By Helen Wallace

The recent investigation of direct-to-consumer genetic testing companies by the US Government Accountability Office has highlighted a debate about gene test regulation that has been ongoing on both sides of the Atlantic for well over a decade. While the issues raised in the debate have been similar in all countries—focusing on the quality of tests and their interpretation and issues of privacy and discrimination—there are also significant differences.

Historical context and the current market

Concerns about DTC genetic testing are not new, although they have drawn the attention of a much wider audience since the highly-publicized launch of 23andMe and DeCode's online gene test services in 2007. As Stuart Hogarth describes in a recent article, the US Task Force on Genetic Testing first warned in 1997 that the rapid pace of commercialization of new genetic tests would one day outstrip any capacity for oversight.1

In the UK, a commercially unsuccessful DTC service for cystic fibrosis carrier testing was launched in 1995, leading to the launch of a UK Code of Practice in 1997. This was followed in 2002 by the first attempt to market a panel of genetic tests associated with dietary advice in British high street stores. Sciona, the UK company responsible for the tests, moved to Boulder, Colorado in 2003, citing adverse publicity about its products. Sciona later became the main subject of the first GAO gene test investigation, published in 2006, and ceased to trade in 2009. In the meantime, a succession of other small companies entered the market. In the UK, this included both US and UK companies, marketing via the internet, private medical practices and alternative healthcare providers, all making unsubstantiated or misleading claims. 

Beginning in 2003, the UK advisory body, the Human Genetics Commission (HGC), issued two reports raising concerns and proposing voluntary guidelines and additional oversight for DTC genetic tests, but in practice it abandoned the 1997 Code of Practice established by its predecessor committee, arguing that it had only an advisory role, not a regulatory one. The Medicines and Healthcare Regulatory Agency (MHRA), which could have regulated the tests, instead became a member of the Ministerial Medical Technologies Strategy Group, a body co-chaired by government and industry with the aim of promoting a shift to 'early health' in the UK National Health Service (NHS) (including genetic screening and pre-symptomatic treatment) and resisting regulation on the grounds that it would stifle innovation.2 The net result is that no action has been taken to prevent misleading marketing, either by the authorities or the companies themselves, although the HGC has recently published a further voluntary Code of Practice.

In 2008, a Sunday Times investigation revealed significant discrepancies in genetic risk predictions provided to the journalist by 23andMe, DeCode Genetics and the UK company Genetic Health.3 This report highlighted that 'genetic information' is actually an interpretation of a DNA sequence that may differ substantially depending on what is tested and the assumptions made. The investigation covered not only tests being marketed DTC via the internet but also misleading claims being made about gene tests sold via doctors in private healthcare clinics.4 An investigation of DTC genetic tests by the European Technology Assessment Group (ETAG) also raised serious concerns, including poor quality of information, lack of counselling and the testing of children.5

The leaders in the gene test market all remain loss-making companies, with a small customer base, and DeCode Genetics has declared bankruptcy.6 There is anecdotal evidence that, rather than being 'early adopters' in an expanding market, many of their customers may represent a clique of true believers—many working in the industry—plus the professionally curious (ethicists, social scientists, geneticists and journalists), in a sea of more skeptical consumers who remain to be convinced.

Although these companies undoubtedly have customers in the UK and elsewhere in Europe, the market is likely to be a small fraction of the total number of tests sold. More limited marketing efforts than in the U.S., plus less consumer interest and trust in commercially provided health information, may both play a role.

However, there is also evidence that access to customers within the UK National Health Service (NHS), via a public-private partnership would be attractive to many gene testing companies. In particular, companies are interested in accessing biological samples for research purposes and some-including 23andMe-then advocate feeding back unvalidated research results to research participants. There has been an ongoing dispute within the UK regarding the extent to which DNA samples and electronic medical records stored within the NHS might be accessed for such research without consent.2 Whilst the British public is supportive of medical research, there is little support for abandoning consent or for widespread data-sharing with commercial companies, who are commonly presumed to be more interested in profiteering than in improving health. There are also significant privacy concerns.

