly will not meet the targets President Obama set in his FY 2012 budget proposal.

The current budgets and proposed funding changes, as set forth in a recent AAAS report on federal R&D (see pages 40 and 42), are as follows:

While overall science funding looks to be in for a rough year, other innovation-boosting legislation appears to be gaining support, at least in the Senate. The Small Business Innovation Research (SBIR) program requires 11 federal agencies with large outside research budgets to award at least 2.5% of this spending to small businesses. The Senate’s bi-partisan SBIR/STTR Reauthorization Act would extend the set-to-expire SBIR program through 2019 and increase the percentage devoted to the program by federal agencies to 3.5% by 2023. This bill would also open the program to small-businesses that are majority-owned by venture capital firms, which were previously excluded because they aren’t independently owned.

This would particularly benefit small biotechnology companies, as many more biotech start-ups rely on venture capital funding than software start-ups (pdf). The Senate bill would allow the NIH and the NSF to award 25% of their SBIR funds to venture-owned small businesses. Not surprisingly, the Biotechnology Industry Organization supports the proposal.

However, even if the Senate is able to pass the SBIR reauthorization bill, there is no guarantee that the House will follow, particularly when it comes to opening up SBIR grants to VC-owned small businesses.

DTC Developments. Despite considerable commercial and regulatory uncertainty, the direct-to-consumer (DTC) genetic testing continues to attract new businesses, at least abroad. Australian-based Lumigenix, which launched its first DTC product earlier this year, was profiled this past week by GenomeWeb. Daniel MacArthur and Michael Müller also drew attention to a new (and pricey) DTC offering from Indian company Avesthagen. In Germany, meanwhile, there is at least one new and satisfied 23andMe customer despite recent German legislation that, at least on its face, appears to ban DTC genetic testing entirely. This is a helpful reminder that legislation—even proscription—is only as effective as its enforcement.

Finally, back in the United States, the debate over how to properly regulate DTC genetic tests is set to continue with the FDA announcing this week that it is reopening the docket from last month’s DTC meeting for additional public comment. With that discussion certain to continue for the foreseeable future it was encouraging, therefore, to see the NHGRI highlight regulation of genetic testing, including DTC genetic testing, as one of its new ELSI (Ethical, Legal and Social Implications) research priorities, even if the NHGRI may find it difficult to supply adequate funding for that research (see above).

Medical Technology Caucus. In a new development that could increase the lobbying power of medical device developers and other personalized medicine companies, Senator Scott Brown (R-MA) has joined forces with Senator Amy Klobuchar (D-MN) to form the bipartisan Senate Medical Technology Caucus.

Both Massachusetts and Minnesota have large medical technology industries and the move has been applauded by industry representatives, including the Medical Device Manufacturers Association. The corresponding House Caucus was formed in 1993 and is chaired by Eric Paulsen (R-MN) and Anna Eshoo (D-CA).

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

• GLR Post: The FDA and DTC: Time to Set the Record Straight: http://bit.ly/fWJBg4 #FDADTC
• #FDADTC docket reopens tomorrow, until 5/2: http://bit.ly/i80OKs Chance to set the record straight: http://bit.ly/f9lWgq
• RT @drjonboyg: Newborn screening programs need better consent rules, experts say http://j.mp/eGfdZm
• The impact of human gene patents on genetic testing in the United Kingdom: http://bit.ly/hBHxui from GiM, HT @eurogene
• RT @pgx_reporter: Q&A: Cancer Commons’ Tenenbaum on Building a Patient-Centric System for Personalized Oncology: http://bit.ly/hvqz8K
• Germany’s strict genetic testing law (http://bit.ly/gXMgkg) didn’t stop this @23andMe customer: http://bit.ly/f0zqdE
• More on SBIR/STTR reauthorization progress in Senate, from @gw_dailyscan: http://bit.ly/fawftu
• RT @bachinsky: DARPA Puts Out Call for a DNA-Embedded Genetic Surveillance Machine http://t.co/C6gijo1
• Interesting profile/update by @Xconomy of patent aggregator/licensor Intellectual Ventures: http://bit.ly/erJBLo
• Taming the dragon: genomic biomarkers to individualize the treatment of cancer http://bit.ly/fNDPzE in Nature Med HT @FierceBiotech
• Good to see NHGRI articulate detailed ELSI research priorities/targets: http://1.usa.gov/fYuiGL Better had it come w/ news of add’l $$$
• Petition: “Congress: Don’t Cut Life-saving Funding for the National Institutes of Health”: http://bit.ly/gw30ST >14K signatures so far.
• MT @JohnCFierce: FDA insider allegedly made $119K on Somaxon insomnia drug approval. At least somebody made $$ on it. http://reut.rs/g6OMHN
• Avesthagen DTC product apparently 1.8M SNPs for 45K Rupees (=~$1K). PR focuses soley on disease. No PGx, carrier screening or ancestry incl?
• RT @dgmacarthur: Personal genomics hits India, via local biotech Avesthagen: http://bit.ly/gzeRgK (via @nutrigenomics) More on this soon…
• FDA chemist charged by SEC with insider trading: http://on.wsj.com/h16lBY via WSJ
• RT @GENbio: Legal Challenges to Healthcare Reform Threaten Biopharmaceutical Legislation http://bit.ly/fT16bt
• MT @daphnezohar: Startupamerica @ MIT FDA session takeaways: reduce duplication of failure by cos (use FDA knowledge), increase transparency
• RT @dgmacarthur: Christine Patch and Barbara Prainsack have their considered take on the #FDADTC meeting at BioNews: http://bit.ly/hggIVk
• RT @ldtimmerman: Cambridge, MA’s Epizyme, riding high on 2 pharma deals, zeroes in on personalized cancer therapy. http://bit.ly/g4Vy6H
• GLR Post: Frustrated by NIH Inaction, Fabry Patients Attempt End Run Around Bayh-Dole: http://bit.ly/hUmGwe
• RT @GenCounsNews: Advanced degree options for genetic counselors being explored by @NSGC_Org taskforce http://bit.ly/efjdAV
• RT @JCainHart: Interesting & timely given some recent similar situations in RTP. “Academic bias & biotech failures” | http://bit.ly/esYQ1D
• RT @matthewherper: Why are there so few biotech billionaires? http://ow.ly/4nW55
• RT @wilbanks: When you share data, you make it more valuable. Here comes the science. http://hdl.handle.net/2027.42/78307
• Update on SBIR reauthorization: http://bit.ly/gyubGx VC’s pushing for access. Another house/senate stalemate looming? cc @JCainHart
• Interesting reading: Humana’s coverage policies for genetic testing (http://bit.ly/iav6X1). No surprise: DTC, WGS generally excluded.
• Been on market since at least Jan. RT @GenomeWeb_News: Australia’s Lumigenix Launches DTC Genomics Offering: http://bit.ly/hQyO4p
• (For those actually using twitter, if you have suggestions for how to improve the GLR’s Twitter Roundup please let me know)
• Twitter Roundup: #FDADTC Edition (& a new format): http://bit.ly/dXQ592 Incl. @genomesunzipped/CC0, patent reform & more
• Friday already? RT @genomesunzipped: ‘Disguised’ heritability, mktg personal genomics, deciphering dev. disorders http://bit.ly/eRHTTl
• RT @InheritedHealth: Genzyme hit with more Fabrazyme drug woes http://ow.ly/4lUVx
• Interesting paper in GiM re: “medical & graduate students’ attitudes towards personal genomics” http://bit.ly/gVuHqp
• Thought RNAi litigation was done after last week’s settlement (http://bit.ly/dRjafg)? Think again: http://bit.ly/gvM5m9
• RT @S_O_NYC Signups for #sonyc are near room limit—if you’re coming, sign up now so we can book a larger room. http://bit.ly/hsNU6q
• RT @daphnezohar: .@ldtimmerman asks VCs: “Are you toast?” and reports that Canaan is still doing ok http://bit.ly/fH7nqi
• RT @GenomeWeb_News: Celera Sued Over Plans to Sell to Quest: http://bit.ly/gg11Bb
• RT @GenomeWeb_News: Bill Seeks to Restore Minnesota Genomics Partnership Funding: http://bit.ly/fWaKHS
• Watch @anderson_carl of @genomesunzipped niftily double my UC risk (but reassure me not to lose any sleep over it): http://bit.ly/dYfwnw

