According to Ray, SACGHS members were notified this week that Secretary Sebelius and NIH Director Francis Collins had determined that “the major topics related to genetic and genomic technologies had been successfully addressed by the committee through its comprehensive reports and recommendations over the years” and, for that reason, the decision was made “to sunset the committee’s charter.”

A Decade of Discussion. The SACGHS was first established by HHS eight years ago (pdf) to “provide a forum for expert discussion and deliberation…on the range of complex and sensitive medical, ethical, legal and social issues raised by new technological developments in human genetics” and assist policymakers at HHS and other federal agencies in addressing those issues. The committee’s charter, which was last renewed in 2008 (pdf), includes “assessing how genetic technologies are being integrated into health care,” “examining current patent policy and licensing practices” and “analyzing uses of genetic information in education, employment, insurance…and law.”

Over the past eight years, as the range of genetic technologies and information has expanded dramatically, SACGHS has tackled all of these issues, along with many others. Some of the committee’s most significant undertakings included (1) repeated efforts to encourage the passage of the Genetic Information Nondiscrimination Act (GINA) (see here, here and here), (2) a 2008 report on the U.S. System of Oversight of Genetic Testing (pdf), (3) a 2010 report on Gene Patents and Licensing Practices and Their Impact on Patient Access to Genetic Tests (pdf) and (4) a 2010 report on Direct-to-Consumer Genetic Testing (pdf).

Although advisory in nature, the committee’s activities have had a noticeable impact on genetic law and policy in recent years. While far from GINA’s only advocate, SACGHS’s continued support helped to ensure the law’s ultimate passage in 2008. The committee’s 2008 report on the regulation of genetic testing has been widely cited by lawmakers and policymakers, particularly those seeking to reform or extend the current system of oversight. Its 2010 gene patenting and licensing recommendations, along with coverage of the ongoing Myriad gene patent litigation, continues to spur public and private debate about whether and how to redesign the biotechnology patent regime. And its most recent report, on direct-to-consumer (DTC) genetic testing, while largely obscured by other contemporaneous developments within the DTC industry, may well serve as a roadmap for future industry oversight by the Food and Drug Administraton (FDA), Federal Trade Commission (FTC) and other regulatory bodies.

A Challenge for the Next Decade. The central role that SACGHS has played in analyzing the ever-expanding range of ethical, legal and social issues presented by genetic and genomic technologies, and in formulating policy suggestions to address those issues, makes the decision by Sebelius and Collins to disband SACGHS curious, to say the least. According to Ray, Collins was scheduled to provide a more complete explanation to the committee of “why he and [Secretary Sebelius] believe that the committee has accomplished its mission…” We hope that either Collins or Sebelius will choose to share their thinking more broadly.

No matter the rationale, it is clear that even those issues SACGHS investigated in detail have not been resolved with any meaningful degree of finality. GINA, while finally law, is still being implemented by regulatory agencies, and significant enforcement has yet to occur. Regulatory agencies have only recently begun to implement new policies (e.g., the NIH’s announcement that it is developing a voluntary Genetic Testing Registry and the FDA’s proposal to commence risk-based regulation of all laboratory-developed tests (LDTs)) designed to close the gaps in genetic testing oversight identified by SACGHS more than two years ago. The issues identified in the committee’s two most recent reports – on gene patents and DTC genetic testing – have yet to be meaningfully addressed by federal agencies, and represent some of the most contentious issues in genetics law and policy today.

What’s more, the pace of technological development is not slowing and it is difficult to see how anyone could suggest that SACGHS has sufficiently investigated all or even a majority of the important issues attendant to genetic technologies. Coming advances in genomic sequencing promise to make genetic data increasingly inexpensive and available, bringing to the fore new questions about genomic privacy, reproductive genetic technologies and access and affordability, along with many others, including crucial issues we cannot predict today. Indeed, SACGHS recently formed a task force to study the implications of whole-genome sequencing, although it is unclear whether the committee will have the opportunity to pursue that investigation to its conclusion.

In the eight years since SACGHS’s inception, we have seen significant scientific advances, and these have in turn produced an impressive range of associated ethical, legal and social issues. As we head into a second decade of increasingly personal genomic science and services, there is every reason to expect that as our technological capabilities expand, so too will the number and complexity of issues we are forced to address. Our challenge is to continue to develop legal and policy strategies that are reflective and not reactionary – strategies that ensure the safety of individuals while encouraging the innovation necessary to realize the promise of personalized medicine. We hope that the announced disbanding of this experienced and distinguished committee does not signal a declining commitment on the part of Secretary Sebelius or Director Collins to this challenge.

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.

This morning the NIH announced plans to create a publicly accessible registry of genetic tests.  The Genetic Testing Registry (GTR) is expected to be available in 2011 and will contain information voluntarily submitted by genetic test providers.  The news is significant and carries implications for clinical genetic testing laboratories, personal genomics service providers and individual purchasers of genetic tests.

Many details of the GTR are yet to come, with NIH promising to “engage stakeholders – such as genetic test developers, test kit manufacturers, health care providers, patients and researchers – for their insights on the best way to collect and display test information.”  While the GTR isn’t expected to launch until next year, and there is time to fill in the details, the questions and answers section of the GTR’s new website helpfully addresses several of the most important features of the registry.

This post looks at what we know about the GTR today, and considers what the GTR’s ultimate implementation might mean for the development and regulation of genetic testing.  (Note that the inset orange questions, and the text that immediately follows each question, is taken directly from the GTR question and answer page.)

Background Reading: the SACGHS Recommendation.  As a matter of background, the announcement of the GTR is important, but not surprising.  The past several years have seen a number of individuals and organizations advocate for a genetic test registry.  Many of these are summarized on the GTR’s background reading page, with the most prominent being the report by the Secretary’s Advisory Committee on Genetics, Health, and Society (SACGHS) titled “U.S. System of Oversight of Genetic Testing” (pdf).  The report, which was published in April of 2008, is a comprehensive review of the genetic testing landscape.  Included among its several policy recommendations was the following:

To enhance the transparency of genetic testing and assist efforts in reviewing the clinical validity of laboratory tests, HHS should appoint and fund a lead agency to develop and maintain a mandatory, publicly available, Web-base registry for laboratory tests.

