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

Last month, the Pennsylvania General Assembly voted in favor of a bill that would expand the Commonwealth’s criminal database. PA Senate Bill 775 authorizes law enforcement to begin DNA fingerprinting of individuals upon arrest or charge for certain specified crimes (as opposed to only upon conviction) and authorizes familial searching of the state’s forensic database. After third consideration, the amended version of PA Senate Bill 775 passed by a vote of 42-6. The bill has been referred to the judiciary.

The bill had been introduced in March of 2011 by Pennsylvania Senate Majority Leader Dominic Pileggio, who was later joined by a dozen colleagues (including nine Republican and three Democratic sponsors). It immediately garnered the attention of genetics law scholars, including Penn State Dickinson’s School of Law Professor David Kaye, who submitted a thorough statement (pdf) for the Pennsylvania General Assembly’s consideration.

The bill as passed is significantly different from the original bill in at least one respect. The original version of the bill had a narrow, onerous expungement process. That process required an individual to petition the government to have its DNA sample and profile expunged. This process would have put a considerable burden on arrestees whose DNA sample and corresponding DNA profile had been collected at booking. As originally drafted, expungement could only be granted if the individual established by clear and convincing evidence (a relatively high burden of proof) that (1) the charges were dismissed or never filed, (2) there had been an acquittal of the charges, or (3) inclusion was by mistake.

The amended version (pdf) has made the expungement process automatic in some circumstances, mandating that the individual’s DNA sample, record, and profile be expunged if the:

• conviction has ultimately been reversed and the case dismissed;
• charge leading to the individual’s inclusion in the database has been dismissed with prejudice;
• individual has been acquitted of the charge that led to inclusion in the database;
• individual was never charged for the crime that led to the individual’s inclusion in the database;
• prosecutors have decided not to prosecute the individual for the crime that led to the individual’s inclusion in the database;
• charges were not filed within the statute of limitations; or
• individual has been issued an unconditional pardon for the crime that led to inclusion in the database.

It is notable that PA Senate Bill 775 does not limit familial searching to partial CODIS matches but also explicitly authorizes mitochondrial DNA analysis, Y-chromosome analysis, and “[a]ny other suitable method designed to determine that a crime scene DNA profile originated from a close relative of an individual in the State DNA Data Base.”

Ultimately, PA Senate Bill 775’s authorization of familial searching would distance the Commonwealth from its southern neighbor, as familial searching is prohibited in Maryland. Familial searching, discussed on several occasions here at the Genomics Law Report, is permitted in only a few states (including California, Colorado, Texas, and Virginia). A recently published policy report provides valuable background information for those seeking further information on the topic.

Phillip C. Ross is a summer associate at Robinson, Bradshaw & Hinson, P.A. and a rising third-year student at Wake Forest University School of Law.

Many health care providers and other individuals and entities who deal with sensitive patient information may assume that if they comply with the Health Insurance Portability and Accountability Act (“HIPAA”), they need not worry further about the proper use or disclosure of patient data. However, a recent Michigan Court of Appeals decision served as a reminder to those individuals and entities that they must not only ensure compliance with HIPAA, but also any state laws that are more demanding than HIPAA.

HIPAA establishes regulations for the use and disclosure of Protected Health Information (“PHI”) held by “covered entities” (pdf) and “business associates.” PHI is any information held by a covered entity related to health status, provision of health care, or payment for health care that can be linked to an individual.

In Isidore Steiner, DPM, PC v. Marc Bonanni, No. 294016 (Mich. Ct. App. Apr. 7, 2011), the Michigan Court of Appeals held that HIPAA acts as a federal “floor” in establishing standards for the privacy of patients’ PHI. Although Bonanni was decided under Michigan law—and thus is not binding on other states—the decision is likely to be consistent among courts in other states.

The reason? HIPAA explicitly provides that where a state law is more protective of patients’ PHI than the applicable provision of HIPAA—that is, where the state law is more “stringent”—the state law will prevail (pdf).

Breaking Down Bonanni. In Bonanni, the Family Foot Center (the “Center”)—a covered entity—sought to enforce a non-compete agreement with one of its former physicians (Dr. Marc Bonanni). The Center believed that Dr. Bonanni had solicited its patients in violation of the agreement, and as part of pre-trial discovery, the Center requested Dr. Bonanni’s patient lists. Dr. Bonanni objected to this request, asserting that HIPAA and Michigan law protected this information from disclosure unless the Center first gained the consent of the patients in question. The Center filed a motion to compel the disclosure of this information, and the Michigan Court of Appeals chose to apply Michigan law instead of HIPAA.

Generally, HIPAA requires patient consent for the disclosure of PHI, just like Michigan law. However, with respect to responding to a subpoena or discovery request, HIPAA and Michigan law are in conflict. While a HIPAA exception allows for an entity to disclose an individual’s PHI without a written authorization in this situation, Michigan law contains no such exception. In Bonanni, the Court held that Michigan’s law provided more stringent protections than HIPAA for the PHI at issue, and so it applied Michigan privilege law in denying the Center’s discovery motion.

What Bonanni Teaches Us About PHI. The Bonanni ruling certainly limits the information that physicians can release during legal proceedings in Michigan. This will also likely be true in other states with similar discovery laws, as evidenced by a recent California Supreme Court ruling upholding a lawsuit (pertaining to the disclosure of medical records to a credit reporting agency) brought under a state medical information statute with provisions more stringent than HIPAA (Brown v. Mortensen (pdf), Case No. S180862 (Cal. Jun. 16, 2011)). There, too, the court held that HIPAA “authorized and encouraged further state regulation” in matters of patient medical privacy.

However, individuals and entities in every state deal with PHI in many other mediums and contexts outside of a discovery request during litigation, and Bonanni’s broader lesson is that HIPAA serves only as a federal floor when it comes to patient privacy provisions.

