On July 7, the Science and Technology Committee of the United Kingdom’s House of Lords issued its report on genomic medicine (pdf). The Report is optimistic about the potential long-term benefits of translating advances in genetics into substantial improvements in medical care but determines that the National Health Service (NHS) is not currently equipped to take advantage of this scientific revolution. The Report identifies existing institutional deficiencies and makes a variety of recommendations for improving the U.K.’s current system.
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.