Robert Cook-Deegan contributed to this commentary. Dr. Cook-Deegan is

The past few months have brought a number of significant research and commercial developments in the BRCA diagnostic testing market, particularly in Europe. These developments have been met by enigmatic comments from the management of Myriad Genetics, the sole provider of commercial BRCA diagnostic testing in the United States and a defendant in ongoing and closely-scrutinized gene patent litigation. What can these recent developments tell us about Myriad’s future plans in both Europe and the U.S.?

The Next Generation of BRCA Testing. Myriad’s current BRCA diagnostic test, BRACAnalysis (pdf), uses a combination of two traditional technologies—Sanger sequencing and PCR—to identify mutations associated with a significant risk of breast cancer and/or ovarian cancer in the BRCA1 and BRAC2 genes. Although Myriad has dabbled with next-generation sequencing technologies, Myriad has yet to announce any concrete plans to apply any of the increasingly numerous and powerful next-generation sequencing technologies to its BRACAnalysis testing.

Others, however, are moving rapidly in exactly this direction.

In April 2010, Mary-Claire King and her colleagues at the University of Washington published a paper in PNAS (pdf) that described the massively parallel sequencing of 21 genes, including BRCA1 and BRCA2, but also 19 other genes that, when mutated, confer an increased risk of breast and/or ovarian cancer. They offered their research as “proof of principle for the application of solution capture and next-generation sequencing to mutation detection for patients at high risk of breast cancer.” A next-generation sequencing approach to breast cancer testing, they determined, could successfully detect far more deleterious mutations in far more relevant genes than the Myriad test detects, and could do so at a fraction of the cost of the commercial BRCA testing performed by Myriad in the United States.

Next, in October 2010, Stephen Salzberg and Mihaela Pertea published what they described as a “Do-it-yourself” approach to BRCA diagnostic testing. The Salzberg Screen, as it is known, analyzes previously obtained genomic sequence data (e.g., from whole-exome or full-genome sequence data, which is commercially available) for BRCA mutations by querying publicly available resources. Salzberg and Pertea freely acknowledged that a primary motivation in supplying the Salzberg Screen was “to empower any individual…to test for [BRCA] mutations and circumvent [Myriad’s] gene patents.” In assessing the Salzberg Screen and its impact on Myriad we noted that Salzberg and Pertea were taking a “calculated gamble” in this regard. The test separates the crucial steps of sequencing and interpretation, arguably avoiding direct infringement claims for many of Myriad’s broadest patents, although arguments based on inducement of infringement might remain viable. We wrote then that Salzberg and Pertea were likely gambling that Myriad simply lacked the stomach to initiate any additional BRCA-based litigation and, at least so far, their gamble appears to have paid off.

Importantly, the integration of next-generation sequencing data in BRCA testing is not just a subject for medical journals. It is also beginning to find its way into clinical and commercial applications.

This past October, two European research hospitals—Ghent University Hospital in Belgium and the University of Leeds Institute of Molecular medicine in the United Kingdom—announced plans to use next-generation sequencing technology to perform diagnostic sequencing for BCRA1, BRCA2 and other genes. And just this past week, a British company called NewGene announced plans to sequence the entire coding region of BRCA1 and BRCA2 genes for UK patients with a family history of breast cancer.

Both NewGene and the research laboratories intend to utilize so-called next-generation sequencing technology in performing BRCA diagnostic testing. Both New Gene and Ghent University Hospital employ the Roche 454 GS-FLX pyrosequencing platform, while Leeds is proceeding with Illumina’s Genome Analyzer.

Finally, last month, at the Advances in Genome Biology and Technology (AGBT) meeting, GenomeQuest announced a “clinical diagnostics reporting” service for whole-genome sequence data. Like the Salzberg Screen, GenomeQuest utilizes a software-based approach to analyzing already existing whole-genome or whole-exome sequence data. Unlike the Salzberg Screen, however, GenomeQuest’s product is explicitly commercial and intended for clinical diagnostics, including hereditary breast cancer.

