…promote high standards and consistency in the provision of direct-to-consumer genetic tests among commercial providers at an international level in order to protect the interests of people seeking genetic tests and their families.

The Principles, which are ambitious in scope and detailed in their recommendations, represent an important next step in the ongoing debate over the appropriate level of oversight for the emerging DTC genetic testing industry.

Published in draft form, the Principles provide ample room for analysis, and companies and consumers are invited to provide responses and comments until December 6th, 2009.

In this post we take a close look at the draft Principles and summarize the core values and goals that appear to underlie these recommendations.

Part I: The Big Picture

The desire to bring higher standards and greater consistency to the genetic testing industry is far from new. In the United States, the Secretary’s Advisory Committee on Genetics, Health, and Society (SACGHS) published a comprehensive report on genetic testing (pdf), including recommendations for oversight, in 2008. A consortium of DTC companies organized by the Personalized Medicine Coalition continues its work on a long-awaited set of voluntary industry guidelines (pdf). Policy and professional groups such as Genetic Alliance and the American College of Clinical Pharmacology have also sought greater oversight of DTC genetic testing. In the United Kingdom, the Human Genetics Commission’s recommendations come in the wake of, among other guidance, the report on genomic medicine issued in July by the House of Lords which recommended that DTC genetic tests be reclassified as “medium risk” – a classification that would subject the tests to pre-market review before use by consumers.

In the Commission’s recommendations, the recurring theme is a concern for the well-being of the individual consumer:

Genetic tests have the ability to give rise to a broad spectrum of responses . . . When a genetic test is provided outside a framework of healthcare, special attention must be given as to how that individual may respond to the results . . . and the subsequent impact the test results may have on that individual and their family. With this in mind, these Principles have been developed with the best interests of consumers at the forefront.

This is a familiar theme, and the Principles reflect a tension that has already received considerable attention: on the one hand we have concern about the potential harms that can arise from DTC genetic testing in certain circumstances, particularly where information may be inaccurate or may be presented without necessary counseling or other professional services; on the other hand is the reality that DTC genetic testing companies are frequently not intending to provide, nor capable of providing, a clinical service.

The Principles do not address traditional forms of clinical genetic testing. They are, however, intended to cover:

…all aspects of direct-to-consumer genetic testing services, including the marketing and advertising of tests, the collection, analysis and storage of biological samples, the interpretation of results and the provision of results to the consumer.

Significantly, the Principles apply to all DTC genetic tests, except for those specifically excluded. (Exemptions are provided for genetic tests mediated by medical professionals, forensic or court-order testing and testing for “purely medical research…where the results are not disclosed to the consumer,” an exemption which, incidentally, would not cover several emerging genomics research projects including the Personal Genome Project and the Coriell Personalized Medicine Collaborative, both of which return research results to their participants.)

The decision to lump all DTC genetic testing into a single category for purposes of the Principles, including tests with attenuated clinical value (for example, ancestry testing), demonstrates the Commission’s apparent suspicion and discomfort with the entire DTC industry and produces a set of broad-spectrum rather than narrowly-tailored recommendations.

Part II: The Substantive Provisions

Although the Principles themselves will have no legal force, even once finalized, the Commission hopes that they will guide self regulation by commercial testing services and action by “regulatory bodies and/or national jurisdictions [that] should have defined measures in place.”

Definitions. The Principles define “genetic test” to mean “a test to detect the presence or absence of, or a change in, a particular gene or chromosome or a gene product or other specific metabolite that is primarily indicative of a specific genetic change.” Eleven categories of genetic tests are defined, of which three are considered a “genetic test in the context of inherited or heritable disorders” which “may have important implications for the health of the person concerned or members of their family, or have important implications concerning reproductive choices.”

The Principles contain additional definitions for “condition,” “trait,” “test provider,” and “genetics health professional,” the last being a “health professional who has undergone appropriate training in the interpretation of genetic information and has achieved the required competencies.” Not specified is whether a general practitioner would qualify as a “genetics health professional” or whether additional training or certification related to genetic testing would be required.

Information Supplied by DTC Genetic Service Providers. The Principles would impose upon DTC genetic service providers the obligation to educate consumers about genetic testing and the implications of test results so that consumers can make informed decisions. To a large degree the Principles simply articulate customary rules of fair advertising and disclosure that could apply to a variety of consumer services. For example, the test providers should provide information that is specific, easy to understand and does not overstate the utility of a test.