For instance, a Health Information Exchange (“HIE”) (also known as a Health Information Organization (“HIO”)) deals with PHI through the use of electronic health records (“EHRs”). An EHR contains sensitive patient data—including certain demographic information that would identify the patient—and it follows the patient to any and all hospitals to which he or she goes. The HIE/HIO pulls in data relating to that patient from the insurance company or government agency, from hospitals and physician offices, labs, pharmacies and other sources of clinical and administrative data. Then, the HIE/HIO provider may, among other things, analyze the patient information and derive alerts and recommendations to turn the data into actionable information. The benefits of such a program are wide-ranging, from simply reducing paper to creating an accessible information portal that enables physicians to coordinate care, use clinical research to devise the best treatments, encourage prevention and better manage chronic conditions.

In short, the effective use of EHRs by HIE/HIOs and other HIPAA covered entities is central to the continued progress of personalized medicine. Nevertheless, while an EHR program may provide a number of important benefits, it is also susceptible to PHI security issues under HIPAA and/or any other “more stringent” state laws, which could present the same state law preemption issue addressed in Bonanni.

For example, if an HIE/HIO—or any other entity subject to HIPAA—wished to use PHI in the course of conducting research, HIPAA would allow (pdf) such a use of PHI with individual authorization, or without individual authorization under limited circumstances. State law, however, may not be as flexible, and many states may lack a research exception to the use of PHI or may require different standards for individual authorization. In such a scenario, the more stringent state law is likely to prevail, restricting the ability of the HIE/HIO or other HIPAA-covered organization to use PHI to conduct research, no matter how important.

As shown by this hypothetical, despite the importance of PHI to the development of EHRs and the advancement of research essential to personalized medicine’s progress, Bonanni and Brown each make clear that that individuals and companies utilizing PHI must consider more than just HIPAA compliance. In fact, those individuals and entities who operate at a regional or national level would need to consider multiple (or even all) states as part of an effective compliance strategy.

Individuals and entities who deal with PHI should contact a qualified attorney who will undertake a detailed analysis of the applicable federal, state, and local laws prior to making any disclosure, transmission, or other use of PHI. By considering all sources of law, and not just the federal rule, health care providers, researchers and technology developers can minimize the inherent risk in dealing with PHI and work towards full compliance with privacy laws.

Continuing Uncertainty Over FDA’s 510(k) Overhaul. As we have discussed previously, in addition to overhauling the approval process for direct-to-consumer (DTC) and laboratory developed tests (LDTs), the FDA is also in the midst of a comprehensive review of its 510(k) clearance process for medical devices.

The FDA’s Centers for Devices and Radiological Health (CDRH) released proposed changes to the 510(k) program this past summer and further revised its recommendations in January after substantial industry feedback. The goal of the recommendations is to streamline the 510(k) review and clearance process while ensuring certain higher-risk devices, particularly those currently approved as substantially equivalent to existing devices, receive appropriate scrutiny.

Even with the ongoing overhaul, the FDA’s 510(k) review process drew renewed attention from two separate Congressional committees last week. On Wednesday the Senate held a hearing entitled “A Delicate Balance: FDA and the Reform of the Medical Device Approval Process.” The House followed a day later with “Pathway to FDA Medical Device Approval: Is there a Better Way?”

The Senate hearing was held before the Special Committee on Aging, in part to address concerns raised in a new GAO report which alleges that the FDA is putting patients at risk by approving high-risk medical devices under the 510(k) medical device pathway without sufficient pre-market review. The House hearing focused on “the FDA’s inconsistent application of reasonable standards for safety and effectiveness in approving medical devices, and the impact it has on American job creators.”

Overlaid on all of the FDA-proposed 510(k) changes and Congressional hearings is the forthcoming independent review of the 510(k) program by the Institute of Medicine (IOM). The IOM, whose report is due this summer, has already been criticized for failing to incorporate representatives from the medical device community into its review process. Last week, Senator John Kerry (D-MA) added his voice to the list of IOM critics, delivering an open letter to FDA head Margaret Hamburg expressing concerns with several proposed 510(k) changes and urging greater industry representation in the IOM review process.

FDA Looking Ahead to Companion Diagnostics, WGS and EHRs. Also in FDA regulatory news, long-awaited companion diagnostics guidance is in the “sign-off” stage at CDRH. The announcement was made by Elizabeth Mansfield, Director of Personalized Medicine in the CDRH’s Office of In Vitro Diagnostics (OIVD) and reported by Pharmacogenomics Reporter. FDA officials also note that similar guidance for co-developed diagnostics will likely take much longer.

Mansfield also responded to criticism that the FDA does not appear well-prepared for forthcoming regulatory challenges, including the likely rapid expansion of diagnostic tests based on whole-genome sequencing (WGS). This is a topic we have addressed several times (see, e.g., here and here), and Mansfield noted that “the FDA has formed an inter-agency, inter-departmental working group to try to discuss some of its forthcoming challenges, including whole-genome sequencing technologies.” She added that the FDA is “on top of it as we can be.”

Finally, another looming question for the FDA as it seeks to clarify its regulation of new medical technologies: will the FDA deal with the increasing prominence of electronic health records (EHRs) by regulating EHRs as medical devices? Speaking at a recent EHR conference, CDRH Director Jeffrey Shuren “acknowledged that the potential of FDA regulation [of EHRs] raises serious clinical issues and is a ‘political hot potato.’ ‘As of right now we’re not regulating EHRs, and it may turn out that we won’t,’ he said.” According to Healthcare Informatics, the FDA is likely to issue new rules for software regulation, including medical apps for mobile platforms, in either late 2011 or in 2012.

As we have written previously, the FDA will face substantial challenges over the next several years as it attempts to apply its limited regulatory resources to an expanding array of healthcare products and services, all while walking the fine line between protecting public safety and safeguard scientific and medical innovation.

Science Funding Updates. Although many federal employees anticipated a furlough earlier this month, Congress reached an eleventh hour agreement to cut $38 billion from discretionary spending and avoid a government shutdown.

We have updated the figures from our earlier roundup to show how this latest budget compromise affects federal science funding.

Even with these changes, the budget compromise for FY 2011 (pdf) is not quite complete. The CR does not mention spending for CAN (the Cures Acceleration Network), part of NIH Director Francis Collins’s hotly debated National Center for Advancing Translational Science (NCATS).

Keep in mind, too, that FY 2011 ends in September. A renewed debate later this year over science funding levels in the FY 2012 budget is a strong possibility.