As the SACGHS report and the GTR announcement both point out, the recent proliferation of genetic tests and genetic testing laboratories has made it difficult for stakeholders – including healthcare payors, healthcare providers, patients and consumers and even genetic test providers themselves – to keep track of all of the available tests.  The GTR announcement represents a first attempt to address that problem.

An Opt-In Approach (Voluntary vs. Mandatory).

Is participation in the GTR mandatory?

No. Participation in the Registry is not mandatory. Providers of genetic tests are encouraged to submit test information voluntarily.

That the GTR is voluntary, and not mandatory, is without question its most significant departure from the SACGHS recommendations.  In preparing its recommendation the SACGHS specifically addressed this issue:

…SACGHS reviewed proposals for a voluntary or mandatory test registry and considered the benefits and burdens of each type of system.  The committee decided that a mandatory, publicly available, Web-based registry that is well staffed to maintain an accurate and current database would offer the best approach to addressing [the] information gaps in the availability of tests and their analytical and clinical validity.

Although the SACGHS report acknowledged that “short-term voluntary approaches” to test registration might be appropriate, it also clearly indicated that the fundamental objective was the creation of a permanent and mandatory test registry.

This important distinction has not been lost on others.  In a press release celebrating the GTR, the advocacy group Genetic Alliance (whose founder, Sharon Terry, has been one of the most outspoken advocates for a mandatory registry, including making the case several months ago in this very space) applauded the NIH’s announcement while simultaneously looking forward “to the registry becoming mandatory so that we are all apprised of the quality and availability of genetic testing across the nation.”

Another long-time advocate of a mandatory genetic test registry (see here, here and here) is new NIH chief of staff Kathy Hudson, who is without question one of the key figures behind today’s announcement.  According to ScienceInsider, “Hudson once pressed for a mandatory registry, but admits it’s not clear whether NIH has the authority to require that companies submit data on their tests.”  The NIH may not have the authority, but it is working together with the FDA and CMS to implement the GTR (more on this below), and both of those agencies have much more clearly established authority to directly regulate genetic testing companies.

While there’s no obvious indication that the GTR is intended to be an interim stop on the road to a mandatory test registry, such a conversion is certainly a possibility at some point in the future, particularly if the GTR proves successful but ultimately incomplete in a voluntary iteration.

A Limitation on Included Tests (Laboratory Tests vs. Genetic Tests).

What is the scope of the GTR?

The GTR will collect and provide information on genetic tests. A more precise scope will be determined after gathering input from the stakeholder community. In the interim, the working definition of a genetic test for purposes of the GTR is, “a test that involves an analysis of human chromosomes, deoxyribonucleic acid, ribonucleic acid, genes and/or gene products (e.g., enzymes and other types of proteins), which is predominantly used to detect heritable or somatic mutations, genotypes, or phenotypes related to disease and health.”* The definition of genetic test is expected to evolve over time, as laboratory technologies are rapidly increasing and changing, and GTR will continue to engage with the community on this issue.

* From the HHS Secretary’s Advisory Committee on Genetics, Health and Society 2008 Report, U.S. System of Oversight of Genetic Testing: A Response to the Charge of the Secretary of Health and Human Services.

The other key difference between the GTR announcement and the SACGHS recommendation is the limited scope of the registry.

In its letter to the Secretary of HHS that prefaces the report, the SACGHS task force acknowledged that, while it had been charged with investigating the oversight of genetic tests, it had concluded that “the concerns associated with genetic testing generally do not differ from other complex laboratory tests.”  In reviewing the issue the SACGHS task force rejected the idea that genetic tests were fundamentally different from other complex laboratory tests – including tests for cholesterol levels or HIV-status – and determined that this form of “genetic exceptionalism” could lead to unwarranted distinctions in regulation or policy.  As a result, the SACGHS recommendation declared that “since genetic tests are not different from other laboratory tests for oversight purposes, the registry should include all laboratory tests.”

However, the SACGHS report also recognized that “implementing an expansion of Federal oversight of laboratory tests will require incremental steps and that, in this context, genetic tests should have the highest priority.”  It would appear that the NIH has reached the same conclusion in choosing to focus the GTR solely on genetic tests.

Who Does the GTR Cover (Clinical, Commercial, Research)?

Who can contribute test data to the GTR?

It is expected that all providers of genetic tests will be able to submit information to the GTR on a voluntary basis. Providers of genetic tests may include clinical laboratories, test manufacturers, entities that report and interpret tests performed elsewhere, and laboratories outside the United States.

The scope of the genetic test providers encouraged to submit data to the registry is quite broad, if not quite as explicit as might be hoped.

Clinical laboratories are specifically included, as are “entities that report and interpret tests performed elsewhere.”  Together, these categories appear to cover most of the reputable direct-to-consumer (DTC) genetic test providers, which either operate their own CLIA-certified laboratories (e.g., Pathway Genomics) or contract with CLIA-certified testing labs to conduct the actual testing, with the interpretation of the test supplied by the DTC company (e.g., 23andMe).  Although not mentioned by name, it seems clear that the GTR is intended to serve as a repository for information about DTC genetic tests as well as the numerically more common clinical laboratory genetic tests.

Less clear is the status of genetic tests performed in laboratories that are not CLIA-certified.  For instance, certain genetic research laboratories may be too small to have applied for CLIA certification.  This example is one where the substitution of “can” for “must” in the design of the GTR is significant.  The effectiveness of the registry as a tool for accurately mapping the landscape of genetic test providers will remain limited for as long as the GTR remains voluntary.

Is Collaboration a Sign of Future Regulation?

Is NIH collaborating with other HHS agencies in the development of the GTR?