A common motivation in each case is a desire to reduce the cost of diagnostic testing, and particularly of BRCA testing. The cost of Myriad’s BRACAnalysis test in the United States varies somewhat by payer but is generally in the $3,000 to $4,000 range (Myriad actually raised the cost of its test by several hundred dollars after last spring’s district court ruling invalidating a number of its key BRCA patents), with the possibility of significant additional costs where follow-up testing is needed.

The expectation among Myriad’s competitors, including commercial offerings from NewGene and GenomeQuest, is that next-generation sequencing can significantly reduce cost (as well as turnaround time) while maintaining or even increasing the accuracy and degree of coverage. NewGene, for example, has reported a median test cost of under $1,000. Similarly, GenomeQuest has touted the ability of its product to “perform every known genetic test in the GeneTests compendium in one single protocol that costs about as much as a single genetic test,” echoing a point we (and plenty of others) have been making for years: there is a fundamental tension between the falling cost of whole-genome sequencing and the continuing high cost of single-gene diagnostic tests.

Is a Commercial Confrontation Brewing? Not all of the recent developments in BRCA testing represent a near-term, or even a long-term, commercial challenge to Myriad’s business. But developments which appear first in the pages of scientific journals or, as in the case of the Ghent and Leeds tests, in the University hospital setting, are certainly capable of showing up in commercial offerings before long. More immediately, NewGene’s stated intent is to expand its test’s availability beyond the United Kingdom to the rest of the European market and, ultimately, to come to the United States. GenomeQuest, of course, is already available in the United States.

So what about Myriad? For the moment, Myriad remains the exclusive commercial provider of targeted BRCA diagnostic testing in the United States. A major concern, however, is the company’s extreme reliance on the sales of a single product (BRACAnalysis) in a single market (the United States). Thus far, Myriad has achieved comparatively modest success developing a market for its other products (which include diagnostic tests for colorectal and uterine cancer, melanoma and pancreatic cancer) within the United States and for any of its products (including BRACAnalysis) outside of the United States. Currently, BRACAnalysis testing accounts for a striking 88% of the company’s nearly $400 million in annual revenues, with only 2% of those sales occurring ex-US. Myriad’s limited geographic reach, its heavy reliance on BRACAnalysis testing and current and projected competition from a growing array BRCA testing providers utilizing next-generation sequencing represent several of the key factors which caused Goldman Sachs to initiate its coverage of Myriad Genetics last month with a “Sell” rating (pdf).

Myriad, for its part, has taken some steps to address these concerns, in particular by seeking to expand its presence in Europe. Last July, the company created a new position—Executive Vice President of International Operations—in support of what Myraid’s CEO Peter Meldrum declared was the company’s “goal of building a significant presence in Europe by the end of 2012.” The subject of Myriad’s European expansion surfaced again this past January, with Meldrum making several intriguing remarks to investors during a routine earnings call. First, Meldrum indicated that Myriad plans to set up a central lab in Germany to process BRCA samples from all across Europe. That represented a change in plans from July’s announcement in which the company declared its intent to pursue its international strategy on a country-by-country and product-by-product basis—a necessity, given that each country has its own healthcare and reimbursement system.

A Change in Myriad’s Patent Policy? But the real eyebrow-raiser came when Meldrum was asked about Myriad’s patent enforcement policy as it seeks to enter the European market. Meldrum’s response: “if I had my druthers, I would not want to go into a new market in a heavy-handed fashion trying to enforce patents.” He suggested that Myriad might choose instead to rely on its “other competitive advantages that may make such [patent] enforcement unnecessary.”

The exact status and strength of Myriad’s patents in Europe has been cause for uncertainty for quite some time now. Myriad’s five European patents were narrowed significantly by the European Patent Office (EPO) several years ago and, as a result, are thought to provide less protection than the company’s United States patents (which are themselves under attack). A “European patent” is in fact a bundle of national patents issued by a central authority, the EPO; individual infringement suits have to be brought in national courts, one case at a time, which opens up the possibility of local political influence, as well as considerable delay and expense. Moreover, France, Belgium, and Switzerland all changed their laws in recent years to enable a form of compulsory licensing. They did so with Myriad’s BRCA patents explicitly part of the policy debate and rationale for change. Germany has not yet modified its laws in a similar fashion, and is where Myriad plans to build its base, but any attempt to enforce patent rights there could well precipitate the kind of intense firestorm of criticism that swept Australia when Myriad’s licensee there tried to enforce patent rights in 2008, and led Myriad to offer to revoke one of its Australian patents.

As a result, whatever the infringement analysis when examining a particular European competitor’s offering against Myriad’s European patents (and, as we have noted previously, whether or not next-generation sequencing approaches would infringe Myriad’s patents is not at all clear), the practical prospects for Myriad becoming the sole provider of diagnostic BRCA testing in Europe based on patent enforcement are somewhere between slim and none. Even if Myriad were to engage in a country-by-country patent battle and win far-from-assured victories in each case, the company could still lose the war for payment. Myriad would have to fight on a second front with a variety of national health systems holding the power of coverage and reimbursement decisions.

Which perhaps is what Myriad and Meldrum have recognized in citing the company’s “other competitive advantages that may make such [patent] enforcement unnecessary” in Europe. So just what are these “other competitive advantages”? Meldrum highlighted two for investors: speed and accuracy. Regarding speed, he claimed a two week turnaround time for Myriad versus up to a year for current European tests, although it should be noted that NewGene claims a 4-6 week turnaround for its BRCA sequencing product. With respect to accuracy, Meldrum claimed a 2% rate of finding variants of unknown significance (VUS) at Myriad—which seems low—versus a 30% VUS rate for the European tests—which seems high. In light of these advantages, Meldrum concluded on the January call, “I don’t believe that trying to enforce the patents is either a good idea or warranted at this time.”

So what might all of this mean for Myriad’s near-term commercial plans and patent enforcement policies? One option is to take Meldrum’s comments at face value. Around the world, in the popular press and in the eyes of many patients and healthcare providers, Myriad has been widely criticized for enforcing its patent monopolies with respect to BRCA genes and testing. If Myriad believes it can compete successfully in Europe without relying on its patent monopoly, why risk a further public relations backlash by filing patent infringement suits? In addition, one would think that Myriad’s dealings with the many European regulatory and payment authorities—which are unavoidable and will be difficult in their own right—would be less confrontational without pending patent litigation.