Role of publicly-funded health services

On the one hand, some policy-makers and advisors have argued that the publicly-funded NHS has a key role to play in driving the supposed genetic revolution in healthcare. From this perspective, the NHS is a unique resource to mine genetic and other healthcare data from the entire UK population and make predictions regarding genetic susceptibility to common diseases. In this vision of the future, DTC genetic tests would form part of a shift to a new system involving greater use of public-private partnerships in the NHS, including a major shift to 'pre-symptomatic' treatment and the possibility of individuals making top-up payments for extra tests and treatments. A major expansion in the drug and healthcare market is expected as a result.2

On the other hand, many medical professionals remain skeptical of the value of genetic susceptibility testing and concerned about unregulated DTC testing impacting on taxpayer-funded services by requiring costly, time-consuming and medically unnecessary follow-up. The adoption of meaningless or misleading tests within the NHS itself is also likely to be resisted by professionals anxious to maintain standards of care as well as by the need to procure cost-effective public services. There is strong support for only introducing tests which make a difference to health outcomes, i.e. which would alter advice or clinical management, or which significantly reduce uncertainty for people at high risk of a familial disorder. Until recently, this view was in conflict with political pressures, particularly in the UK, to move as quickly as possible to whole genome screening of the general population on the grounds that this would stimulate a new biotech economy. However, economic realities and a change in UK government, combined with greater sensitivity to privacy concerns, means that there is now less political enthusiasm for introducing innovations without assessing health outcomes and cost-effectiveness.

Thus, the debate about genetic testing within the EU is focused on protecting and improving existing genetic testing services and preventing DTC tests from undermining either these services or health services more broadly.

The Eurogentest Network of Excellence was funded by the European Commission from 2005 to 2010 with the aim of establishing harmonized, quality genetic testing services in Europe.7 It has done much to improve laboratory accreditation, survey existing services, involve patients and issue guidelines. A recent Eurogentest book includes extensive discussion of the need to evaluate the clinical validity, utility and cost effectiveness of tests.8 Whilst opinions on the role of regulation vary, there is consensus on the need for such assessments before new tests are introduced into publicly-funded European health services. At the same time, there is considerable skepticism that tests for genetic susceptibility to common, complex diseases—as opposed to tests for rare disorders or predisposition to rare familial forms of common disorders—will prove of much clinical value.

A recent UK report, based on five expert workshops, whilst recognising enormous progress in genomic science, concluded that: "the importance of genomics for the prediction and prevention of common complex diseases has been overestimated (though there is little doubt about its potential to provide a better understanding of disease mechanisms)."9 The report found that genomic medicine should focus on diagnostic and cascade testing (screening family members) for single gene disorders and inherited subsets of complex disease, plus the use of specific pharmacogenetic tests to predict and monitor individual drug response. The report also advocated a media strategy "which focuses on 'myth-busting' (rather than creating further hype around genomics) without undermining research."

Eleven professional genetics societies in France have gone further by issuing a statement criticizing the underlying theoretical basis for calculating risk of common diseases based on multiple genetic variants and concluding : "While genome wide studies provide an essential contribution to scientific knowledge of multifactorial diseases, the isolated use of information provided by them lacks any capacity to predict future onset of those diseases. It leads to an erroneous perception of the risk for the individual."10 This statement reflects increasingly widespread doubts about the scientific basis of this approach to health.11 It is currently being discussed within the European Society for Human Genetics (ESHG).

Although the value of pharmacogenetic testing in specific circumstances is widely recognized, European medicines regulators and clinicians have also preferred the approach adopted by US medical insurers of waiting for more convincing data from clinical trials before such tests are introduced: for example, in the context of prescribing warfarin.12

Regulation and the single European market

Healthcare is the responsibility of the individual member states of the European Union, but the EU also creates a free market for the delivery of people, goods and services, which requires the harmonization of quality standards. In theory, standards for genetic tests are covered by the In-vitro Medical Devices Directive (IVDD). However, the IVDD is widely regarded as inadequate, having failed to keep up with developments in science, technology and marketing, and is also interpreted in widely different ways in different member states. One overarching problem is that genetic tests are classified as 'low risk', meaning that the manufacturer has sole responsibility for ensuring its own compliance and awarding itself the 'CE mark' that allows it to trade. In addition, some member states (especially the UK) interpret compliance as requiring only demonstration of analytical validity, not clinical validity. There is also a lack of clarity about whether genetic susceptibility tests are categorised as medical tests under the Directive, and about whether some laboratory-developed tests should be covered by the provisions. These difficulties of interpretation mean that even the self-assessment of health-related genetic tests is lacking in many cases. Thus, regulation is weaker than in the U.S., where only laboratory-based tests, not tests sold as manufactured kits, have escaped FDA oversight. The IVDD is currently undergoing a long process of revision and a current consultation is seeking views on these issues.13

In the meantime, legislation covering genetic tests has been introduced at the national level in some countries (although not the UK). For example, Germany has established a commission to evaluate genetic tests and requires counseling to be provided by a suitably qualified medical professional unless the subject has waived the offer of such counseling in writing.