Yes. NIH is working with the Food and Drug Administration and the Centers for Medicare & Medicaid Services (which enforces regulations based on the Clinical Laboratory Improvement Amendments) to streamline the process of data submission for test providers who may be required to provide similar information to these other HHS agencies.

At this point we begin to drift into the realm of hints and speculation, reading between the lines to see if there are any clues as to how the GTR might develop over the next 12-18 months, and whether this announcement portends any further regulation in the area of genetic testing.

First, it’s not surprising that the NIH is working with the FDA and CMS to develop the GTR and “streamline the process of data submission for test providers.”  Indeed, anything other than close collaboration between those three agencies would be a huge mistake, as each plays a pivotal role in the support and regulation of genetic testing.

The relevant inquiry is not whether the agencies are collaborating, but whether that collaboration is a precursor of a more comprehensive system of regulation for genetic testing.  There’s no answer to that question, but the nature of the information that will be included in the GTR does provide grist for the speculation mill.

What type of information can be submitted to the GTR?

It is anticipated that a wide variety of information will be collected in the GTR. NIH plans to seek input from all interested stakeholders to help identify the desirable data elements. The aim of the Registry is to provide information regarding the breath [sic] of available genetic tests—including what tests are available, indications for testing, and who offers the tests—and quality measures such as analytical validity, clinical validity, and clinical utility.

The focus on quality measures – analytical validity, clinical validity, and clinical utility – is particularly interesting.  The regulatory landscape surrounding genetic tests is neither simple nor uniform (which is why the SACGHS report runs to nearly 300 pages).  It is a patchwork quilt of overlapping federal and state regulations, industry self-regulation and indirect regulation (e.g., demands by payors that genetic tests prove both accurate and useful).

The SACGHS report highlighted the issue and, since then, demands for an expanded, coherent system of federal regulation for genetic testing have not abated.  The numerous contested issues include whether and how to regulate certain classes of genetic tests, particularly the category of laboratory developed tests (LDTs) known as In Vitro Diagnostic Multivariate Index Assays (IVDMIAs) which form the basis of many personal genomics products, and whether clinical utility alone captures the value of personal genomic testing.

Does the GTR presage a future collaboration between some combination of the NIH, the FDA and CMS to create such a system?  There’s no answer to that question today, and it’s clear that the GTR in its current incarnation is not going to serve as the point of regulation for genetic tests.  But by beginning to compile, for now voluntarily, a registry of genetic test providers, as well as significant data concerning the analytical validity, clinical validity and/or clinical utility of such tests, the GTR could well serve as one of the central components of any future regulatory expansion.

[Begin Added in Edit, 3/18] Turna Ray of GenomeWeb’s Pharmacogenomics Reporter has a very nice piece examining today’s GTR announcement. Particularly interesting is her suggestion that “housing the registry at a research organization, such as NIH, may quell industry fears of potential regulatory pushback from participating in the registry.”

As discussed below, participation in the GTR will be critical to its success. I think Ray is correct to point out that NIH has the proper pedigree and research focus (as opposed to the more traditionally regulatory focus of the FDA and CMS) to lead the GTR effort without sparking fears that this is just a first step in the direction of increased regulation. Never mind, of course, that the GTR could well be just that: a precursor to a more comprehensive regulatory framework for genetic testing still to come. [End Added in Edit, 3/18]

How Will the GTR Integrate with Existing Genetic Test Resources?

Why do we need the Genetic Testing Registry (GTR)?

There are currently more than 1,600 genetic tests available for clinical testing—a number that has been growing steadily and continues to rise. However, there is currently no single database that provides detailed information about these tests. The GTR is intended to fill this information gap.

How will the GTR be created, designed, and maintained?

The GTR will be created, designed, and maintained by the National Center for Biotechnology Information with input from the stakeholder community and oversight by NIH steering and scientific groups.

At present, there are a variety of public and private resources that offer some of the same functionality as the GTR is promising.  Most notable is the the GeneTests database, which is operated by the National Center for Biotechnology Information (NCBI) and funded by the NIH.  The GTR’s statement that there are “currently more than 1,600 genetic tests available for clinical testing” is likely drawn directly from the GeneTests database which, as of today, lists 1,667 clinical tests and 257 research tests.

Although helpful, GeneTests is neither fully comprehensive nor particularly use-friendly, particularly for consumers seeking a less technical understanding of their DTC genetic test offerings, which are generally not included in GeneTests.  Like GeneTests, the GTR will be run by the National Library of Medicine and implemented by the NCBI, with Kathy Hudson noting that the GTR will be linked to other NIH library resources to “provide “a rich resource for physicians and patients and resources.”

Will the GTR represent a substantial departure and/or improvement from GeneTests and other existing resources?  Here the devil is truly in the details, and the comment period associated with the development of the GTR will be critical to ensuring that participation, coverage and usability are all substantially improved by the GTR.

What Does the GTR Mean for Personal Genomics?

Who will benefit from the GTR?

NIH expects that the Registry will benefit a large stakeholder community including consumers, patients, health care providers, third-party payers, providers of genetic tests, and researchers.

Will the GTR provide information on how to order a test?

Yes. The information in the Registry will help health care providers and consumers determine what tests are available and provide contact information for test providers. The Registry will also assist in identifying health care professionals who can assist with the testing process and other resources such as referral information for community support groups and disease information.

Ultimately, the value of the GTR will depend on the level of participation.  Will companies – particularly consumer-focused companies – contribute data about their genetic tests, and will customers (healthcare providers and individuals, both patients and consumers) and payors turn to the GTR as a reliable source of information about those tests?

At least one DTC genetic testing company, 23andMe, has already indicated its intention to participate in the GTR.

“We welcome the news of the Genetic Testing Registry,” said 23andMe co-founder Anne Wojcicki in response to the announcement.  “23andMe has always been committed to providing individuals with the information they need to make the most of their own genetic information.  We look forward to working with the NIH on this project.”