Uncertainty in Newborn Screening. An area of ongoing controversy and uncertainty is the legal status of newborn screening programs, with recent litigation in Minnesota and Texas focusing attention on the issue (see prior GLR coverage).

A recent study published in Pediatrics (pdf) evaluated state laws and policies on newborn screening, including the retention of dried blood samples (DBS), which are often retained for both quality control and unrelated scientific and public health research. The study authors found that states vary widely in the treatment of newborn blood samples following initial screening. A total of 18 states appear not to have addressed DBS retention or use at all, while the remaining states “have wide variability in their policies regarding the retention and use of DBS.”

The study, which was also covered by the Genetics & Public Policy Center, is another reminder that many states lack clear legal and regulatory guidance across a range of increasingly important healthcare activities, including newborn screening. Legal harmonization will be important to support efforts seeking to improve the effectiveness and breadth of newborn screening, such as the national newborn screening clearinghouse under development by Genetic Alliance.

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

• RT @GENbio: NIH and FDA Taking Partnership for Regulatory and Translational Science One Step at a Time http://bit.ly/hLvRe9
• RT @MishaAngrist: MT @matthewherper: DNA Sequencing Story Wins Pulitzer Prize http://bit.ly/fR5Vu3 Pulitzer awarded before X Prize…
• Tax, regulatory changes lead device firms to consider relocating: http://bit.ly/hTeLiL via Mass High Tech
• Biotech missing big opportunity by focusing on major mkts & “thought leaders,” ignoring Smalltown, USA http://bit.ly/gi7Brw
• Hope lessons of #sagecon will flow to this conf next month: http://bit.ly/epMlQm HT @BiotechPatent
• Favorite Latham line: “failure to find meaningful inherited genetic predispositions likely to become most profound crisis science has faced”
• “The failure of the genome” op-ed a study in alarmism, hyperbole: http://bit.ly/iayzD2 @dgmacarthur’s prior response: http://bit.ly/h8qgSb
• Do-it-yourself DNA testing: A risk or a right? http://lat.ms/gepSZu Pro/con in LA Times, incl. view from @MishaAngrist HT @Sagebio
• RT @Sagebio: 2011 Sage Bionetworks Commons Congress presentations and videos now on line http://bit.ly/dVkGyp #sagecon
• Yes. RT @bigs: @drjonboyg @dgmacarthur @matthewherper What if we think of (data) consent as process rather than event?
• Beta site for “That’s My Data”: http://bit.ly/dGD5Ot @sharonfterry @GeneticAlliance Looking forward to more.
• RT @wilbanks: $1M USD pledged by @sagebio to fund open legal tools for citizen engagement in health. Informed consent, etc. #sagecon
• RT @jasonbobe: Wonderful proposal by @sharonfterry: “That’s my data”: develop tools, help ppl liberate data from academia/industry #sagecon
• For data only, I take the under. MT @iGenomics: Lee Hood: $1000 genome in 3 year. 5-8 yrs to be cheap enough to get info into health record.
• RT @FierceBiotech: RT @celiacdisease: I love this from NIH chief Collins: Data is not the plural of anecdotes #ahcj11
• RT @finchtalk: #sagecon for the FDA, the tidal wave of data, comes to them on paper, delivered by trucks.
• Vicki Seyfert-Margolis of FDA speaking at #sagecon. @MishaAngrist @ldtimmerman @finchtalk @sharonfterry have commentary.
• Find it interesting @CompleteGenomic ($GNOM) considers WGS a “two-horse race” w/ $ILMN: http://bit.ly/e0DK70 Even if true, doubt it lasts.
• More from the “if genetic information is not perfect, it is unethical to provide it” camp: http://ind.pn/fDQmQN HT @MishaAngrist
• RT @InSequence: Complete Genomics Shipped 600 Genomes in Q1; Plans to Expand to Asia in 2013: http://bit.ly/igE3d0
• As a counterpoint, Stewart Lyman offers this FDA defense: “Why Do I Love Drug Regulation? Simple: It Keeps Us Safe” http://bit.ly/e07Dfz
• Boston Biotech biz dev conf roundup: @Xconomy http://bit.ly/hKDq84 & Globe: http://bit.ly/eQJml5 Surprise: biotech worried about pharma, FDA
• Boston Globe recalls the life of Henry Louis Gates, Sr., incl. his involvement with @PGorg: http://bo.st/f723FF
• Already seeing this, at least definitionally. RT @genome_gov: key will be if GINA’s principles incorporated into other legislation #ELSI11
• RT @westr: RT @dienekesp “Direct-to-consumer testing: if consumers are not anxious, why are policymakers?” http://bit.ly/gWPYeI #pm101 #ELSI
• RT @InSequence: 454 GS Junior Drives 1 Percent Growth in Roche’s Sequencing, Array Business in Q1: http://bit.ly/eLnsuP
• RT @dgmacarthur: Ooh, @genomera is looking for a new product designer. Smart tweeps interested in startups and DIY genomics, talk to @bigs.
• RT @wilbanks: #sagecon great example why data governance more complex than open/not open. data governance > definitions and declarations.
• Damn! I’m clearly in the wrong Cambridge! MT @dgmacarthur: celebrating DNA Day w/ @genomesunzipped crew @ The Eagle (Watson & Crick’s pub).
• RT @FierceBiotech: Biotech VC dollars rise, but deal numbers fall. http://bit.ly/g37v46
• RT @BiotechPatent: RT @MassDevice Capitol Hill Update: More medical device hearings slated for this week | MassDevice.. http://bit.ly/hMHzoz
• Idea similar to what @PGorg does, but PGP relies on information altruists. One thing clear: we must try mult models of informed consent
• On new models for genomic research, at #AAAS event yesterday Latanya Sweeney made very similar argument: informed consent as contract.
• “Genomics, Biobanks, & the Trade-Secret Model.” Science: http://bit.ly/gyJDYn non-paywall summary: http://bit.ly/dYVpTr
• Great #DNADay lineup, opportunity, gong on right now RT @mikesgene: Let’s Talk DNA : http://bit.ly/exhJZa
• RT @bmahersciwriter: Collins: grant success rate will drop below 20% in the next year. For the first time in history #ahcj11
• Post from @23andMe officially announcing new Alzehimer’s/APOE reporting: http://bit.ly/fQHawh
• RT @wilbanks: Watch out for tons of #sagecon tweets today. Filter if you don’t like open bio, watch online @ http://bit.ly/dPdUkl if you do.
• RT @dgmacarthur: To access new APOE results at @23andMe you need to pass this (entirely appropriate) lock screen: http://twitpic.com/4l1jld
• RT @dgmacarthur: Some very quick thoughts (with screenshots) on @23andMe’s new APOE Alzheimer’s risk prediction: http://bit.ly/fqYyu5
• GLR Post: Fabry Patients Ask for Rehearing of NIH March-in Petition http://bit.ly/g63ztD
• The future of personalized medicine: gene patents, DNA testing & FDA regulation http://smrt.io/dP3SAP my Q&A w/ @boonspoon on @SmartPlanet
• Off to MA for “Privacy, Autonomy & Personal Genetic Info in the Digital Age” w/ @geochurch, @zittrain et al: http://bit.ly/2jpfj
• Thx to @drjonboyg for live tweets. Recommend going back and reading them here: http://bit.ly/eCE8AW #ELSI11