The desire to provide consumers with “easily understood, accurate, appropriate and adequate information” prior to testing is entirely appropriate. It is also hugely ambitious. Respected commentators have noted, generally, the need to “revolutionize our communication of science to non-scientists” in order to improve understanding. Specific Commission recommendations, such as the requirement that providers supply “information about the presentation of results . . . such as relative and absolute risk assessments so that an individual can understand test results” run into identified gaps in scientific understanding and education at the individual level, such as the well-documented difficulty in communicating statistical concepts such as relative risk.

The requirement in Section 10.6 that providers “have in place a process to evaluate how well consumers are able to understand the background information and test results they have received” appears to ask nothing less of these companies than to serve as educators (and educational reformers) in additional to their role as genetic testing providers.

And, in many cases, the very education and analysis that the Commission demands is of exactly the type that requires the participation of medical professionals to develop. Other potentially problematic informational requirements set forth in the Principles include the following:

• A genetic test in the context of inherited or heritable disorders “should only be provided to consumers with individualized pre- and post-test counseling.”
• A provider that intends to recommend a therapeutic product “should also provide information about other lifestyle choices and behavioral modifications that are known to have a preventative or therapeutic value in relation to the trait linked to the genetic markers tested.”
• “Where appropriate, the test provider should inform consumers about . . . actions that may help the consumer to take informed decisions about their health or welfare in light of the test results . . .”

As discussed further below, these proposals suggest that DTC testing services should possess a significant amount of personal information about their customers (quite possibly more than the average customer would want to disclose to a service provider, although information that would be routinely disclosed to a medical professional) and contemplate participation by DTC testing services in the personal and medical decision-making of individuals.

These and the many other informational and educational requirements set forth in the Principles would appear to require DTC genetic service providers to assume many of the responsibilities traditionally carried out by medical professionals and educators. Furthermore, attempts to impose such requirements on DTC providers would almost certainly hinder ongoing volunatry and regulatory attempts to demarcate clinical and non-clinical services.

Informed Consent. The Principles stress that DTC service providers should enable consumers to provide an informed consent that is truly informed. In most respects, the consent recommendations, when combined with the disclosure requirements described above, outline a desirable industry standard. The Principles require that test providers obtain and retain written confirmation of consent, that a separate consent be obtained before biological samples are used for any secondary purposes (such as research), and that consent be obtained before a third person is given access to biological samples or personal or genetic data.

In other respects, however, the informed consent requirements contemplate a significant intrusion by the test provider into the personal lives of consumers. For instance:

• “The test provider should give consideration . . . to the personal and familial circumstances of the consumer.”
• The test provider must “consider the impact of the test results for the consumer” and in doing so should take into account “the potential of the test to have a significant impact on personal relationships and the stability of families.”
• Genetic testing of persons incapable of consent should only “be carried out if testing is in his or her best interest,” which appears to require the test provider to involve itself in, and possibly to second-guess, the decisions of legal guardians.
• With the exception of paternity tests, “genetic tests in respect of children [not having legal capacity to consent] should normally be deferred until the attainment of such capacity unless other factors indicate that testing during childhood is clinically indicated,” a requirement which appears to intrude into the domains of both parents and physicians and runs counter to the policy of 23andMe, one of the leading DTC service providers.

The need for truly informed consent is as important in the DTC context as it is in the clinic or in a genomics research study. However, given the considerable debate that continues to swirl around issues such as pediatric consent and genomic data privacy, the Principles should do more to encourage DTC service providers to develop appropriate informed consent protocols in cooperation with consumers, clinicians, researchers and other relevant stakeholders.

Blurring the Clinical/Non-Clinical Divide. The Principles are suffused with worry that consumers will use DTC genetic testing as a substitute for professional medical advice. This is a concern commonly voiced by critics of the DTC industry. Unfortunately, compliance with the Principles would increase that very risk, because their likely result, if implemented, would be to further blur the line between DTC and clinical testing and services.

Examples of Principles that demonstrate this blurring include the following:

• Genetic tests “in the context of inherited or heritable disorders . . . should only be provided to consumers with individualized pre- and post-testing counseling.”
• “The test provider should provide information about . . . the decisions that a consumer may face after taking the test . . . and identify prospectively any likely further investigations that a consumer or member of their family may wish to pursue after receiving the test results.”
• If the test provider intends to use the test result to promote a therapeutic product, the test provider “should also provide information about other lifestyle choices and behavioural modifications that are known to have a preventative or therapeutic value in relation to the trait linked to the genetic markers tested.”
• “If a test provider intends to use the results of genetic test to make a recommendation to a consumer to alter the dosage of a medicine or to recommend alternative medicines, the test provider should make available information about the link between the genetic test result and the metabolism of the indicated medicines.”
• “Where appropriate, the test provider should inform consumers about recommendations or known actions that may help the consumer to take informed decisions about their health or welfare in light of the test results.”
• “Interpretation of genetic test results should be carried out under the responsibility of an appropriately qualified professional, with recognized training and qualifications, working within the standards determined by an appropriate professional body and regulated by this professional body, employed by or working on behalf of the test provider.