How many commercial genetic testing providers will follow in 23andMe’s footsteps remain to be seen, but the high profile effort seems likely to garner substantial buy.  Ultimately, however, the level of participation will depend on how the GTR is implemented by NCBI and others, including how easy it is for providers to submit data and for consumers and third parties to mine that data (and other integrated data sources).

If participation proves to be high, the payoff could be considerable.  In the personal genomics space especially, meaningful self-regulation is important, with both academics and industry largely in consensus that clearer standards for inclusion and more consistent interpretation of genetic tests would be beneficial.  The GTR represents an opportunity to centralize genetic test offerings, particularly the multiplex genetic testing products offered by many personal genomics companies, and encourage side-by-side comparisons.

If most test providers voluntarily submit test data to the GTR the registry will provide a useful form of industry self-regulation, helping to standardize (or at least clarify) test offerings, spurring healthy competition between providers and enabling neutral third parties to objectively grade their various product offerings.  And depending on the data that is submitted – will it be all technical data, or will it include other pertinent test information such as price and/or insurance coverage? – the GTR will empower purchasers of genetic tests to evaluate competing tests on the basis of features that are most relevant to their own personalized needs – as opposed to deciding based on marketing claims or advertising campaigns.

More importantly, as Daniel MacArthur has already pointed out, the GTR could serve as the basis for weeding out less reputable genetic test providers whose products lack adequate laboratory quality controls (analytical validity) or scientific evidence to support their claims (clinical validity and/or clinical utility).  Such companies would presumably elect not to subject themselves to the scrutiny of the GTR, particularly if it possessed an active community of genetic test evaluators..  Depending on the degree to which purchasers of genetic tests come to rely on the GTR, inclusion in the GTR may well become a de facto requirement for any commercial genetic test provider, even if it is not converted into a legal requirement.

Although the voluntary nature of the GTR limits its usefulness as a regulatory tool, it has the potential to prove extremely valuable to personal genomics companies and consumers alike.  As usual, time will tell.

The report itself will not be available for several weeks, but the six recommendations on gene patenting and licensing approved by the Committee this past October continue to provoke a heated response. The Biotechnology Industry Organization (BIO), along with former Senator Birch Bayh (of Bayh-Dole Act fame) and others, held a Friday press conference to denounce – again – the report’s recommendations.

The SACGHS Recommendations. Most of the recommendations are uncontroversial, urging the Secretary of HHS to convene stakeholders to “explore” and “encourage” strategies to improve access to genetic testing, enhance patent licensing and ensure that the USPTO is “kept current with the latest scientific and technological developments related to genetic testing and technology.”

So what prompted Bayh’s charge that the recommendations represent “an attempt to send us back to a time when it appeared that American innovation was on its last legs and our economy was in deep distress”?

The sole controversial recommendation involves the Committee’s proposal to exempt healthcare practitioners and researchers from infringement of gene patents. The recommendation, in its entirety:

1. Supporting the Creation of Exemptions from Infringement Liability

The Secretary of Health and Human Services should support and work with the Secretary of Commerce to promote the following statutory changes:

          A. The creation of an exemption from liability for infringement of patent claims on genes for anyone making, using, ordering, offering for sale, or selling a test developed under the patent for patient care purposes.

          B. The creation of an exemption from patent infringement liability for those who use patent-protected genes in the pursuit of research.

BIO’s President and CEO Jim Greenwood looks at this particular SACGHS recommendation and sees doom and gloom. According to Greenwood, exempting patient care and research activities from infringement “would discourage investment in biotech innovation, hobble the transfer of federally-funded research, undermine university research programs, and harm patients who are waiting for life-saving therapies and diagnostics yet to be developed.”

Is the sky really falling, or would the SACGHS recommendation instead work as the Committee intends, increasing patient and researcher access to otherwise off-limits genetic information and tests? One of the most striking features of the proposed recommendation is the tremendous apparent breadth of its dual infringement exemptions. As written, the use and sale of a patented test for “patient care purposes” would be exempt, as would all uses of patent-protected genes for “research.” Patient care and research are broad, nebulous categories that, if interpreted generously, could cover every reasonably likely use for many patent-protected genes and related tests. We look forward to seeing how the final report elaborates on this issue, but it is not surprising that this recommendation would be the focus of controversy.

How a Bill Becomes Law. Still, the controversy may be somewhat academic, because it is hard to imagine it becoming law any time soon. As Schoolhouse Rock! taught us, it’s not easy to move from bill to law. No surprise, then, that the trip from a Departmental Secretary’s Advisory Committee recommendation to a law was too tortuous to ever find its way into a three minute educational animation.

Moving the proposal through HHS and, ultimately, Congress would require substantial elaboration. It’s nearly inconceivable that such elaboration would not involve narrowing the situations in which otherwise infringing activities would be considered exempt. Any Congressional action would be followed by further refinement as courts begin to apply the new infringement exemption (which would presumably show up in Section 271 of the U.S. Patent Act, near the Hatch-Waxman patent exemption that successfully accelerated the development of generic pharmaceuticals).

While the SACGHS recommendation will likely be years in producing any actual changes in patent law, if indeed it ever does, there are several pieces of ongoing litigation that bear directly on the future – and legality – of gene patents, as well as biotechnology patents more broadly. The oft-discussed Myriad litigation, as well as the less-familiar-to-mainstream-media but arguably more important Bilski and Prometheus cases that may define the contours of permissible personalized medicine patents, will almost certainly yield important developments far sooner than anything arising out of the SACGHS report or recommendations.

Of course, the SACGHS report and recommendations still matter, which is why BIO and others have been so quick to object. The SACGHS findings represent an important statement from a diverse and non-partisan advisory body that the current scope of gene patents interferes with both research and patient care. Although we should not expect to see this specific SACGHS recommendation become law in anything resembling the near future, it may play in an important role in the ongoing review of the appropriateness and limitations of gene patents.

Want to read more? Patent Docs has a detailed review of the BIO-led Friday press conference, along with a link to a podcast of the entire press conference.