Against this background, Meldrum’s comments might be read as an effort to put a positive spin on the specter of growing concern over the degree of practical and legal protection Myriad’s BRCA patents will provide in the future.

The Point of Patents? But there is another layer of meaning to consider. Suppose that Meldrum is right about Myriad’s huge advantages in speed and accuracy. What explains those advantages? At least with respect to interpreting VUS results, such an advantage would derive, in all likelihood, from Myriad’s vast—and currently proprietary—database of BRCA test data, including VUS data. Data that Myriad generally doesn’t share, at least not anymore.

Until 2004, Myriad contributed VUS data to the Breast Cancer Information Core (BIC) mutation database—and publicly touted (pdf) those contributions. The BIC is an open access resource maintained by the National Human Genome Research Institute (NHGRI) to coordinate the detection, interpretation and dissemination of breast cancer mutation data. After November 2004, however, Myriad stopped depositing additional VUS data into the BIC (and has largely ceased publishing its VUS data in peer-reviewed literature, which would have a similar effect).

With that bit of background in mind, a cynic might read Meldrum’s comments like this:

While exploiting our U.S. patent monopoly over the past two decades we accumulated a unique database of relevant DNA sequence and clinical data. Now our U.S. patents are threatened, and many of them are expiring in the next few years anyway. And our international patents aren’t worth trying to enforce. We run a really efficient sequencing lab, and we’ve spent years getting agreements with hundreds of payers for our main BRACAnalysis test. So our new business plan is to combine production efficiencies and expand payment agreements, leveraging our unique proprietary data to retain US market share and enter international markets.

We take pains to emphasize that here we are speculating and, even if Myriad did go this route, there would be nothing strictly contrary to patent law in its doing so. Still, leveraging a proprietary database from a decade’s patent monopoly would be troubling, and would further damage Myriad’s reputation with patients, healthcare providers and the scientific and policy communities.

Among other things, such a strategy would run contrary—at least in spirit—to a policy against extending patent monopolies beyond their terms. In addition, the hoarding of immensely important clinical data does not seem likely “to promote the Progress of Science and useful Arts”—the Constitutional purpose of the patent system—and would provide ample additional ammunition to critics who claim that the current biotechnology patent landscape fails to properly balance commercial interest against those of science and society.

More practically, the current political climate is characterized worldwide, and especially in the United States, by calls for fiscal responsibility and an increasingly close scrutiny of government expenditures. Nowhere is this more true than in healthcare, where spiraling costs place pressure on national health systems (as well as private insurers) to separate effective modes of care from those which are merely expensive. There is little question as to the efficacy of Myriad’s current BRACAnalysis product. But should the company seek to extend its decades-long patent monopoly by restricting access to clearly relevant medical and scientific data, at a potentially considerable cost to both payers and the healthcare system, Myriad’s current and comparatively narrow patent issues might well take a back seat to more pressing economic and political concerns.

Still, for the moment, all of that is speculation. When it comes to Myriad’s actual plans, our best guess is that even Myriad itself has yet to decide exactly how it will proceed in the coming months. What Myriad does in Europe and/or in the United States will undoubtedly be dictated in large part by continuing shifts in the commercial landscape on both continents, as well as whatever happens next in the gene patent litigation, slated for oral argument at the Federal Circuit on April 4 (pdf).

Stay tuned.

Here in the U.S., the Supreme Court will consider the post-conviction DNA testing landscape in the Texas case of Henry Skinner. Thousands of convicts are requesting new DNA testing in light of the increasing number of exonerations based on DNA evidence. Skinner was convicted 15 years ago of murdering his girlfriend and her two developmentally disabled adult sons. At the recommendation of his attorneys, he declined DNA testing for his trial. Texas courts said he doesn’t currently qualify under a state law that grants DNA testing to some convicts, and federal courts refused to overrule Texas. The last time the Supreme Court considered this issue, in 2009, a divided court decided to let Congress and the state legislatures make the rules. Therefore, rules vary from jurisdiction to jurisdiction as to how requests for post-conviction DNA testing are handled. Perhaps this time the Supreme Court will decide to lay down some firmer ground rules.

A number of newer developments have caught our attention.

The Council for Responsible Genetics (CRG) in Cambridge, Massachusetts and GeneWatch UK teamed up to announce a new online resource called National DNA Databases last month. The website focuses heavily on the controversial topics of familial searching and advance DNA collection (requiring a DNA sample of all arrestees, when charges are filed, or as part of a plea bargain). In addition to information about 56 nations operating DNA databases around the globe (inaccessible to the public), this resource includes U.S. maps showing “State Rules on Partial/Familial Searching” and “States Collecting DNA Samples from Arrestees,” (same link) both discussed below.

Partial DNA Matching Expanding. Law enforcement officials typically search DNA databases for a profile that matches DNA from a crime scene sample. Partial or familial searching of DNA databases is a new method that allows the searcher to detect profiles that share some aspects of the crime scene DNA when no exact match is found. In states where this type of search is permitted, a partial match may generate new leads through investigation of close relatives of the person whose profile was in the database. All convicted felons and members of the military have been profiled in the U.S. databases for many years now, and increasingly many others are also included (see below). Partial matching effectively broadens the investigator’s castnet to reach close genetic relatives of everyone in the databases. Those family members can then be openly investigated or DNA tested through surreptitious sampling (considered legal because trash is public domain with no associated privacy rights, and thus a discarded coffee cup is fair game).

Last year Cass reported data from 2009 indicating that at least 15 U.S. states allowed the use of partial matches, but at least 10 of those required that the partial match be discovered unintentionally. It can be difficult to determine which states are actually utilizing this tool, because it often takes time to develop an official policy. However, the CRG website says that today at least 15 states allow intentional partial match searches, at least 6 allow a partial match to be utilized if discovered unintentionally, at least 5 have a “draft policy under review,” and 13 are operating under unknown policies. Only 11 states continue to prohibit partial matching and familial searching altogether.