• The #ELSI11 panel on WGS w/ Duke’s Bob Cook-Deegan & @MishaAngrist, @23andMe’s Joanna Mountain & NHGRI’s Jeff Schloss seemed great.
• Solve this prob, become insta-billionaire: MT @dgmacarthur @pathogenomenick timely replies to email incompatible w/ getting ‘real’ work done
• RT @bioitworld: David Dooling (Wash U.): “Uncertainty makes some ppl want to cling to guns & religion. Others cling to their data.” #BioIT11
• RT @ldtimmerman: RT @PearlF: & jobs won’t be coming back RT @matthewherper: In past decade, drug cos have cut 300K jobs. http://ow.ly/4zujT
• RT @GenomeWeb_News: Quest Deal for Celera Clears US Antitrust Review: http://bit.ly/efYRSC
• MT @humangenomeorg: OMIM (Online Mendelian Inheritance in Man®) avail through new & improved site: http://www.omim.org/
• RT @dgmacarthur: I have a guest post on solving rare diseases with exome sequencing over at the Wellcome Trust blog: http://bit.ly/fCypuq
• RT @dgmacarthur: Dan Koboldt has a typically thorough post on the new sample prep instrument from Ion Torrent: http://bit.ly/g1MJew
• Final SACGHS (R.I.P.) report on Genetics Education and Training is now avail: http://bit.ly/fiVddD
• RT @Mjoseth: April 15, listen to Dr. Rodriguez, NHGRI, speak about NIH Genomic Data Sharing Policies http://bit.ly/gpQP1W
• The latest @iontorrent upgrades (and ads) covered by @matthewherper: http://ow.ly/4zfp2 PR here: http://bit.ly/g4DjcJ
• RT @dgmacarthur MT @drjonboyg [Malia Fullerton]: Current human research protection emphasizes risk protection over respect #ELSI11
• GAO to appear at Congressional hearing, criticize FDA oversight: http://nyti.ms/ez6Iex via NYTimes #soundfamiliar?
• After revisiting ’10 biotech IPOs, @LifeSciVc finds a glimmer of hope for the ’11 class: http://bit.ly/fW0KeL
• RT @awjourn: Biotech Execs Gather in NYC to Banter about the City’s Challenges and Opportunities http://tinyurl.com/3grsx8g
• Most States Unclear About Storage, Use Of Baby Blood Samples, New GPPC Study Finds: http://bit.ly/hrYKX6
• Beyond drugs, devices & diagnostics there is “healthtech” (or the other 84% of healthcare): http://bit.ly/eLfiyA
• CollabRx Snags ASCO Partnership: http://bit.ly/eoRWPs by @ldtimmerman
• RT @daphnezohar: Pharma must innovate out of current predicament w/ new models according to @burrillreport: http://fb.me/WcJe06ka
• The @CompleteGenomic blog follows @iontorrent anti-$ILMN ad campaign as evid that WGS isn’t just for big centers anymore.
• RT @dgmacarthur: I’ll be keeping an eye on new corporate blog of @CompleteGenomic: http://bit.ly/e3J1Dz The authors are interesting guys.
• Overview of compromise FY11 budgets for science agencies: http://bit.ly/fNCo6I $260M haircut for NIH not good, but better than $1.5B
• As for GnuBio: RT @dgmacarthur: GnuBio a serious new player in seq? Maybe once they’ve sequenced more than 126 bases: http://bit.ly/hPvYsc
• Update from @Ryan_McBride on cancer diagnostic firm On-Q-ity, next-gen sequencer GNUBio, others: http://bit.ly/g30EZx
• Ditto (+ @DNAlawyer, @SmartPlanet & @san_bas as well) RT @drjonboyg: Good to see @genomicslawyer and @MishaAngrist this evening.
• Registration open for “DNA Ethical Dilemmas” w/ @amy_harmon of NY Times: http://bit.ly/bqCbOC I’m talking abt DTC & other topics on 5/19
• Eric Green: NHGRI needs to contemporize its ELSI research #ELSI11 http://t.co/WNIza6i
• FDA considering whether to regulate EHRs as medical devices: http://bit.ly/fCwn5M Another ex of difficulty of applying device regs to info.
• The Kinsella Debate Continues over Pharma versus Biotech, Worlds in Collision: http://bit.ly/fBWPHZ by @BVBigelow cc @JCainHart
• Congress getting ready to hold another round of hearings on medical device regulation: http://bit.ly/eACrmj @MassDevice
• RT @bmahersciwriter: Fabry’s patients again lobbying NIH to grant ‘march in’ rights on Fabrazyme patent. http://bit.ly/gZh1rj (1of2)
• Starts tomorrow. RT @drjonboyg: Not only will I be tweeting from #ELSI11, so will @genome_gov, who you should follow.
• RT @crossborderbio: House version of patent reform makes changes of concern for biotech & pharma, may delay passage http://bit.ly/gQyKLM
• Very interesting. Implications far beyond law. RT @NatureNews: Hungry judges dispense rough justice http://goo.gl/fb/sOaun
• A complete transcript of last month’s #FDADTC meeting is now available: http://bit.ly/eCuBfl HT to @shwu for locating it.
• Thx for having me! RT @JamesRLawrence3: @genomicslawyer Thanks for coming to speak to our PR/Law Firm class at the UNC School of Law!
• RT @pgx_reporter Myriad to Perform BRCA Companion Dx Testing for BioMarin’s PARP Inhibitor BMN 673: http://bit.ly/g752wq
• Preview of @Sagebio’s vision for a genomic commons ahead of #sagecon this Fri/Sat: http://bit.ly/fx98ey by @ldtimmerman
• RT @Ryan_McBride PatientsLikeMe opens its patient social network to people with all diseases http://bit.ly/e6xwIu
• RT @Ryan_McBride: I’m now editing FierceBiotechIT, joining Fierce as full-time editor next month! http://bit.ly/e6D6yR
• RT @JohnCFierce: Classic Third Rock startup: Substantial cash, top minds, forward-thinking development strategy. http://bit.ly/edmncy
• RT @mikesgene: DNA collection to intimidate unions – in South Korea http://bit.ly/h4grhj #GE3LS #bioethics #genome
• New pricing: $9/mo, nothing up front. RT @CeCeLMoore: Sale @23andMe tomorrow! http://tinyurl.com/3hjwjzm
• Interest != availability MT @PathwayGenomics: Australian consumers cld soon be buying food/drink based on genetics. http://cot.ag/ho7Qkl
• RT @wilbanks: startup idea in health? @Rock_Health is providing grants, office space, and time with mentors (like me!) http://bit.ly/i4X7sx
• RT @dgmacarthur: DNA hacking – short piece on the potential risks and benefits: http://bit.ly/dLMIfm (via @sociallifeofdna)
• WSJ, Senate seeking to overturn rule barring public disclosure of what MDs earn from Medicare: http://on.wsj.com/hiKeAM HT @tgoetz
• RT @JCainHart US-Chinese Therapeutics Fund raises $100M, US base in Chapel Hill – http://bit.ly/hV3ZA0
• Another effect of gov’t shutdown: SEC to skeletal staff, all IPO processing stops: http://nyti.ms/efsPq0 cc @JCainHart
• Sequencing ad wars: sign of things to come as prices fall, # of buyers rise? MT @dgmacarthur Ion Torrent’s attack ad: http://bit.ly/fLmFU9
• RT @dgmacarthur: How big pharma execs are killing their own companies: http://bit.ly/foITo6 (via @tgoetz, @wilbanks)
• Shutdown will leave NIH w/ 982 employees to oversee 281 bldgs valued @ $15B. Guess that’s one form of small government http://bit.ly/fPtIXH
• Wonderful high-level overview, incl. what happens at NIH, FDA: RT @NatureNews US shutdown: a scientist’s guide http://goo.gl/fb/RhUJz
• Glad to see @BoraZ yesterday, even if only out my car window while driving between Chapel Hill and Durham. #15-501
• RT @ASCOPost Fifth FDA Clearance Granted for MammaPrint Assay http://ow.ly/4v9mF
• GLR Post: UK Insurance Genetics Moratorium Renewed & Breast Cancer Patents, Research in the News: http://bit.ly/emplMd