1. Is DTC Getting HIPAA? The Health Insurance Portability and Accountability Act of 1996 (HIPAA), the most prominent federal regulation governing the privacy of medical records, established the Privacy Rule to provide national standards for protected medical records. HIPAA’s Privacy Rule currently applies only to “covered entities” and business associates of covered entities. A covered entity is a health plan, health care clearinghouse, or a health care provider. Since a company providing genomic sequencing services is not a health plan or a health care clearinghouse, HIPAA will apply only if such a company is determined to be a health care provider or a business associate of a covered entity.

Direct-to-consumer (DTC) genomics companies are not likely to be considered business associates of HIPAA covered entities. HIPAA defines a business associate as a person or organization that, on behalf of a covered entity, performs an activity involving the use or disclosure of individually identifiable health information, or otherwise performs services for a covered entity where the covered entity provides such health information to the business associate. The American Recovery and Reinvestment Act (ARRA) expanded the definition of business associate for purposes of the Privacy Rule and the Security Rule to include

• entities providing data transmission of protected health information to covered entities (or such entity’s business associate) and requiring access on a routine basis to such information, and
• vendors contracting with a covered entity to allow the covered entity to offer personal health records to its patients.

DTC genomics companies typically do not act on behalf of a covered entity, nor do they provide services to covered entities. Rather, as the DTC name suggests, companies such as 23andMe provide services directly to the consumer. However, this is not always the case. For example, California-based Navigenics, commonly referred to as a DTC genomics company, has announced a number of partnerships with healthcare clinics through which it offers its genotyping services to the clinic for use in developing personalized diagnostic, management and treatment strategies for patients. Just last week, Navigenics announced a partnership with Beth Israel Deaconness Medical Center in Boston to familiarize practicing physicians with its DTC offerings, among other goals. Looking at Navigenics’ list of collaborators reveals a number of relationships where Navigenics appears to be performing services (genotyping and risk prediction) and providing identifiable health information (the genotyping results) to health care providers. Whether or not a particular DTC genomics company qualifies as a business associate depends on the particulars of the services it offers, particularly those that it makes available directly to health care providers; particulars which are subject to change at a moment’s notice in this rapidly evolving field.

Moreover, it is conceivable that a DTC genomics company could be considered a health care provider itself. Although we are not aware of any regulative body that has found a DTC genomics company to be covered by HIPAA (as a health care provider or otherwise), the term “health care” is defined broadly under HIPAA regulations:

Health care means care, services, or supplies related to the health of an individual. Health care includes, but is not limited to, the following:

(1) Preventive, diagnostic, therapeutic, rehabilitative, maintenance, or palliative care, and counseling, service, assessment, or procedure with respect to the physical or mental condition, or functional status, of an individual or that affects the structure or function of the body….

If a DTC genomics company provides diagnostic or analytical information to a customer in connection with the customer’s genomic sequence, it may be considered to be offering “diagnostic care” or “counseling with respect to the physical or mental condition of an individual”—and thus, to be a health care provider subject to the HIPAA regulations. Existing DTC providers do offer substantial information that could fall into those categories, including relative risk and lifetime risk calculations for serious diseases (23andMe’s testing service, for instance, includes “carrier reports” for 32 conditions including several cancers, Parkinson’s Disease and diabetes) and the determination of carrier status for alleles with reproductive implications. In addition, other companies such as Navigenics, provide access to board-certified genetic counselors to assist customers in interpreting their results.

The provision of clinical diagnostic information and genetic counseling, even when delivered over a website rather than in a doctor’s office, may constitute the provision of health care. In recent weeks the Genomics Law Report has focused on the recurring calls for standards that would have the effect of blurring the distinction between direct-to-consumer genetic testing and the clinical practice of medicine (also see here, here, here and here). One potential effect of confusing the clinical/non-clinical divide in the DTC setting would likely be to bring DTC service providers unambiguously under the purview of HIPAA as a health care provider. As described below, however, despite the increasingly clinical nature of the services offered by DTC providers, there does not appear to be much enthusiasm for subjecting genomics companies to HIPAA or to other clinical regulations.

2. Why Does HIPAA Matter? Even if a DTC genomics company is deemed to provide a level of service sufficient to make it a covered entity under HIPAA, it may still disclose confidential protected health information (such as a customer’s genetic or genomic results) for the purpose of carrying out “health care operations.” Health care operations are broadly defined in HIPAA Section 164.501 to include business management and general administrative activities. Specifically disclosure is permitted relating to the “sale, transfer, merger or consolidation of all or a part of the covered entity with another covered entity, or an entity that following such activity will become a covered entity and due diligence related to such activity.” Among the amendments to HIPAA contained in the ARRA is a specific prohibition on the sale of protected health information, except for the sale of information in connection with the sale, transfer or consolidation of the covered entity. Therefore, even when HIPAA applies, patient or customer authorization is not required for disclosure of protected health information in the sale of the company’s assets.

HIPAA does not specifically address the bankruptcy of a covered entity; however, it seems that the sale or transfer exception would likely apply. A liquidation in bankruptcy requires the sale of the debtor’s assets. As long as the protected information is transferred to another covered entity in connection with a sale of the assets, presumably individual authorization from the DTC genomics company’s customers would not be required.

For the moment, it does not appear that HIPAA regulations are restricting much if any of the activity currently taking place in the DTC genomics space. However, as a host of factors, including both internal and external pressures, continue to drive many DTC genomics companies closer and closer to activities indistinguishable from the clinical practice of medicine, at least some DTC companies may soon find themselves subject to HIPAA’s regulations. The implications of HIPAA coverage for DTC genomics companies is the subject for another post, but in the limited case of a bankruptcy scenario, even HIPAA coverage would not appear to prohibit a DTC genomics company from transferring its customers’ genomic information.

3. DTC Escapes Stimulus Bill Unscathed? Part of the Stimulus Bill enacted this past spring directed the Department of Health and Human Services (HHS), in conjunction with the Federal Trade Commission (FTC), to conduct a study on privacy, security, and breach-notification requirements for vendors of personal health records (PHRs) and related entities that are not subject to HIPAA. In the meantime, the Act required the FTC to issue a rule requiring these entities to notify consumers if the security of their health information is breached.