The situation in Europe is further complicated by the role played by the European Convention on Human Rights and Biomedicine, which was adopted by the Committee of Ministers of the Council of Europe in 1996 and opened for signature in Oviedo, Spain in 1997. The Council of Europe has a wider membership than the EU: thirteen member states of the EU have ratified the Convention, obliging them to ensure that their national legislation conforms to its provisions. An additional Protocol on Genetic Testing, adopted in 2008, has to date been ratified only by Slovenia, but includes important provisions requiring states to ensure that genetic tests meet criteria of scientific and clinical validity, laboratory quality assurance and clinical utility, and that appropriate counselling is provided.14 Bringing the IVDD into line with the Protocol, as well as with the OECD's Recommendations on Quality Assurance in Molecular Genetic testing, would allow a consistent approach to gene testing across Europe and protect consumers from misleading claims.15 This approach has been supported by the ESHG in its recent policy on DTC genetic tests.16


In most European countries, including the UK, there is a total lack of regulation of DTC genetic tests, although a small number of countries have imposed national restrictions. Although the market for DTC tests is currently small, there is significant concern that misleading tests will impact adversely on patients and also divert healthcare resources from those in need to providing unnecessary follow-up tests and treatments to the 'worried well.'

In contrast to the USA, political enthusiasm for transforming health services to enable the genetic 'prediction and prevention' of common diseases appears to be waning within Europe (although it has not been abandoned). This is due to a more realistic view of costs, privacy implications, and serious doubts about whether the claimed health benefits would actually be delivered. Thus, economic realities and professional concerns are likely to restrict the adoption of genetic susceptibility tests by publicly-funded healthcare services for the foreseeable future.

Whether DTC genetic tests will be adequately regulated by revising Europe's IVD Directive is currently uncertain. However, an extensive market in unregulated tests in Europe looks increasingly unlikely as health services seek evidence of the validity and usefulness of tests before their introduction. Responsible companies may find their best hope of survival lies in focusing on developing and refining tests which actually improve health outcomes for members of the public. This requires a very different business model from that being followed by the current market-leaders. Instead of treating whole genome sequencing as inevitable, it implies a focus on specific tests for use in high-risk families or prior to prescribing certain drugs. To succeed in the European market, it seems likely that in the future companies will need to demonstrate that their products provide benefits to health. In turn, this implies revisiting the underlying basis of long-standing but unsubstantiated claims about the genetic 'prediction and prevention' of common diseases in the general population.17                                      


Helen Wallace is Director of GeneWatch UK, a research and public interest group that investigates the environmental and social impacts of genetic science and technologies.



1. Hogarth, S. (2010) Myths, misconceptions and myopia: searching for clarity in the debate about the regulation of consumer genetics. Public Health Genomics 13:322-326.

2. GeneWatch UK (2009) Is 'early health' good health? GeneWatch UK Briefing. April 2009.

3. Fleming, I (2008) Rival genetic tests leave buyers confused. The Sunday Times. 7th September 2008.

4. Further information is available on:

5. European Technology Assessment Group (2008) Direct to Consumer genetic testing. November 2008.

6. Henderson, H. (2010) Cashing in on your genes. The Times, 7th January 2010.


8. Kristofferssson, U. Schmidtke, J., Cassiman, J.-J. (Eds) Quality issues in clinical genetic services. Springer. 2010.

9. PHG Foundation (2010) Genomic Medicine. An independent response to the House of Lords Science and Technology Committee Report. May 2010.

10. How seriously should we take risk predictions for multifactorial illnesses? Available on:

11. Wallace HM (2006) A model of gene-gene and gene-environment interactions and its implications for targeting environmental interventions by genotype. Theoretical Biology and Medical Modelling, 3 (35), doi:10.1186/1742-4682-3-35.

12. Prasad, K. (2009) Role of regulatory agencies in translating pharmacogenetics to the clinics. Clin Cases Miner Bone Metab.  6(1): 29-34.

13. Available on:

14. Additional Protocol to the Convention on Human Rights and Biomedicine concerning Genetic Testing for Health Purposes CETS No.: 203

15. Wallace HM (2008) Most gene test sales are misleading. Nature Biotechnology, 26(11), 1221.

16. European Society of Human Genetics (2010) Statement of the ESHG on direct-to-consumer genetic testing for health-related purposes. European Journal of Human Genetics 1-3.

17. GeneWatch UK (2010) History of the human genome. GeneWatch UK briefing. June 2010.

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