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Regulating genomic information needs new approaches

28 March 2011
By Dr Christine Patch and Dr Barbara Prainsack
Dr Patch is a consultant genetic counsellor and Dr Prainsack is a reader in medicine, science and society at King's College, London
Appeared in BioNews 601
People interested in consumer genetics eagerly anticipated the meeting on 8-9 March 2011 of an US Food and Drug Administration (FDA) advisory panel on consumer genetics. The 21-member panel comprised academics, clinicians, a patient organisation member, a company representative, and one consumer.

The panel members had been asked to comment on several aspects of direct-to-consumer (DTC) genetic testing. Questions included the risks and benefits of marketing and selling clinical genetic tests DTC; and possible mitigations 'against incorrect, misinterpreted, miscommunicated, or misunderstood test results' due to the absence of 'live [genetic] counselling' (1).

The panel's view that DTC genetic testing should typically require a licensed physician to order the test and interpret the results (2) immediately spurred heavy criticism. This ranged from the advisory committee being diagnosed with unmitigated paternalism to a public 'call to arms' (3) and encouragement of existing consumer genetic test-takers to download their data for long as they can.

Coming from two different disciplinary backgrounds, the authors of this article have similar concerns. We believe the set-up of the FDA advisory board meeting did not advance new arguments or data, but rehearsed previous opinions. In particular, those who have collected evidence on consumers' reactions to DTC genetic tests were absent from the meeting.

Recent studies have found it very rare for DTC test customers to suffer from anxiety as a result (4). Most people reported no problems understanding the test results, and some even found them helpful (5). However, these people were generally scientifically-literate early adopters, and a significant number said their results were too vague to be useful. These studies seem to agree with several commentators (6) that the FDA meeting was set up, not to devise policy strategies based on empirical evidence, but based on what some designated experts think would be good for 'the public'.

The approach in the UK, so far, has been different to the US. Rather than controlling access to genomic information, the British approach has been to consider: the quality of the information provided; the context in which it is provided; and the claims made about the value of the information.

The UK Human Genetics Commission has considered DTC extensively in two detailed reports (7), public consultations, an international stakeholder workshop and evidence-gathering meetings. A common Framework of Principles for DTC genetic testing services was published in August 2010 (8) promoting high standards and consistency to protect people considering buying these tests and services. The Principles include recommendations on issues such as laboratory accreditation and consumer trading standards. They aim to ensure companies do not make misleading claims, and instead provide accurate verifiable information and operate transparently.

The Principles say that, if analysis and interpretation of a genome is being marketed as providing medical information, the test provider should have to meet certain requirements. In particular, the claims of potential medical benefit should be verifiable. In addition, the person buying the service should understand what they are buying and have some measure of its quality.

When customers seek a genetic test, the Principles say they should be required to give appropriate consent to the current and future use of their DNA sample and information. If harm is caused, they should have an opportunity for redress. For many health-related questions, this may be best provided in the context of general health care provision. However, the Principles say the same standards should apply.

The goals of the Principles won't be met by applying concepts and regulatory tools stemming from an era where virtually all genetic testing was clinical to DTC testing where many traditional boundaries - between patients and consumers, and, to some extent, between expert and lay persons are blurred (9,10).

Although it is not certain that the advisory board's recommendations will lead to legislative or regulatory action, the FDA's activities have already had some (arguably unintended) consequences. They have polarised discussion about the benefits and downsides of DTC genetic testing. What's more, the considerable attention that health authorities have paid to DTC genetic testing has ironically fostered the understanding that these tests typically provide meaningful and actionable health information.

A genome as information is very different to a genetic test, but in the debate over DTC genetic tests there is a confusion and conflation of the two. The solution of making DTC genetic services only available through a physician both overemphasises the medical value of the genome analysis and also minimises the importance of appropriate quality standards.

01) For a full list of questions, see here:
Genomics Law Report |  24 March 2011
02) Ault, A. FDA Advisers See Strong Physician Role in DTC Genetic Tests
Internal Medicine News |  10 March 2011
03) Khan, R. Your genes, your rights - FDA's Jeffrey Shuren misleading testimony under oath
Gene Expression blog |  9 March 2011
04) Bloss, C.S, Schork, N. J, Topol, E. J Effects of Direct-to-Consumer Genomewide Profiling to Assess Disease Risk
New England Journal of Medicine 364: 524-534. |  12 January 2011
05) Kaufman, D, Murphy Bollinger, J, Devaney, S, Scott, J Direct from consumers. A survey of 1,048 customers of three direct-to-consumer personal genomic testing companies about motivations, attitudes, and responses to testing. (Abstract 390)
Presented at the American Society of Human Genetics conference in Washington, DC |  5 November 2010
06) Vorhaus, D Looking Ahead After the FDA's DTC Meeting
Genomics Law Report |  9 March 2011
07a) Genes Direct available at:
Human Genetics Commission |  1 March 2003
07b) More Genes Direct available at:
Human Genetics Commission |  1 March 2007
08) Common Framework of Principles for direct-to-consumer genetic testing services available from:
Human Genetics Commission |  1 August 2010
09) Prainsack, B, et al Misdirected Precaution
Nature 456: 34-35 |  6 November 2008
10) Reardon, J. The 'Persons' and 'Genomics' of Personal Genomics
Personalized Medicine 8(1): 95-107 |  1 November 2010
26 September 2011 - by Professor Sandy Raeburn 
First, here is the bad news. Readers attracted by this title are in for a stormy and depressing journey. The writing, both in choice of language and sentence construction, is turgid. The problems of 'plain English' start in the six-page introduction, reach a low point in the ethical chapter and only improve slightly in the legal section...
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