Finally, in determining whether or not the results of a genetic test may be returned directly to the consumer who ordered the test, the Principles set forth a host of factors for DTC service providers to consider in determining “whether the test results should be provided only in the context of a consultation with a suitably qualified genetics health professional…”

These factors include everything from the severity of the condition to be diagnosed to the reliability of the diagnosis to the “likely speed of degeneration,” along with particularly personal criteria such as the likelihood that the results will “have a significant or life-altering impact on the behavior of the individual” or on the personal and family relationships of the individual.

It is almost impossible to conceive of a system in which DTC service providers could evaluate these and the other factors set forth in Section 10.1 of the Principles without engaging in preemptive genetic counseling for each customer seeking whole classes or categories of genetic tests. Irrespective of whether such pre-testing genetic counseling would be desirable in the DTC context, at this point the resources simply do not exist to support such a model – there are simply not enough genetic counselors or other appropriately trained medical professionals. And as the cost of genomic data production continues to decline, demand for data is likely to continue to outpace the capacity of genetic testing providers – whether DTC or clinical – to provide that data alongside individualized genetic counseling.

Furthermore, given the Commission’s underlying concern that consumers will inappropriately lean upon DTC genetic information to make important medical and lifestyle choices, requiring DTC companies to provide detailed and personalized medical assessments to their customers seems an odd way to set consumer expectations for the appropriate use of DTC genetic information.

Technical Provisions. Sections 6 (Data protection), 7 (Sample handling) and 8 (Laboratory processes) provide useful guidelines for DTC service providers that seem likely to be supported – if not already adopted – by most responsible companies and would serve as a useful floor to ensure that consumers receive a high-quality genetic testing experience. Recommendations such as improved proficiency testing for genetic testing laboratories and more specific policies governing the treatment of an individual’s genetic data in the event of a bankruptcy have been made elsewhere and are likely to be widely supported by both companies and regulators.

Part III: What’s coming next?

In the “Purpose and Scope” section of the Principles (Section 1.1), the Commission writes that the “test provider should strive to provide a high-quality service that meets the expectations of the consumer whilst safeguarding their interests.” In focusing primarily on the desire to safeguard consumers’ interests – a desire that is manifest in standardized guidelines that attempt to bring the DTC companies closer in line with practices used in clinical genetic testing – the Commission has crafted Principles that, while comprehensive and ambitious in that regard, are likely to do much to frustrate the expectations and desires of many consumers if implemented to the letter.

Next week, we will take a closer look at just what these Principles, in conjunction with various other calls for increased oversight and a heightened focus on clinically relevant testing, might herald for the future of the DTC genomics industry. In the meantime, the Commission has prepared 11 consultation questions, many of which touch on the issues identified above, and we encourage our readers to provide their own take on the Principles both directly to the Commission (pdf) and in the comments below.

Strict Regulation of Genetic Examinations

The Act employs the terms “genetic examination” and “genetic analysis” in most of its provisions and defines these terms so broadly (§ 3) as to admit some uncertainty as to what would or would not constitute a genetic examination or genetic analysis. The vagueness of the definitions is mitigated to a degree by other defined terms that clarify that the Act’s provisions on genetic examinations and genetic analyses apply, in fact, to such examinations and analyses for medical purposes or for determining descent. The Act requires that “diagnostic” or “predictive” genetic examinations be ordered and interpreted by medical doctors having appropriate training and conducted only by institutions having the appropriate accreditation (§ 7). Such genetic examinations and genetic analyses may be conducted only upon the express, written and informed consent of the patient (§ 8).

In seeking informed consent (§ 9), doctors conducting a genetic examination must offer the patient counseling services (§ 10) that include an explanation of possible medical, psychological and social risks of conducting, or not conducting, a genetic examination. Patients also have a right to elect not to know the results. Consent may be withdrawn at any time, including orally, and a patient may require that the results of his or her genetic examination, including an tissue samples, be destroyed (§ 12, 13).

Prenatal genetic examinations (§ 15) are limited to identifying treatable medical conditions “according to the generally accepted status of science and technology.” However, no prenatal genetic testing is permitted for medical conditions or illness that do not “break out” until after the age of 18. What constitutes the “generally accepted status of science and technology” (§ 23) will be determined using guidelines supplied by the 13-member “Genetic Diagnostic Commission.”

