02 April 2012
ByAppeared in BioNews 651
By Dr Peter Border and Dr Ana Padilla
Published by the Parliamentary Office of Science and Technology
Last week the Parliamentary Office of Science and Technology (POST) released a POST Note - a guide for MPs and other parliamentarians on science and technology issues - on consumer genetic testing.
Consumer or direct-to-consumer (DTC) genetic testing services appeared on the market over a decade ago and can be used to test for a range of common and complex diseases, potential drug responses, as well as to investigate ancestry.
The Note covers several key legal, ethical and scientific issues raised by DTC genetic testing for predisposition to disease. It warns of the questionable scientific validity of the tests themselves and the potential for misleading information and marketing schemes online.
It also raises the concern that customers may misunderstand the interpretation of their genetic data, in turn burdening the NHS's already overstretched clinical genetic services with visits from worried DTC users. Furthermore, it notes that there are implications for third parties, such as family members.
The Note highlights the lack of effective regulatory protections governing the provision of DTC genetic tests in the UK, the EU and the USA - important because a large proportion of the DTC market is based in the USA, and UK customers can access them online.
As the tests are mostly 'in-house' or laboratory developed tests they fall into the low-risk category of the EU's In Vitro Diagnostics Directive and equivalent US federal regulation. This excludes them from any pre-market approval that would ensure their clinical utility or validity.
The Note predominantly focuses on the lack of provisions to ensure proper customer consent, the correct interpretation of test results, or the appropriate genetic counselling. However, at the same time, it acknowledges the need to encourage innovation in the market and access to genetic technologies.
While it is a useful and comprehensive overview of the literature and policy recommendations to date, I have some concerns about its approach.
First, it is unclear why the Note singles out genetic testing for diseases or conditions. It states that these tests 'have aroused [the] most interest'. If it is referring to consumer interest this is, perhaps, misleading as it is widely acknowledged that other services such as ancestry testing have proved the most popular.
It is therefore illogical to restrict discussion of DTC tests to mirror the concerns, policies and practices involved with the genetic tests provided on the NHS, as these have been vetted for their clinical validity and utility.
There is growing evidence to suggest that medical use isn't the only measure of the value of genetic tests. More people are becoming interested in the tests, and the accompanying online social networking forums, for their purely scientific and recreational nature.
Other studies of consumer perceptions have found that, on that whole, customers understand the limitations of genetic risk estimates provided online. Instead, I think the focus should be on ensuring truth in marketing, and accuracy in genetic information.
Third, the Note suffers from over-generalisation. Like any consumer market there are examples of rogue 'garden shed' genetic testing services which pose a threat to consumer interests, but this overlooks the reputable companies. Take 23andMe, who have over 100,000 customers and have introduced policies and practices to address some of these concerns. These include comprehensive information pages on the diseases and conditions they test for, and the creation of established criteria to ensure consistent and accurate reporting of gene-disease association.
In order for discussion of DTC genetic testing to move forward in a coherent, fair, and productive manner, there needs to be more focus on the consumers' perceptions, company practice and the market itself. We should not restrict our frame of reference to clinical and health-related policies and practices.