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.

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.

Meggan Bushee is a student at the

This past May, Congressman Patrick Kennedy (D-RI) and Congresswoman Anna Eshoo (D-CA) re-introduced a personalized medicine bill to the U.S. House of Representatives. The bill was originally introduced in 2006 by then-Senator from Illinois Barack Obama. While HR 5440, also known as the Genomics and Personalized Medicine Act of 2010 (GPMA 2010), has retained the name of the bill originally introduced by Senator Obama, its approach to the regulation of personalized medicine has taken a new direction.

GPMA 2010 is the fourth version of the GPMA since the original bill of 2006, and includes the most ambitious initiatives of all of its predecessors. Why has the GPMA re-surfaced after three prior versions failed to make it out of committee? According to Representative Kennedy, the bill has been re-introduced in response to increased public awareness and use of genomic tests. At present, GPMA 2010 is before the House Committee on Energy and Commerce. This is the same committee that recently conducted high-profile hearings to review the current state of the direct-to-consumer (DTC) genetic testing registry.

As the tools of personalized medicine, including genetic testing, have become both less expensive and more powerful, calls for expanded oversight of the field have intensified, particularly in the area of DTC genetic testing. While there is a pressing need for appropriate regulation to protect the consumers and patients targeted by personalized medicine, there is an equally pressing need to avoid crafting a system of oversight that will be an obstacle to continued growth and innovation. The current version of the GPMA aims to strike a balance between consumer protection and flexibility to allow for innovation.

This post outlines the material provisions of GPMA 2010 and examines the transformation the bill has undergone since it was first introduced in 2006.

The GPMA Defines Itself. The stated aim of the Genomics and Personalized Medicine Act is:

To secure the promise of personalized medicine for all Americans by expanding and accelerating genomics research and initiatives to improve the accuracy of disease diagnosis, increase the safety of drugs, and identify novel treatments, and for other purposes.

Interestingly, GPMA 2010 is the first iteration of the GPMA to formally define the term “personalized medicine.” However, the bill limits its definition of “personalized medicine” to:

any clinical practice model that emphasizes the systematic use of preventive, diagnostic, and therapeutic interventions that use genome and family history information to improve health outcomes.

It’s a broad definition, but is it broad enough? Conspicuously absent from the definition is any mention of environmental information, a category that is increasingly recognized as critical to the understanding and management of complex and common traits and diseases.

Despite its narrow definition of personalized medicine, GPMA 2010 includes several expansive initiatives. GPMA 2010 would appropriate $150 million for fiscal year 2011 to accomplish these initiatives, including the creation of an Office of Personalized Healthcare and several committees to address translational challenges of personalized medicine, the standardization of the collection of human biological samples, the funding of further research and education on personalized medicine, and the creation of a national biobank.

In order for those initiatives to bear fruit, the GPMA, should it proceed, is likely to find itself in need of a similarly expansive definition of personalized medicine.

