I noted last week the opportunity for public submissions to the FDA on the regulation of personal genomics(sadly, the deadline for submission has now passed). I put together my own submission over the weekend - I'm under no illusions that a submission from a non-US citizen will carry much weight with the FDA, but at the very least this was a useful opportunity to collect my thoughts on these issues.
Here's my submission in full, with some links added for context:
May 2, 2011 To: Molecular and Clinical Genetics Panel of the Medical Devices Advisory Committee
Docket: FDA-2011-N-0066
Submitter: Daniel MacArthur, Wellcome Trust Sanger Institute
The views presented here are my own, and do not represent those of my employer.
Introduction
These comments are being submitted to the Committee for consideration as part of their deliberations and recommendations to the Center for Devices and Radiological Health concerning direct-to-consumer (DTC) genetic tests.
I write this from two different perspectives: firstly, as a working geneticist, and secondly as a consumer of personal genomics products. In my professional role I am a researcher at the largest genomics research facility in Europe, where I examine methods for extracting useful functional information from human genome sequence data, working towards analytical approaches that can be used in clinical practice. I am also a long-term observer of the personal genomics industry and a customer of four different genetic testing companies.
From both perspectives I am deeply concerned about fostering innovation in the field of genetic testing and its integration into medicine. As a consumer, I am also concerned with ensuring that I and others continue to have direct access to accurate information about our own genomes.
The dangers of unnecessary regulation of the genetic testing industry
Over the next decade the integration of genomic technologies with healthcare will permit the development of a new, predictive, personalised model of medicine. However, numerous technical and economic challenges will need to be solved in order to take full advantage of this emerging paradigm. It is thus crucial that regulatory obstacles to innovation in the young field of genomic medicine are kept to the bare minimum, while still protecting consumers.
The DTC genetic testing industry is diverse, with a range of target markets, technologies, and marketing practices. While some companies in the field have engaged in deceptive marketing (and should be punished for doing so under existing consumer protection laws, as noted below), the most popular companies should be commended for their responsible delivery of complex genetic information to customers. The innovation driven by this industry will serve the field of genomic medicine well: companies operating in this space have developed intuitive interfaces for genetic risk information better than anything currently provided to patients in mainstream clinical practice, and one company (23andMe) has created a novel paradigm for participant-driven research into the genetics of complex traits that has already resulted in a peer-reviewed publication[1]. As the technology and science of genetic testing advances, encouraging the proliferation of companies willing to (responsibly) test various approaches to analysing and delivering genetic results would pay dividends for mainstream genomic medicine.
Critics of DTC genomics frequently cite consumer safety as a key concern justifying stringent regulation of the industry. In fact the studies performed so far on genetic test consumers, while still limited in scope, provide no evidence to support a strong protectionist stance: recipients of DTC genetic information seem to respond sensibly, showing little sign of unwarranted anxiety about their results[2]. Further research is needed in this area, but certainly there is currently no compelling justification for restricting access to these tests from a public health perspective.
Regulatory mechanisms already exist to govern the accuracy of the raw data provided by these companies as well as to punish false advertising and unethical marketing (such as the Clinical Laboratory Improvement Amendments and the Federal Trade Commission, respectively). These mechanisms should be strengthened where necessary and applied uniformly across the industry. In addition, it is crucial that consumers have access to accurate, transparent information about the tests provided; this would be facilitated by the creation of a registry of genetic tests that included accessible descriptions of the markers examined in each test and the level of evidence supporting the claims made. The National Institutes of Health’s proposed Genetic Test Registry (GTR) would be a natural location for such a registry. However, the GTR is currently planned as a voluntary database; either mechanisms should be put in place to make enrolment in the GTR mandatory for genetic testing companies, or substantial efforts should be made to establish the GTR as a reputable, intuitive source of information for consumers, thus encouraging participation from providers.
Enforcing these three basic principles (accuracy of raw data, responsible marketing, and transparency) would punish irresponsible companies without unfairly affecting companies providing accurate information to consumers. Imposing further obstacles on the DTC genetics industry will inhibit innovation in a crucial field, both by increasing the cost of introducing new technologies as well as discouraging new companies from entering the market. Such restrictions would also unnecessarily restrict the access of the public to information about their own genomes.
Some stakeholders, such as the American Medical Association (AMA), have called for health-related genetic interpretation to be provided only under the supervision of a medical professional. To mandate this would be a grave mistake. As the AMA itself admits in its submission to this Committee (FDA-2011-N-0066-0006.1), physicians are currently unprepared to provide interpretation of sophisticated genetic data to large numbers of patients. Forcing consumers to obtain their results through gate-keepers who are self-admittedly unqualified to sensibly interpret those results would represent another unjustified restriction of consumer access to genetic information, and almost certainly decrease the quality of the provided interpretation. DTC genetic testing companies should be encouraged to work with clinicians in developing their interpretations (as the responsible members of the industry already do), but clinicians should not be the mandated point of access for all health-related genetic test results.
It is worth noting that the nature of DTC genetic testing make it an international industry; both samples and electronic information can be shipped easily between jurisdictions. As such, excessive regulation of US companies offering this service will simply encourage the establishment of similar providers operating outside US regulatory control, which could nonetheless be accessed (legally or illegally) by US residents. Harsh regulations that pushed this industry off-shore would destroy the opportunity for the US to build a vibrant, responsible source of innovation in genetic testing on its own soil.
Summary
We are currently on the brink of a transformation of the practice of medicine. If provided with light-touch regulation to govern laboratory accuracy, discourage unethical marketing and encourage transparency, and otherwise allowed to develop freely, the DTC genetic testing industry will play an important role in developing and testing innovation that will help to fuel this transformation. Regulations that step beyond this careful approach run the risk of inhibiting both innovation and consumer access to their own genetic information. I thus urge the Committee to carefully consider the cost of restrictions on the DTC genetics industry – both in terms of innovation and infringing on consumer autonomy – in making its recommendations.
Sincerely,
Daniel MacArthur
Research Fellow, Wellcome Trust Sanger Institute, Hinxton, UK
Blogger, Genetic Future (stag4.wired.com/wiredscience/geneticfuture) and Genomes Unzipped (www.genomesunzipped.org)
[1] Eriksson, N., et al. Web-based, participant-driven studies yield novel genetic associations for common traits. PLoS Genetics 6: e1000993.
[2] Bloss, C.S., et al. 2011. Effect of direct-to-consumer genomewide profiling to assess disease risk. New England Journal of Medicine 364: 524-534.