The FTC issued a proposed notification rule (pdf) in April 2009, applying to PHR vendors, PHR-related entities, and third party service providers. All three categories, however, are restricted to firms that handle personal health information.

Upon publication of the proposed rule, the FTC solicited comments from the public. One of the comments was from a nonprofit health privacy watchdog group, Patient Privacy Rights, on behalf of the Coalition for Patient Privacy (a group that includes the American Civil Liberties Union and the American Association for People with Disabilities). The Patient Privacy Rights comment (pdf) objected to the limitation of the proposed rule to “the organization and sharing of personal health records,” because the definition of personal health records did not explicitly include genetic or genomic information. As the group explained:

Personal genomics companies such as 23andMe, Navigenics, Knome, and deCODE offer individual genetic testing that can provide customers with novel health services—from determining the likelihood of contracting diabetes, to identifying ancestral roots. Such companies rely on (HIPAA-compliant) labs to analyze patient DNA, which they receive directly, analyze, and store online for access by the patient.

A patient whose genetic information is leaked, stolen, or disclosed could clearly suffer harm as great as that associated with any other PHR health data, as recognized by the various state and federal laws around genetic privacy. The Commission should accordingly determine that personal genomics companies constitute [Personal Health Record] related entities insofar as they ‘access[] information in a personal health record’ or ‘offer[] or maintain[] a personal health record.’

However, when the final notification rule (pdf) was published in August of this year, the FTC had declined to modify the rule as requested by Patient Privacy Rights. The Commission’s final rule contains no mention of genetic data or genomics companies.

While we will have to wait for the completion of the joint HHS/FTC study in February 2010 to see whether it explicitly covers genomics companies in any of its privacy or security regulations, the FTC’s security breach rule suggests that it is unlikely that any such regulations will be immediately forthcoming.

Accordingly, the genomic information supplied by DTC companies is likely to be covered by the FTC’s regulations only to the extent such information constitutes personal health information (thus making a genomics company a firm that handles PHI and subject to the regulations.) This is where GINA comes in.

4. GINA and the Privacy Rule: Did Anything Really Change? The Genetic Information Nondiscrimination Act of 2008 (GINA) requires that the HHS Secretary revise the HIPAA Privacy Rule to make clear that “[g]enetic information shall be treated as health information.” Although GINA required that HHS issue implementing regulations not later than May 2009, it wasn’t until this month that HHS’ Office of Civil Rights issued its proposed rules (pdf). The background discussion of the proposed rule points out, however, that although the term “health information” would be amended “to explicitly provide that such term includes genetic information,” that does not mean that all disclosures of genetic information would necessarily be protected under HIPAA’s Privacy Rule:

We note, however, that as before, genetic information, while health information, is only covered by the Privacy Rule to the extent that it meets the definition of “protected health information.” That is, the genetic information must be individually identifiable and maintained by a HIPAA covered entity (or business associate of a covered entity) (and not otherwise fall within one of the exceptions to the definition).

Thus, although GINA amended the Privacy Rule to cover genetic information, the type of entities covered by the Privacy Rule did not change: it still only applies to HIPAA’s “covered entities.” And so we have come full circle: the key question remains whether DTC Genomics companies are considered to be covered entities, either as health care providers or as business associates of health care providers. While that question remains unsettled, the tone of the note suggests that HHS is not actively seeking ways to apply its regulations to genomics companies.

5. What Does It All Mean? As discussed above, the trend toward clinical activity on the part of many DTC genomics companies could ultimately bring them within the ambit of HIPAA and its Privacy Rule. However, at present it does not appear that there is any federal regulation—including HIPAA—that clearly restricts the transfer of customers’ information as part of a sale of assets by a troubled DTC genomics company.

As we concluded last time, the true test for the handling of individuals’ genetic and genomic information collected by DTC companies will be the first actual bankruptcy. Until then it will remain extremely difficult to predict how regulators and bankruptcy courts will address such a scenario, and the most practical advice at this time, for existing and potential customers, continues to be to understand the terms and conditions offered by each individual DTC genomics company with respect to their customers’ information—and to recognize that, in bankruptcy, genomic data may be transferred to a similar company without regard to those terms and conditions..

As for the DTC companies themselves, the possibility that they may be subjected to regulation under HIPAA and the Privacy Rule—as well as, potentially, a host of other regulations and sources of liability associated with the provision of health care—has implications far beyond the bankruptcy scenario. In the coming weeks the Genomics Law Report will begin to investigate what it might mean for DTC genomics companies if the blurry line between clinical and non-clinical activity in the DTC space finally resolves itself, with the DTC companies on the clinical side of that line.

The AMA’s brief (pdf), not surprisingly, supports the Federal Circuit’s Bilski decision, although it argues that it does not go far enough. Bilski’s claims are not patentable, the brief argues, not so much because they fail to use a machine or make a physical transformation, but “because their lack of machine or transformation indicates that they do not involve what has traditionally been considered to be patentable subject matter”—that is, because they preempt basic scientific principles. Applying this logic to medical diagnosis, the brief argues for a narrowing of what is patentable: “the preemption standard prevents patentees from attempting to cover every possible application of a scientific observation, and requires them to limit their claims to a particular new and useful application or use of the observation.” On a policy level, the brief contends that scientific relationships with diagnostic significance represent the kind of knowledge that physicians are ethically obligated to share, and that allowing patent monopolies on such knowledge will detract from the quality of health care and add to its cost.

The AMA brief also attacks the Federal Circuit’s September 16, 2009 decision in Prometheus Laboratories Inc. v. Mayo Collaborative Services, in which it held that methods for calculating optimal drug dosages for treating autoimmune diseases satisfied the machine-or-transformation test. According to the AMA’s brief, that patent extends to “the basic fact that certain test results correlate with a given physical condition,” and “would preempt the physician from doing anything with the knowledge” when “it should be used in the diagnosis and treatment of patients.” While the AMA’s brief does not directly attack gene patents such as Myriad’s, it does bear on other claims at issue in the ACLU litigation that are directed methods of testing and interpretation.