Non-Discrimination

With limited exceptions, the Act prohibits insurers (§ 18) and employers (§ 19) from demanding a genetic examination or the results of any previously conducted medical genetic examination. Insurers may request the results of previously conducted exams in the case of life, disability or pension insurance policies exceeding EUR 300,000 or that provide an annuity exceeding EUR 30,000 per year. The Act also provides an exception for occupational medical exams needed to assess genetic traits responsible for severe work-related health conditions (a provision that needs further regulatory clarification) (§ 20). The Act reinforces the prohibitions on requesting or obtaining genetic tests with a blanket prohibition on genetic discrimination by employers (§ 21). The Act contains an even more comprehensive prohibition (§ 4) providing that no person may be discriminated against or disadvantaged on account of genetic characteristics, or the genetic characteristics of a genetically related person, identified by a genetic examination. This latter prohibition is so broad as to be almost incomprehensible—taken at face value it seems to prohibit any genetic information from being used by any person in any detrimental fashion—and will require further elaboration by courts or regulators.

Direct-to-Consumer (DTC) Provisions

The requirement that any “diagnostic” or “predictive” genetic examinations be ordered and interpreted by medical doctors (§ 7), and the results disclosed to the individual only by the ordering physician (§11), means that any would-be providers of DTC genetic services will need to convince German regulatory authorities that they are supplying educational or informational products, and not clinical or medical services. One of the many uncertainties in reading the Act is whether whole-genome sequencing, which can yield both clinical and non-clinical information, would be prohibited unless ordered and interpreted by a medical doctor. Given the general tenor of the Act, prohibition seems likely.

Complicating matters further is a somewhat cryptic (either as written or as translated) provision of the Act (§ 6) that authorizes the Federal Health Ministry to restrict access to “genetic study materials” (an undefined term) for the conduct of genetic examinations to persons and institutions authorized to conduct such examinations. Possible restrictions could bar German residents from receiving or returning DTC sample collection kits or accessing information concerning genetic testing and genetic conditions directly from DTC companies such as 23andMe, Navigenics or Pathway Genomics.

Research and Other Exceptions

The Act does not apply to “genetic examinations and genetic analyses or the handling of genetic samples or genetic data conducted for research purposes.” Although the term “research purposes” is not defined, the exception (§ 2) appears to protect pure research and is reinforced by the fact that most substantive provisions of the Act apply to genetic testing for medical purposes. Similarly excepted are genetic analyses for authorized criminal procedures and in accordance with the Infection Protection Act.

Penalties, Future Regulations and Delayed Effectiveness

The Act contemplates that it will be fleshed out by future regulatory actions. It establishes a Genetics Diagnostics Commission that, in conjunction with the Robert Koch Institute (a German analog of the Center for Disease Control) will develop the regulations (§ 23). In addition, the Act becomes effective only in gradual steps (§ 27) that defer the effective date of most provisions until October 2009, 2010 or 2011. Interestingly, Section 6 of the Act, which authorizes the Federal Health Ministry to restrict access to “genetic study material” and appears targeted at DTC genetic testing services, is one of the few provisions given immediate effect. Depending on the violation, the Act provides for penalties of imprisonment up to two years and fines of up to 300,000 EUR per violation (§ 26).

An Extreme of the Spectrum

Germany’s Human Genetic Examination Act exists at a paternalistic extreme of the spectrum with respect to the regulation of genetic services and information, sharing that space with the similarly restrictive Norwegian Biotechnology in Human Medicine Act (pdf), both of which seem influenced by the Council of Europe’s Convention on Human Rights and Biomedicine. Elsewhere on the spectrum, the most comprehensive piece of U.S. federal genetic legislation, the Genetic Information Nondiscrimination Act (GINA), restricts use of genetic information by insurers and employers but leaves individuals free to use genetic testing services as they choose. Similarly, in the United Kingdom, the recent and widely-discussed House of Lords Report on Genomic Medicine advises the DTC genetic testing industry to adopt a voluntary code of conduct for assessing the clinical utility of its services and the need for associated genetic counseling.

The German Act, on the other hand, adopts an extremely protective, even fearful, view of genetic information as something so dangerous and private that the generation and disclosure of genomic data must be mediated solely through specially trained physicians, accompanied by psychological and social counseling, and subject to destruction of the data at any time upon the request of the subject individual. In addition to tightly regulating the doctor/patient relationship, the Act appears intended to outlaw (or at least highly restrict) DTC genetic testing services. One of the laudable purposes of the act, “to protect human dignity and to ensure the individual right to self-determination via sufficient information,” is belied by provisions of the Act that restrict the ability of individuals to access their own genetic information directly.