The OPH: Coordinating Personalized Medicine. GPMA 2010 would create an Office of Personalized Healthcare (OPH) within the Department of Health and Human Services (HHS). The OPH would have two main roles: (1) to oversee the implementation of GPMA 2010’s initiatives, and (2) to coordinate the activities of various federal agencies and private and public entities. To fulfill these roles GPMA 2010 would appropriate $5,000,000 for fiscal year 2011, and “such sums as may be necessary” for later years.

The OPH is a new addition to the GPMA since its previous version in 2008. Prior to GPMA 2010, the GPMA provided for the establishment of an Interagency Working Group (IWG), an initiative that was first introduced in the 2006 bill. The IWG had goals similar to those of the OPH, but had few specific responsibilities. The IWG was mainly responsible for meeting twice a year and submitting a report every two years on IWG activities. The OPH, on the other hand, would be more directly involved in directing the expansion and acceleration of research, and signifies a large departure from all prior GPMA bills.

Among other responsibilities, the OPH would be tasked with the development of a long-term plan to accelerate the research and development of personalized medicine products. Each year the OPH would issue a report discussing not only progress within personalized medicine research, but also the challenges that the OPH has identified and is currently addressing. This provides a case in point for how the narrow definition of “personalized medicine” in the bill might affect the implementation of the GPMA. To use our example, if the role of environmental factors is not included in the definition, the OPH’s long-term plan might not take adequate account of the need to utilize environmental data in developing effective personalized medicine products.

Importantly, as presently drafted, the OPH would also be responsible for recommending which personalized medicine products should be regulated, and what roles and responsibilities should be assigned to the Food and Drug Administration (FDA) as opposed to the Centers for Medicare & Medicaid Services (CMS). Presumably this would include weighing in on areas where those two agencies’ regulatory authority appears to overlap, including the regulation of laboratory developed tests. Here again, the act’s definition of “personalized medicine” makes a difference.

GPMA 2010 recognizes the need for greater cross-agency coordination and for a centralized task force to direct the implementation of GPMA initiatives. One ongoing concern is that the development of personalized medicine and its translation to clinical practice will be hampered by redundant and inconsistent oversight at the hands of multiple, overlapping regulatory bodies. The OPH would address this concern, at least in theory, by assigning regulatory authority for personalized medicine products, clarifying and simplifying existing regulations, and providing a clear delineation between the roles and responsibilities of the FDA, CMS and other regulatory agencies. The key question, however, is whether adding a new agency (OPH) to the personalized medicine mix would bring much-needed coordination and strategic vision to the field, or whether it would simply add another layer of confusion and bureaucracy.

A National Biobank. Similar to the biobank initiatives in all three previous versions of the GPMA, GPMA 2010 would create a national biobank to collect and integrate human biological specimens and biobank data. As defined by GPMA 2010, “biobank data” includes health information, demographic genotype, molecular profile data, and (despite being excluded from the definition of “personalized medicine”) environmental data.

If implemented, GPMA 2010’s national biobank would not be the first of its kind in this world. Several countries, including the United Kingdom, Japan, Sweden, Finland, and Iceland have already undertaken similar biobanking initiatives. While the United States has many smaller public (at both the state and federal level) and private biobanks, the GPMA would authorize NIH to coordinate the first truly national biobank. Depending on how swiftly the biobank was created, and whether it incorporated samples from previously existing public or private biobanks, it might quickly become one of the largest repositories of biological specimens and data in the world.

While the implementation of the biobank would be left to the Director of the NIH (currently Francis Collins), working in coordination with the Centers for Disease Control and Prevention (CDC), GPMA 2010 does provide a basic framework. The Director of NIH would be responsible for coordinating the activities of the national biobank with the other public and private biobanks and genomic databases in the United States and developing guidelines to “safeguard[] the privacy of…biobank data.” The Director would also be tasked with addressing ownership and patient access issues and investigating new models of informed consent that balance privacy, risk disclosure and the need for long-term and open-ended research, a task that has recently been shown to be particularly challenging.

One inevitable challenge in implementing a truly national biobank populated with broadly characterized specimens will be funding. To establish the national biobank and fund a related grant program, GPMA 2010 would appropriate $150,000,000 for fiscal year 2011, and “such sums as may be necessary” for later years. While the biobank’s data and specimens would be made available to both government and non-governmental entities, it is unclear whether non-governmental entities would bear some portion of the cost of the biobank.

Is $150 million and the vague promise of more to come sufficient for a biobank of such ambition? By way of comparison, while the initial appropriation, as currently drafted, would be larger than the amount used to catalyze the UK’s national biobank in 2006, which collected £62 million from a variety of funding sources, including the Wellcome Trust, the UK’s largest non-governmental source of biomedical funding. For the GPMA’s national biobank to succeed, similar private funding commitments might well be a prerequisite.

The various incarnations of the GPMA have fluctuated in their treatment of race. The 2006 GPMA had an entire section dedicated solely to “Race and Genomics,” and included several initiatives aimed at including minority populations in genomics research and in improving minority populations’ access to genetic services. The 2010 bill lacks the separate section, but does instruct the Director of the NIH to develop guidelines to “ensure the inclusion of underrepresented populations with health disparities in the activities of the national biobank.” That is itself a departure from the 2008 version of the GPMA, which did not specifically mention minority or underrepresented populations at any point. The role of minority or underrepresented populations in genomic research, and the appropriateness of personalized medicine tools and products for minority or underrepresented populations, was an issue that came up several times at last month’s Congressional hearing on DTC genetic tests, and it is one that would be likely to play a central role in any future Congressional discussion of the GPMA and a national biobank.

The GPMA and DTC Genetic Testing. GPMA 2010 directs the FDA to collaborate with the FTC to “identify and terminate…advertising campaigns that make false, misleading, deceptive, or unfair claims about the benefits or risks of products used for personalized medicine.” While similar consumer protection provisions existed in prior versions of the GPMA, the scope has been expanded in the current version of the bill to apply to advertising and marketing of any personalized medicine product (previous versions focused solely on genetic tests).