Then, at a public meeting earlier this month in Washington, the Task Force on Gene Patents and Licensing of the Health and Human Services (HHS) Secretary’s Advisory Group on Genetics, Health and Society (SACGHS) presented a report recommending potentially far-reaching statutory and policy changes in the biotechnology patent regime. (Webcasts and other materials from the meeting are available here, and summaries of the meeting are available from GenomeWeb and the PHG Foundation.) Most significant is the recommendation of an exemption from liability for infringing gene patents for making, using, ordering, or selling a patient care test. Note that this would not invalidate gene patents, but simply make them unenforceable against those engaged in testing for patient care—on the model of the current law that makes surgical technique patents unenforceable against surgeons. A second recommendation is an exemption for those using patented genes for research purposes. The Task Force also urged that HHS discourage (in unspecified ways) what it called “simple association patent claims”—presumably a reference to Prometheus-type claims—because of their potential to preempt basic laws of nature. SACGHS’s final report is expected in December.

The Task Force was motivated by its belief that while gene patents do not serve as “powerful” incentives for investment in genetic research and genetic testing, they may limit clinical access to tests. Much of the commentary at and surrounding the Washington meeting was directed at Myriad and its BRCA1-2 patents. A patient advocacy group called Facing Our Risk of Cancer Empowered urged SACGHS to monitor and regulate the direct marketing of genetic testing to consumers and doctors by Myriad and others. Mega-health insurer United Healthcare charged that as many as 80% of the women getting Myriad’s BRACAnalysis test don’t need it, and announced a prior notification requirement for Myriad tests. The Task Force itself referred to the problem of patent-based “sole providers” limiting access to tests and stifling competition, and stressed that unpatented genetic discoveries “routinely” lead to clinical tests. Its belief is apparently that breaking patent monopolies will lead to more competitive markets without taking away the incentives needed to make the fundamental discoveries that underlie genetic testing. Although others, including members of the Task Force and the Biotechnology Industry Organization (BIO), have voiced their displeasure, Myriad has not yet commented publicly on the recommendations, but it would presumably disagree as well, raising the don’t-kill-the-goose-that-lays-the-golden-eggs argument.

These recommendations have a long way to go before becoming law. The biggest hurdle, of course, will be Congress, which has thus far been unresponsive to the hue and cry to rein in biotechnology patents in any significant way. The recommendations themselves leave some major questions unanswered, including how testing for patient care purposes will be defined, and what kinds of “research” would fit under the proposed exemption. What about, for example, the R&D efforts of for-profit direct-to-consumer (DTC) genetic testing companies?

Even less clear (to me, anyway) is who is right in this debate. In the draft report it issued last spring, SACGHS acknowledged that the evidence on gene patents impeding research was equivocal. A recent study in the journal Nature Biotechnology on “Legal uncertainty in the area of genetic diagnostic testing” does little to suggest that the situation has cleared much in the past year. While the ACLU and others have marshaled some compelling horror stories about patents contributing to limited clinical care options, I tend to be dubious about building policy on the alleged malfeasance of a single company. And when a company like United Healthcare enters the debate as a friend of consumers, I become even more suspicious. I also wonder if the assumption that genetic testing would continue to develop without enforceable patents might not be a bit glib—hope masquerading as evidence?

One thing that is clear is that Myriad’s patents (and others like them) are now under siege from every conceivable direction. (Although Myriad is not showing any signs of slowing up in its attempts to develop diagnostic genetic tests based on issued gene patents, as evidenced by last week’s announcement that it had entered into an exclusive license with Johns Hopkins University for the rights to JHUs patents related to the PALB2 gene, which is indicated for an increased risk of pancreatic cancer.) If the ACLU’s primary motive was to raise public awareness of gene patents and what they do, it has succeeded spectacularly. All this should have little if any influence on the outcome of its case at the district court level—the law seems clear that genes are patentable. However, the Federal Circuit and the Supreme Court, if it ultimately takes the case, will have considerable freedom to rethink what the Patent Act—drafted before Crick and Watson—“says” about gene patenting, and these sorts of policy arguments could well tip the balance.

The following first summarizes key features and recommendations of the Report and then considers how the Report may influence legislative and regulatory developments in the United States, as well as in the U.K.

Part I: Recommendations for Genomic Medicine

At a hefty but still manageable 126 pages, the full Report is recommended reading for those interested in the field of genomic medicine in any country with a developed healthcare system.  But for the sake of convenience, some of the highlights of the Report are summarized below.

The Report proposes initiatives to change the management of medical records, require pre-market review of genetic tests, establish greater bioinformatics capabilities and incorporate genomic medicine into the training of medical professionals.

Focus on Genetically Complex Diseases.  The Report notes that the U.K.’s current medical regime focuses on Mendelian disorders and should be significantly revamped to address more genetically complex diseases and to integrate the benefits of current genetic science and technology into medical practice.  The Report determines that there currently exists no clear program for establishing the clinical validity and utility of genomic tests for complex diseases.  The Report extensively reviews what should be done to incorporate the benefits of genomic medicine into the structures of the National Health Service, in particular integrating genetics into mainstream clinical specialties.  As described in the Report, this appears to be a daunting task that will require new service models, new testing capabilities and extensive changes in the training of physicians and other medical professionals.  As one of its more specific recommendations, the Report proposes the creation of a new Institute of Biomedical Informatics to facilitate the linking of medical and genetic information.

Direct to Consumer Genetic Testing.  The Report recognizes both benefits and risks of DTC testing and proposes that the DTC industry adopt a voluntary code of conduct providing for (i) public disclosure of the quality assurance standards and accreditation status of a company’s testing laboratories, (ii) public disclosure of the clinical validity and utility of tests offered and (iii) appropriate pre- and post-test counseling.  To a degree, the Report’s recommendation of a voluntary code of conduct flows from its recognition that most DTC providers are outside the U.K. and offer their products and services over the internet, making direct regulation difficult.  In connection with its proposals for a program for evaluating the clinical validity and utility of genomic tests, the Report recommends that genetic tests be reclassified as “medium risk,” which would subject the tests to pre-market review before use by consumers.