Assuming the legislation is enacted, there will be plenty of international observers tracking the consequences of Germany’s attempt to tightly control its citizens’ access to and use of their genetic information. Will DTC companies cease sending spit kits to German residents? Will German citizens seek genetic testing in less restrictive climes? Will Germany’s example prompt other countries to follow a similar policy of genetic exceptionalism enforced by paternalistic regulation?

The ACCP’s position paper faults a number of features of the current regime: (i) the FDA does not require premarket review of laboratory-developed tests; (ii) even if conducted in CLIA certified laboratories, the clinical validity of laboratory-developed tests (which includes most DTC genetic testing) is not regulated; (iii) there is no regulatory oversight system for advertising of DTC genetic tests; and (iv) the communication of DTC test results is not mediated through a trained clinician. The ACCP fears that consumers are insufficiently protected in the current unregulated environment, with the result that “at a population level, these collective [negative] experiences may give future genetic testing a poor reputation, and it consequently may not be trusted by consumers.” The ACCP further cautions that the “inequitable regulatory policy regarding laboratory-developed tests [may stifle] innovation in the creation of validated genetic tests.” The position paper does not state, or offer any data suggesting, that any such stigma currently attaches to genetic testing or that innovation is being stifled.

The ACCP recommends “the establishment of effective governmental oversight…soon” but does not specify exactly what that regulation should be. For instance, the position paper notes that CLIA certification of laboratories does not address the issue of clinical validation of genetic tests and that laboratory-developed tests (which includes most current DTC genetic tests) require no premarket review by the FDA. The FDA is already wrestling with this extremely complicated issue as it assess whether and how to regulate laboratory-developed tests employing multivariate index assays (pdf) (or IVDMIAs), but the statement offers no suggestions on how the FDA should balance the trade-offs inherent in such regulation.

One such trade-off is the difficult question of how to require clinical validity in the face of rapidly advancing knowledge without stifling innovation (a problem the ACCP’s position paper implicitly acknowledges). The statement’s clearest recommendation is that professional clinicians should be more involved in the process of communicating DTC genetic test results, particularly clinical or medical test results, thereby preserving “future utilization of pharmacogenetics testing to inform choices about medication use.” Few would argue the desirability of consumers receiving advice from appropriately trained clinicians, but there would be a lot of devil in the details of any attempt to dictate by law the scope of such involvement, including (i) distinguishing clinical or medical DTC genetic testing from recreational or informational testing and (ii) ensuring a supply of sufficiently trained professionals. The ACCP statement offers little assistance with those details.

The ACCP position statement is just the latest manifestation of a view that DTC genetic testing should be more highly regulated (see “In Search of a Coherent Framework: Options for FDA Oversight of Genetic Tests” (pdf) and the recently published House of Lords report on Genomic Medicine), with the most recent call to action coming from Genetic Alliance, which advocates a public, FDA-supervised registry of both DTC and laboratory genetic tests.

Most of the key players in the DTC genomics industry appear to at least agree on the need for self-regulation in the form of voluntary standards of conduct. 23andMe, deCODE, Navigenics, and others, as members of the Personalized Medicine Coalition, have proposed the development and communication of common standards regarding the scientific validity of genetic services available directly to consumers (pdf). And a recent study (the NIH Multiplex Initiative) of early adopters of genetic testing services similar to those provided by DTC companies found that those individuals “may be among the most motivated to take steps toward healthier lifestyles,” providing, as one reviewer puts it, “another reason to leave DTC gene-testing shops alone.”

The ACCP position paper raises several arguments in favor of state-supported or federally supported regulation in addition to improved industry self-regulation, including the risk that “poor consumer experiences [could] stigmatize[] the genetic testing field.” But what is missing from ACCP’s call for more robust state regulation is rigorous documentation of those “poor consumer experiences.” And it is missing because patient or consumer harms due to DTC genetic testing, although oft-alleged, have yet to be convincingly demonstrated. (Indeed, a common assumption of many in the medical community—that patients with incurable genetic diseases would be at risk of needless harm were they to be tested and confronted with their genetic status—has been called into question by a recent study suggesting that, at least in the case of Alzheimer’s disease, returning genetic test results to individuals does not cause any significant distress.)

Without convincing evidence of the harms of DTC genetic testing, it remains difficult to fully justify more rigorous governmental regulation, or to anticipate its content, structure or ultimate effect, which perhaps explains why such regulation continues to remain just over the horizon.

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.