Critics point out that partial matching is problematic for several reasons. For example, being related to a convicted felon or member of the military has no bearing on one’s own innocence. Vocal Maryland defense attorney Stephen Mercer says, “If my brother’s DNA ends up in the database, and he’s forfeited his privacy rights by becoming a convicted felon, has he also forfeited my privacy rights as a wholly innocent family member?” Likewise, members of the military do not intend to compromise their relatives’ genetic privacy simply because they agree to submit their own DNA samples.

Another problem is that the U.S. African-American population currently comprises a disproportionately large percentage of the databases because of their overrepresentation in the prison system. Therefore, partial matches leading to relatives of those in the databases will also disproportionately target African-Americans for criminal investigation. According to CRG, although African-Americans are only 12% of the U.S. population, their profiles constitute 40% of the Federal database. Creating a national database with DNA profiles for all U.S. citizens would go a long way toward solving this problem, but critics of that plan object on the grounds that requiring U.S. citizens to submit DNA is an unconstitutional invasion of bodily privacy.

On the other hand, familial searching is in fact an effective crime-fighting tool. The practice has greater public approval in the UK, where the technique famously led to the identification of the “Shoe Rapist” because of a partial match with his sister. The percentage of the total UK population represented in the national database is much greater than in the U.S. Now, a British MP is calling for DNA testing of the entire male population of Bristol, around 250,000 people, to help solve the murder of Joanna Yeates in December, 2010. Media reports indicate that there was no evidence of sexual assault, but that saliva was found on the exterior of Ms. Yeates’s clothing. And when predators remain at large in the U.S., such as in the Virginia case of Morgan Harrington and the recently announced serial killer in New York, familial searching increasingly gains support in this country too.

Advance DNA Collection Also Expanding. Advance DNA collection in the U.S. also continues to expand at various stages of the criminal procedure timeline. Previously, only persons convicted of felonies were required to submit DNA samples for federal databases. In fact, until 2004, federal law prohibited maintenance of DNA profiles in the databases for anyone who was subsequently acquitted. A very different picture exists now, according to CRG:

Today, 44 states collect DNA from anyone convicted of a felony, 39 states collect DNA from those convicted of certain misdemeanors, 28 collect DNA from juvenile offenders, 6 states collect DNA of all individuals arrested and some states (such as California) have started to retain DNA from individuals identified as “suspects.” Still other states such as Louisiana and New York have been discovered to have “offline” DNA databases including DNA samples and profiles taken from victims or suspects never charged with a crime.

Of particular interest is New York, where Governor David Paterson proposed legislation last year that would require even those convicted of low-level misdemeanors to submit DNA samples. That proposal has been moving slowly in the state legislature, but in the meantime, State Division of Criminal Justice Service Acting Commissioner Sean M. Byrne has issued a letter “strongly encouraging district attorneys in the state to require a DNA sample as a condition of all plea bargains.” Also in December, 2010 in California, Orange County officials unanimously voted to renew the District Attorney’s “spit and acquit” DNA collection program for another year.

Other Expansions of Forensic DNA. Massachusetts gave us the most surprising legal event of 2010 in the world of forensic DNA. The state’s highest court, the Supreme Judicial Court, affirmed the indictment of a DNA profile as a proxy under the name “John Doe” to circumvent the 15-year statute of limitations for rape, which was set to expire in that case. Critics of this decision point out that it essentially does away with the statute of limitations for cases with DNA evidence. The office of the state Attorney General, however, says it will “ensure that the clock does not run out on the use of DNA evidence to hold dangerous predators accountable for their violent acts.”

In newer technologies, Dan Vorhaus wrote last year about the potential use of DNA from a suspect’s pet or the suspect’s bodily bacterial signature to investigate non-human DNA profile evidence. Using a similar rationale, some businesses in the Netherlands have been equipped with a “device that sprays a fine, barely visible mist laced with synthetic DNA” as a way to mark a burglar with a unique DNA signature. Meanwhile, scientists at Erasmus University Medical Center in the Netherlands claim to be able to predict hair color using 13 markers in 11 genes. Previously, only red hair was predictable from DNA sequence. This investigative science needs further validation, but it could be useful, for example, in narrowing down a list of suspects with different hair colors, where DNA evidence has been recovered from a crime scene. And an interesting development was reported in Cardiff (UK), where bus drivers have suffered an unusually large number of personal attacks. The drivers are now being given spit kits, so that if someone spits on them, they can swab the saliva to assist in finding and prosecuting the spitter.

Continuing to Question the Reliability of Forensic DNA. DNA evidence is generally regarded as highly reliable, but lately research scientists have voiced skepticism about the degree of subjectivity sometimes required to make a determination as to when a match is found or when a defendant “cannot be excluded” on the basis of DNA evidence. A 2010 study showed that samples containing DNA from two or more unknown people present special challenges to forensic labs and force the analysts to make some judgment calls. The researchers sent a real gang rape sample to 17 different analysts and received back 3 different conclusions. Only one analyst arrived at the conclusion used to prosecute the one man who was convicted. A lack of national standards is partly to blame for the discrepancy. Ideally too, the analysts would be presented only with the DNA data, but many prosecutors provide the lab with additional information about the case, which may cause bias in the conclusions.

Another study reported a surprisingly high number of “coincidental matches” within state databases. The DNA profiling system is currently based on markers at 13 different variable spots in the human genome (“loci”). This report identified cases where all 13 markers matched in two people who were not identical twins. The researchers also discovered that partial match pairs with 9, 10, 11, or 12 loci in common were more frequent than expected. Both of the problems reported in these studies could be addressed by further examination of the DNA with sequencing or other more refined techniques, but even with the dropping costs of DNA sequencing, this would require tremendous financial investment. It would also increase the risk of exposing medically relevant genetic information, a problem largely avoided by current forensic analysis.

Where to Next for Forensic DNA? In light of these new developments and continuing questions regarding the use of forensic DNA tools and techniques, it is important to highlight one of the oldest and most successful applications of forensic DNA: the Innocence Project. Since its inception, the Innocence Project has used forensic DNA techniques to exonerate over 250 wrongly convicted people in the United States. The Innocence Project has expanded to an international effort, with the United Kingdom’s branch nearing its first exoneration (although not on the basis of DNA evidence), and advancing DNA sampling and analysis technology promises to drive further expansion.