Sharing Genomic, Medical and Environmental Information.  The Report considers the EU Clinical Trial Directive, as implemented by the U.K., to be an impediment to conducting genetic research using large datasets that permit linking of genomic, medical and environmental information of de-identified individuals.  The Report determines that the existing EU Clinical Trials Directive and the UK implementation of the Directive do not address the issues of data sharing, confidentiality and consent with sufficient clarity or in a manner that provides sufficient research flexibility and recommends that the U.K. revise its implementation of the EU Clinical Trials Directive and take an active role in efforts to revise the EU Directive to make it less burdensome for researchers.

Training.  The Report expresses significant concern over the training of medical professionals in genetic medicine, recognizing that the U.K. currently has a very limited supply of clinical geneticists and that most physicians consider themselves untrained in the practice of genomic medicine.  The Report recommends incorporating genomic medicine in the training of physicians as “a core competency in the Certificate of Completion of Training of all junior doctors training in the medical and pathological specialties.”  It further recommends that “general practitioners should be trained to be able to provide general advice to patients on the implications of the results of predictive tests for common diseases.”  The Report also urges greater training of nurses and genetic counselors.

Genetic Discrimination.  With the 2008 passage of the Genetic Information Nondiscrimination Act (GINA), genetic discrimination represents one area in which the United States has taken substantial, affirmative action with respect to genetic testing, and provided the House of Lords with a working model from which to develop its recommendations.  Interestingly, while noting GINA’s passage, the Report recommends a wait and see approach, stating, “We do not believe that at present there should be specific legislation against genetic discrimination, either in the workplace or generally” while acknowledging “that there is a continuing need to monitor the situation.”  The Report recognizes the adverse selection problem posed by genetic testing in the context of life insurance and notes that a voluntary moratorium, begun in 1999, on the use of genetic tests by insurers has postponed the need to address the problem.  However, the moratorium is up for review in 2011 and could end at that time.  The Report urges a negotiated extension of the moratorium and recommends that life insurers voluntarily agree not to use genetic tests conducted while the moratorium is in effect, but it does not propose any long-term solution to the adverse selection problem.  Not surprisingly, given the universal health coverage afforded under the NHS, the Report does not address genetic discrimination by health insurers (the topic of Title I of GINA).

Additional commentary and analysis is also available from the BBC (a very short summary of the Report), Mark Henderson of The Times (a slightly longer summary of the Report and an op-ed piece on how the NHS should respond) and Genetic Future (focusing in detail on the implications of the Report for the DTC community).

Part II: Reading the Report from an American Perspective

In preparing the Report, the Science and Technology Committee consulted a host of leading experts in the U.K. and met with a number of U.S. government officials, medical researchers and health care professionals.  Given the stature of those consulted and the quality of the Report, policymakers and regulators on both sides of the Atlantic should find the Report a useful resource.

Linking Genomic and Phenotypic Data.  Although developed to inform and prepare the NHS for the arrival of genomic medicine, many of the issues addressed in the Report are of clear interest and concern in the U.S. as well.  For instance, the Report recognizes that effective genomic research requires linking large datasets of genomic, medical and environmental information of specific, albeit de-identified, individuals and that such linkage increases the risk of identification.  This issue has been considered by various U.S. governmental and research organizations.  The NIH chose to handle it by deciding last fall to remove certain information from its database of Genotypes and Phenotypes (dbGaP).  At the other end of the spectrum, the Personal Genome Project is pioneering a different approach through its model of “open consent.”

Adoption of Electronic Medical Records.  Similarly, the Report considered the coming widespread use of electronic medical records, which promise to improve care and reduce costs but increase the risk of unauthorized access and disclosure.  This is an issue that the U.S. and state governments continue to grapple with, particularly in light of the health information technology directives handed down by Congress as part of the American Recovery and Reinvest Act of 2009 (pdf), or “the stimulus bill” as it is more colloquially known.

A Registry for Genetic Tests.  And it doubtless no coincidence that the Report recommended that the U.K. Department of Health host an online registry containing information on “direct to consumer” (DCT) laboratories, the quality assurance schemes used by those laboratories and the clinical validity and utility of the tests offered by such laboratories.  That recommendation closely mirrors a 2008 recommendation from the Secretary’s Advisory Committee on Genetics, Health and Society (SACGHS), in its even lengthier report on the U.S. System of Oversight of Genetic Testing (pdf), which recommended that the U.S. Department of Health and Human Services create a similar mandatory, public registry for genetic tests and genetic testing laboratories.

In other respects, the Report reveals important differences between the U.S. and U.K. systems.  For instance, the Report is essentially silent on questions of patient payment, health insurance and government reimbursement, issues that are fundamental to any discussion of health care reform or genomic medicine implementation in the U.S.  Also, the size, federal structure and greater private sector reliance of the U.S. system may necessitate different approaches to similar problems.  Both countries face the daunting challenge of educating healthcare professional in genomic medicine, but we can expect the effort will be more decentralized in the U.S. and rely more heavily upon competition among states and institutions (such as medical schools) to encourage the development of appropriate training programs.  Similarly, the federal structure of the U.S. means that state governments may take the lead in certain areas of regulation (as they seem to be doing with DTC testing), with the federal government entering the field either in a more limited respect and/or later and with the knowledge gained from prior state-level regulation.

The Committee that drafted the Report, like policymakers in the U.S., wrestled at length with the fact that they are crafting policy and recommendations for technological and medical developments that are moving so fast, and hold such far-reaching potential, that any analysis, action or inaction must be taken with a degree of humility that recognizes how much in this field is unknown and unpredictable.  A similarly thorough and pragmatic approach would no doubt be welcome in the U.S.