Events may have overtaken this proposal, however. Last month’s Congressional hearing and GAO report (pdf) highlighted “misleading test results” and “deceptive marketing and other questionable practices” on the part of DTC genetic testing companies. The report was forwarded to the attention of both the FDA and the FTC and, in its aftermath, it seems unlikely that it will take the passage of new legislation for those two agencies to begin working together to more aggressively police the personalized medicine marketplace.

Interestingly, a separate provision of GPMA 2010 would instruct the CDC, the FDA and the FTC to work together to “conduct an analysis of the public health impact” of “products used for personalized medicine (including genetic and genomic tests) for which consumers have direct access” and to do so “to the extent possible from available data sources.” The joint agency initiative would also “analyze the validity of claims made in [DTC] marketing” and “make recommendations…regarding necessary interventions to protect the public from potential harms” of DTC marketing and access to personalized medicine products. While such an undertaking might appear redundant with the GAO’s recently-concluded investigation, the GAO’s report was an admittedly unscientific snapshot of the field (“GAO did not conduct a scientific study but instead documented observations that could be made by any consumer.”), for which it has been frequently criticized. While a more comprehensive and data-driven analysis of the field would be welcome, recent events suggest that agencies such as the FDA are likely to proceed with additional DTC regulatory oversight on the basis of the data (or lack thereof) currently at hand.

Expanding the Role of Companion Diagnostics and Pharmacogenomics at the FDA. Another provision targeted at the FDA would permit the agency, under certain circumstances, to “require the sponsor of a drug or biological product” (emphasis added) to develop a companion diagnostic test in connection with regulatory filings for a new drug. This provision was originally included in the 2006 bill, but was removed in the 2007 and 2008 versions. Those versions merely permitted the FDA to recommend companion diagnostic development to drug and products sponsors.

The 2010 GPMA also instructs the FDA to “clarify and issue guidance” that explains when companion diagnostics will be included in labeling – including appropriate “standards of evidence…such as with respect to the analytical validity, clinical validity, clinical utility, dosing, adverse events, and drug selection…” – and when such tests will be either recommended or required.

In many respects these provisions of the GPMA seem to reflect the increasing reliance on genomic and genetic data in selecting and administering therapeutics, including the use of companion diagnostic tests.

Where Will the GPMA Go From Here? While GPMA 2010 itself represents a significant departure from the bill originally introduced by Senator Obama in 2006, it is exceedingly unlikely to become law in its current form. Among other considerations, the recent (and ongoing) developments in the areas of laboratory developed tests (LDTs) and DTC genetic testing – two important components of personalized medicine – suggest that substantial revisions would be required to reflect an ever-changing technological, commercial and regulatory environment.

At least for the moment, passage of the GPMA in any form does not appear to be imminent. Perhaps it will never become law – at least in anything like its current form – and either existing legislation or other contenders, such as Senator Hatch’s proposal to create a new regulatory category for “advanced personalized diagnostics” – will be used to fill gaps in the oversight of personalized medicine products. Then again, recall that crafting legislation to respond to the successes of modern science and technology can be a painfully slow process. For instance, the only piece of federal legislation specifically directed at genetic technologies and information, the Genetic Information Nondiscrimination Act (GINA), took thirteen years from the date it was first proposed to its signing into law in 2008. After a mere five years, the GPMA likely has a long way to go.

As we’ve previously discussed, a partial match between two DNA profiles may indicate that the donors of the corresponding samples may be related. In familial searching, a database is searched for the purpose of identifying partial, rather than exact, matches against the sample of unknown origin. Those partial matches are then used as investigatory leads.

Though familial searching has been used with some success in other countries, few states openly endorse its practice. Those states that permit the use of partial matches at all generally prohibit the intentional search for those matches, requiring instead that they be discovered inadvertently. California began using familial searching in 2008 in a first attempt to identify the Grim Sleeper. At the time, the failure to produce a suspect was seen as a strike against the technique: if familial searching could implicate privacy concerns and subject innocent individuals to excessive genetic surveillance, it certainly could not be justified without being able to point to positive results.² Since then, one DNA profile of particular interest was added to California’s database: that belonging to the son of the man now identified as the Grim Sleeper.

While these concerns—which focus on the broad impact of sustained, widespread familial searching—cannot be overcome simply by reference to discrete cases, the procedure followed by the DNA laboratory that conducted the tests in this case seems to have at least helped to assuage the critics. As discussed by Maura Dolan in the Los Angeles Times, the ACLU of Southern California endorsed the procedure utilized by the investigative team, which included control of the investigation by a “familial search committee.” For instance, unanimous approval of the committee was required both before the name of the partial match donor was released to the Department of Justice and before the name of the suspect and the supporting DNA findings were released to the Los Angeles Police Department.

The capture of a high-profile serial killer will likely spur public opinion in support of familial searching. The fact that the ACLU (which is the motivating force in a lawsuit challenging another of California’s controversial DNA practices, the collection of DNA samples from individuals upon arrest) has endorsed the practice used by the state in achieving the arrest is likely to garner additional attention. We’ll keep you updated as more jurisdictions explore the possibility of implementing formal policies concerning familial searching.

[Update 7/15: The ACLU attorney quoted in Dolan's LA Times article has contacted the GLR to clarify that they do not "endorse" familial searching. Instead, the ACLU believes that the procedures used in familial search investigations deserve statutory protection and additional oversight, which they argue for in a post on their own blog.]

__________________

¹ He has since been charged with 10 counts of murder, with the arraignment scheduled for August 9. At this point, the presumption of innocence must be respected. The material contained in this post is intended for discussion purposes only and should not be construed as an opinion on the guilt or innocence of the individual charged.

² As detailed in an earlier post, one common concern voiced by critics of familial searching is that because minorities are disproportionately represented in DNA databases they would in turn be disproportionately implicated by the results of familial searching.

But once DNA samples are collected, when are they actually analyzed? As discussed by Christopher Heaney and Sara Huston Katsanis in The Contra Costra Times, many states currently have considerable backlogs in testing DNA samples, including those collected from convicts, arrestees and victims. Katie’s Law, by increasing the number of samples that require analysis, is likely to exacerbate these backlogs. Worse yet, Heaney and Katsanis point out that other federal funding awards are determined by the size of a state’s backlog—the larger the backlog, the more funds the state can receive. While the intent of Katie’s Law is to expedite the delivery of justice, there is concern that its practical effect may indeed be just the opposite.