When it comes to forensic DNA, the debate boils down to the same question as in many other contemporary debates, including TSA security searches, wiretapping, etc.: what price (both in financial and privacy terms) is society willing to pay in exchange for additional levels of safety? If events of just the past few months are any indication, this is a question that will continue to be thrust in front of both lawmakers and the voting public until it is more clearly resolved.

[Editor's Note: This post originally appeared as a

Last week, New York State assemblyman J. Gary Pretlow introduced the descriptively named “act to amend the insurance law, in relation to requiring coverage for genetic testing in accident and health insurance polices.”

While not accompanied by a press release, or widely covered by media outlets, the bill merits close attention. While the substance of the bill is striking, its greater import lies in what it reveals about the United States’ current framework for personalized medicine regulation and in what the bill portends for the future of personalized medicine innovation and investment in this country.

The Basics and Breadth of the Pretlow Proposal. Despite its broadly worded title, New York bill #A02325 has a specific goal: to require insurance companies to “provide coverage for genetic testing” for any individual who, “in the opinion of an attending physician, [is at] significant risk of contracting cancer.”

Though not discussed in the text of the bill of itself, the bill’s accompanying memorandum clarifies an intent to specifically require insurance companies to reimburse the cost of genetic tests for individuals deemed to be at significant risk of developing breast cancer (more on this below). With the new legislation, at risk patients “will be able to seek genetic screening and counseling that will be paid for by insurance.”

Whether the bill would require coverage for genetic tests aimed at any type of cancer (as the bill’s text implies), or only for breast cancer (as the explanatory memorandum indicates), its scope is significant. In addition to requiring insurance companies to provide coverage for these genetic tests, it would also require insurers to cover “any subsequent treatment resulting from the results of such test” (emphasis added).

Remember: It’s Only a Bill. Before we go any further, it is important to clarify that this is an introductory legislative proposal. Assemblyman Pretlow has attempted, unsuccessfully, to introduce similar insurance mandates in the past and his current attempt has only been read once and referred to the assembly’s Committee on Insurance. It is not the law of the State of New York. It is not even up for a vote.

Whatever the factors that prompted the bill’s introduction, it would seem to stand little chance of passing in its current form. A primary substantive objection is the exceedingly vague scope of the bill as presently drafted. Assemblyman Pretlow’s proposal does not specify the nature of the genetic tests for which insurance coverage would be required. For example, would it cover multiplex or whole-genome sequencing to identify all identified genetic markers of cancer susceptibility, or only more narrowly tailored susceptibility tests (e.g., Myriad Genetics’ BRACAnalysis)? Similarly, the bill fails to circumscribe the extent of “subsequent treatments” which must be covered by insurers. Would coverage extend to genetic counseling and/or other preventative measures, such as an elective mastectomy in the case of breast cancer, or would it be broad enough to encompass subsequent (and far more costly) therapeutic treatments in the event a cancer materializes?

These and other questions demand significant clarification. Meanwhile, preliminary reaction from the insurance industry has been strongly negative, suggesting that the likelihood of Assemblyman Pretlow’s proposal passing is slim, at least in its current form. But because of what it reveals about the state of personalized medicine regulation in this country, and what that implies about the future of personalized medicine globally, it is a bill that is noteworthy by virtue of its mere proposal.

A Local Solution; A National Problem. In 2008, the now-defunct Secretary’s Advisory Committee on Genetics, Health, and Society (SACGHS) published a comprehensive review of the “U.S. System of Oversight of Genetic Testing” (pdf). The 276-page report, which remains the most comprehensive analysis of its kind to-date, identified “significant gaps in the U.S. system of oversight of genetic testing that can lead to harms,” including incomplete, inconsistent and overlapping regulations at the state and federal level.

Nearly three years later, little has changed. As we wrote earlier this month, even as the number of genetic tests and other personalized medicine technologies and treatments proliferates, and despite significant talk about overhauling numerous aspects of this regulatory framework – from the NIH’s proposed Genetic Testing Registry to the FDA’s proposed oversight of Laboratory Developed Tests, among numerous other proposals yet to be implemented – the regulation of genetic tests, and of personalized medicine more broadly, continues to remain a messy, patchwork affair.

While regulators and regulated companies struggle to make sense of the current landscape, genetic testing has garnered increasingly high-profile media and political attention in several areas, including the viability of direct-to-consumer (DTC) genetic testing and the patentability of the DNA sequences and methods underlying certain genetic tests. As these issues remain unresolved – the Myriad litigation, for example, is now nearly two years old, and a resolution unlikely to arrive soon – the pressure on lawmakers to act continues to grow.

For example, one the key allegations raised by the Myriad plaintiffs in their initial complaint (pdf) was that Myriad Genetics’ patents on two key breast cancer genes (BRCA1 and BRCA2) mean that “many women at risk [of breast cancer] cannot even be tested because they are uninsured and/or cannot afford the test offered by Myriad.” It is hardly a stretch to view Assemblyman Pretlow’s proposal as a direct, legislative response to perhaps the most politically salient issue posed by the Myriad litigation.

A National Problem; A Global Shift? Taken purely from the perspective of women at risk of hereditary breast cancer who happen to live in New York state, Assemblyman Pretlow’s proposal to require insurance coverage of applicable genetic tests is a positive development. But viewed through a broader lens, the Pretlow proposal is symptomatic of a troubling and ongoing trend: the use of legislative band-aids (e.g., insurance coverage mandates) in an attempt to mitigate the effects of deeper and more serious problems in our personalized medicine regulatory framework.

While significant for a subset of individuals, a bill which would create separate insurance coverage criteria for a subset of genetic tests and follow-on services in a single state would further complicate the existing personalized medicine landscape for national insurers, healthcare providers, genetic test developers and patient advocacy groups. Far from addressing the problems identified by SACGHS three years ago, it would make them worse.

Continued legal and regulatory development in this direction could be tragic for personalized medicine – both the industry and the patients it seeks to serve – in the United States over the long run.

Last week, the global consulting firm PwC published its Medical Technology Innovation Scorecard. The full report (pdf) evaluates the capacity and capability of nine key countries, including the U.S., for medical technology innovation. One of PwC’s key findings was that “the medical technology innovation ecosystem, long centered in the United States, is moving offshore.”