A direct, Constitutional challenge to the practice of taking and retaining arrestee DNA samples, led by the ACLU, is currently wending its way through the Federal court system. The Ninth Circuit Court of Appeals is scheduled to hear oral arguments (pdf) in that case (Haskell v. Brown) next week and the Genomics Law Report will continue to provide updates as this issue develops.

On May 18, the House of Representatives passed the Katie Sepich Enhanced DNA Collection Act of 2010, informally known as Katie’s Law.¹ Under the bill, those states that collect DNA from individuals arrested for certain serious crimes (murder, voluntary manslaughter, serious sexual offenses or serious kidnapping offenses) and compare the samples to those in the CODIS database at least once receive a 5% bonus on certain federal crime prevention grants.² States that also collect samples from individuals arrested for less serious crimes and submit all profiles collected from arrestees for inclusion in CODIS would instead receive a 10% bonus. The bill is now with the Senate Committee on the Judiciary.

Weighing the Constitutionality of Arrestee Collection. But is the practice of compulsory arrestee DNA collection constitutional? To date, most challenges to DNA collection have involved convicts, not arrestees. The few cases dealing with arrestees have not reached consistent results—the federal law has been both upheld and struck down, and state courts in Minnesota and Virginia have also reached opposite results.³ A brief look at the methodology accepted by four courts illustrates how these disparate results occur.

In these four cases, the courts employed a balancing test that weighs the government’s interests in collecting DNA from arrestees against the privacy interests of those arrestees. The different outcomes can be attributed to the weight that the courts give the individual factors. The courts that have upheld arrestee DNA collection have generally adhered to the position that DNA collection, at least in this context, is akin to the accepted practice of taking fingerprints.⁴ Because the government’s interests (e.g., ensuring that law enforcement has properly identified the arrestee, determining whether there are outstanding warrants for the arrestee and collecting evidence to facilitate re-capture in the event that the arrestee should escape or flee) are sufficient to justify fingerprinting the arrestee, these courts believe that DNA collection is similarly justified.

By contrast, courts that have struck down arrestee DNA collection emphasize the privacy interests of the arrestee. For these courts, cases permitting DNA collection from convicts are not persuasive because arrestees, unlike convicts, have not been through a judicial process and do not have diminished expectations of privacy.⁵ Indeed, under the Katie’s Law bill, for a state law to qualify for the federal incentives, it would be required to allow acquitted individuals to have their profiles removed from CODIS. Minnesota’s statute contained such a provision, which the Minnesota Court of Appeals addressed in striking down the law. The court reasoned that, by including the provision, the legislature signaled that the privacy rights of an individual who has not been convicted outweigh the government’s interests. This is a curious example of a court deriving a legislature’s policy position from the very statute that it finds to be in violation of that policy. In any event, under this line of analysis, if an arrestee has not suffered a diminished expectation of privacy, his privacy interests outweigh the government’s law enforcement interests.

A Direct Challenge to Katie’s Law. Each case described above has arisen in the context of an individual convicted of one offense based on DNA evidence obtained when the individual was arrested for a separate offense. Accordingly, it is the act of collecting the DNA sample upon arrest that serves as the critical point in the analysis. As such, the cases do not address the entry and retention of the DNA profile in CODIS.

In Haskell v. Brown, however, the ACLU has squarely addressed those issues in the context of its challenge to California’s version of Katie’s Law. This case, which is currently awaiting argument before the Ninth Circuit Court of Appeals, does not stem from a conviction achieved on the basis of DNA collected from an arrestee. Instead, the ACLU’s case challenges the very act of taking and retaining DNA samples in CODIS. In Haskell, the named plaintiffs were arrested and compelled to submit DNA samples for checks against CODIS. The searches did not result in any database hits. One of the plaintiffs was not charged with a crime. The ACLU has sought a declaratory judgment that the California version of Katie’s Law is unconstitutional, as well as preliminary injunction prohibiting California from collecting DNA samples from arrestees. The case has survived a motion to dismiss and obtained class certification. The District Court for the Northern District of California, however, denied the ACLU’s motion for a preliminary injunction, and the ACLU has appealed that denial to the Ninth Circuit.

As part of Ninth Circuit’s decision on the preliminary injunction, it will probably evaluate the likelihood of the ACLU succeeding on the merits of its claim for declaratory relief. Accordingly, while the panel’s decision likely will not dispose of the ACLU’s claims, the reasoning behind that decision should serve as a useful indicator of how a circuit court of appeals views the constitutionality of the procedures included in Katie’s Law. Further, because the case does not arise as a challenge to a criminal conviction, the court will be able to evaluate the legal arguments without the possibility of a conviction being overturned. In the coming months, we’ll follow this case and the legislative progress of the federal version of Katie’s Law, as well as providing a more in-depth look at the court cases that will serve as a backdrop to the national debate regarding arrestee DNA collection.

_______________

¹ The bill passed under a suspension of the rules, meaning that it was subject to severely limited debate, but required a 2/3 majority to pass. After 25 minutes of debate, the measure passed the house by a vote of 357 to 32.

² The incentives are based on the Edward Byrne Memorial Justice Assistance Grant (“Byrne JAG”) that states receive. For reference, in 2009, California received about $135 million in Byrne JAG grants; New York received $67 million. A complete state-by-state list is available here (pdf).

³ Minnesota and Virginia have each reviewed their state laws: Minnesota found its law unconstitutional, while the Court of Appeals of Virginia upheld its law. Meanwhile, the Eastern District of Pennsylvania has found that the federal law is unconstitutional, while the Eastern District of California has upheld that same statute.

⁴ The Supreme Court of Virginia has stated: “A DNA sample of the accused taken upon arrest, while more revealing, is no different in character than acquiring fingerprints upon arrest.” Anderson v. Commonwealth, 650 S.E.2d 702, 705 (Va. 2007).

⁵ In response to the state relying on cases upholding DNA collection from convicts, the Court of Appeals of Minnesota has noted that “the reduced expectation of privacy that was present in the cases the state cites is not present here.” In re C.T.L., 722 N.W.2d 484, 491 (Ct. App. Minn. 2006).