According to PwC there are a number of reasons why this is happening, including the increasingly labyrinthine United States regulatory system:

The citizens of countries with more efficient and less uncertain, capricious and complex regulatory approval processes will gain earlier access to innovative medical technology, and providers in those countries will benefit from more experience in using new devices…Countries with long, complex, arbitrary, nontransparent, costly approval pathways will discourage entrepreneurs and investors, causing them to launch new products elsewhere.

The PwC report made a splash when it was released last week, in part because it attempted to quantify what SACGHS and so many other advisory groups, executives and investors both before and since have noticed: bringing medical and healthcare innovation to market in the United States is an increasingly time-consuming, expensive and frustrating process.

As Luke Timmerman of Xconomy notes, although the United States may not be moving in the right direction, its fall from the top of the heap is hardly inevitable. Timmerman suggests that a few strategic “policy moves could be enough to keep the U.S. in the lead of med-tech innovation for a long time.” That’s probably correct, but it’s important that those moves are timely made.

It is becoming increasingly clear that the regulatory, reimbursement and intellectual property structures that both support and constrain personalized medicine innovation and commercialization in this country are all in need of a strategic and comprehensive overhaul.

The PwC report is a reminder that this overhaul must come relatively soon if it is to head off a significant and long-term shift in the geographic center of gravity for personalized medicine innovation and investment. And the Pretlow proposal, no matter how well-meaning, is a reminder of the “uncertain, capricious and complex” legal and regulatory framework that will continue to frustrate personalized medicine innovation in the meantime.

The GenDG (pdf) took effect early this year and, until recently, little news of its impact on German law, policy or business has made its way across the Atlantic. Last week, however, several prestigious German scientific academies released a report entitled “Predictive Genetic Diagnostics as an Instrument of Disease Prevention.” The “Academy Group,” as the report’s authors refer to themselves, consists of the Leopoldina, the Berlin-Brandenburg Academy of Sciences and Humanities and the German Academy of Science and Engineering Acatech. Astoundingly, according to a recent editorial in the journal Nature, the report is the first from the group in its 350 year existence.

While the Academy Group’s report “discusses all aspects of genetic testing of healthy individuals to prevent disease, including the medical, ethical, economic and legal dimensions of the issue,” it takes particular issue with the GenDG. In a press release announcing its report, the Academy Group characterized the GenDG as “out of touch with the latest technology, almost impossible to implement in clinical practice” and “in desperate need of amendment.”  The complete report (pdf) is available only in German, but the Academy Group’s summary and twenty-two recommendations (pdf) addressing both genetic testing and the GenDG specifically are available in English.

Reviewing the Recommendations. The Academy Group’s recommendations are informed by a fundamental belief that genetic testing should be focused on helping people “to remain healthy, to regain their health or, at least, to alleviate the consequences of illness.” Although the Academy Group briefly notes, later, that genetic testing “can be advantageous for the life planning of a person,” the clear focus is on clinical utility. Apart from genetic research, no meaningful value is ascribed to other uses of genetic testing and data that appear to have gained much more traction in the United States, the United Kingdom and elsewhere, including ancestry testing, self-experimentation and testing for medical conditions that possess personal utility even if they do not rise to the level of current clinical utility.

An Excess of Information. Another theme that runs through the Academy Group’s recommendations is a concern about an “excess of genetic information” generated by the increasing proliferation of genetic testing and, in particular, whole-genome sequencing. Although some may consider there to be no such thing as too much genomic data, the group’s concern is at least consistent with its core belief that genetic data is valuable solely to the extent of its clinical utility. Given that certain genetic data is acknowledged to be of limited clinical value for many individuals, at least as of today, the Academy Group sees such “excesses” as likely.

Despite its underlying concern about excess genetic data, the Academy Group clearly thinks the GenDG’s nearly complete prohibition on the long-term storage of genetic information takes things a step too far. The problem lies with §12 of the GenDG which requires, with very limited exceptions, the “immediate” destruction of genetic information after 10 years. The Academy Group’s recommendations encourage the GenDG to “take into account the aspects of long-term storage and subsequent analysis of the excess of genetic information” and, if adopted, would specifically remove the flat prohibition on storage of genetic information beyond a decade.

The group’s primary recommendation is reasonable: individuals should be allowed to decide, in conjunction with an appropriate healthcare provider, whether to (a) use such excess information in a specific manner (although no examples are provided), (b) destroy the information or (c) “save [it] for the time being in an unused state.” This would, in effect, allow the individual and her healthcare provider to determine what constitutes “excess of genetic information”, rather than continue the GenDG’s approach of statutorily determining non-clinical genetic data to be excess and thus not valuable.

However, the Academy Group’s recommendation extends only to individuals competent to make such a decision. Children or temporarily incompetent adults should not, according to the Academy Group, be given the option to use or seek to interpret any excess genetic information “because this would take the option of ignorance away from the examined person.” The Academy Group recommends that the information be “saved in a restricted form” until “competency is bestowed”—in the case of a child, at her 18th birthday party—at which point the individual would be allowed to decide for herself.

While the Academy Group’s recommendation with respect to genetic testing of children is more permissive than what appears to be allowed under the current GenDG framework, it is still at odds with practices in other countries where the genetic testing of minors for non-clinical purposes is not expressly prohibited.

Genetic Screening and Unintended Consequences. Several other Academy Group recommendations concern genetic screening at various stages, from preconception (carrier testing) to prenatal to postnatal (newborn screening). The recommendations are consistent with the fundamental approach of requiring testing to be related to medical treatment. This leads to the curious consequence of recommending limitations on testing of an unborn child but, once the child is born, encouraging genetic testing.

While the Academy Group recognizes that “healthy people or couples can be interested in finding out whether they are genetic carriers of any recessive hereditary disease…to assess the health risk of their own child,” the group believes that such carrier screening is not yet ready for widespread medical or commercial use. The group recommends:

For the time being, systematic heterozygote examinations with regard to the health risks for the children of the examined people should only be carried out as part of research projects. They should be embedded in secondary medical, ethical and social research in order to gain experience about the personal and social effects.

While numerous carrier screening providers offer services outside of Germany—both directly to consumers and through licensed healthcare providers—the Academy Group appears to have no interest in seeing Germany following suit.

The group’s recommendation, if adopted, could have the unintended consequence of promoting a new form of “medical tourism,” with some German couples taking a quick trip abroad (e.g., to the United Kingdom) for preconception carrier testing.

When the Academy Group turns to testing of newborns, it is critical of provisions of the GenDG that have the effect of discouraging or interfering with such testing:

The Gendiagnostikgesetz considers the newborn screening as a genetic survey. Accordingly, since the Gendiagnostikgesetz came into force, the parents must be provided with a genetic consultation before blood is taken. Baby nurses and midwives, who previously took the blood, are no longer allowed to do this on their own responsibility. There are already indications that this is leading to the newborn screening not being carried out for some newborn babies. This can lead to life-long disability, which could have been avoided with early diagnosis and appropriate treatment.

The Academy Group’s recommendation in response is sensible: the GenDG “should regulate the newborn screening separately” and, presumably, in a fashion that does not hinder the practice from occurring routinely.

Conflicting Duties. A consequence of the GenDG’s extremely patient-centered and protective approach to genetic testing is that, according to the Academy Group, “without exception” the GenDG “considers confidentiality for patients to be of a higher significance than the medical fiduciary duty towards relatives that have a high risk of developing” a genetic condition. Under the GenDG, doctors are strictly prohibited from discussing genetic information with a relative, even where doing so might have significant clinical utility.

The Academy Group recommends a change in the weighting of these competing duties, saying that “in cases of clear medical benefits” doctors be permitted to balance the importance of individual genetic privacy enshrined in the GenDG against the clinical utility of genetic information to an individual’s relatives. Interestingly, the Academy Group does not propose—as it does elsewhere—a specific modification to the GenDG to enable this exercise of physician discretion, and it remains unclear whether following the group’s recommendation would leave doctors on the wrong side of current law.

The difficulty of balancing the competing duties of individual confidentiality, particularly in the context of genetic information, and the broader utility of genetic information, particularly for an individual’s close relatives, is not a problem unique to Germany or the GenDG. The United Kingdom’s General Medical Council addressed this exact issue last year and reached a conclusion similar to that of Germany’s Academy Group. As this issue continues to show up in a variety of contexts, policymakers—and especially doctors—are likely to continue to struggle to strike the proper balance.

Direct-to-Consumer Testing. Unsurprisingly, the Academy Group’s recommendations also tackle the topic of direct-to-consumer (DTC) genetic testing, which remains one of the most hotly contested areas of genetic testing regulation and policy as we head into 2011.

As we noted last year, the GenDG arguably already prohibits all DTC genetic testing. Nevertheless, the Academy Group expresses concern about the “uncertain scientific basis” of DTC tests, as well as with the possibility of surreptitious testing. Seeking to make the GenDG’s likely DTC ban explicit, and consistent with the Academy Group’s emphasis on clinical utility in genetic testing, the group recommends that DTC tests “not be permitted because they do not fulfill the requirements of medical and ethically acceptable predictive genetic diagnostics.” (The Academy Group also offers a separate recommendation banning all DTC advertising for genetic tests.)

The unfavorable outlook of legislators and policymakers toward DTC genetic testing is hardly restricted to Germany. In the United States, a report issued by the Government Accountability Office (GAO) over the summer was sharply critical of DTC genetic tests—although critics of the GAO report’s methodology and conclusions abound—and the Food and Drug Administration (FDA) is preparing to regulate all laboratory developed tests (LDTs), including DTC genetic tests. (For a more complete overview see The Past, Present and Future of DTC Genetic Testing Regulation.)

A Global Perspective. Finally, the Academy Group exhibits at least a partial recognition that Germany’s approach to genetic testing may not be perfectly aligned with the rest of the world.

The Academy Group’s sixth recommendation acknowledges that German laboratories often receive samples from abroad and, were the GenDG to be strictly applied, it might operate to significantly curtail the foreign business of German companies in light of the substantial consenting requirements imposed by the GenDG (among its other provisions). In recognition of this issue, the Academy Group recommends that:

The genetic analysis of a sample acquired abroad by a German laboratory should be acceptable if the doctor that has sent the sample confirms that the person concerned has been provided with information about the being, scope and significance of the genetic examination in accordance with the legal regulations in the sample’s country of origin and the person concerned has subsequently granted his consent.

Quite sensibly, the recommendation appears to permit German laboratories to process samples for diagnostic testing if the submitting doctor verifies that the sample is being sent in compliance with the laws of the sample’s country of origin.

Note, however, that other restrictions imposed by the GenDG appear to remain in place. Given the broad limitations the GenDG imposes on genetic testing products and services, including on both the circumstances in which testing may occur and the type of analyses which may be conducted, it seems likely that, even if this particular recommendation is adopted, German laboratories and genetic testing providers will struggle to offer the same suite of products as their international competitors. If the Academy Group’s aim is to ensure that German laboratories remain competitive at the global level, its recommendations will likely need to be broadened.¹

Other Recommendations. The remainder of the Academy Group’s recommendations echo those made by the vast majority of policy groups to review the issues surrounding the development and adoption of genetic testing. These include a need for (a) more research into the genetic bases of complex traits and the cost-effectiveness of existing technologies and services, (b) more specialists in human genetics and more effective training in genetics for existing medical professionals, (c) a renewed focus on translational research and (d) improved public and educational outreach concerning the “possibilities and limits of genetic medicine.” All of these goals are laudable and, at this point, none are surprising.

What’s Next for Germany? It remains to be seen whether some or all of the Academy Group’s recommendations will be adopted by German lawmakers. Of particular interest are those recommendations that require, explicitly or implicitly, revisions to Germany’s just-passed GenDG legislation.

However, even if all of the group’s recommendations are adopted, GenDG will continue to stand as one of the most restrictive and, yes, paternalistic pieces of genetic legislation passed by any country to date. As other countries continue to grapple with how to appropriately regulate genetic technologies, including genetic diagnostic products, Germany’s experience with the GenDG may serve as a test case for one approach.

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¹ We are unaware of the effect, if any, that the GenDG is currently having on German biotechnology companies, entrepreneurs and investors, but would welcome feedback from our readers on this point.