Personal genomics attracts the might of US regulators

20 May 2010

Since the announcement last week that Pathway Genomics was intending to offer personal genome scans over-the-counter in the United States (US) (see previous news), the world of consumer genomics has been thrown into disarray. Until this announcement, regulatory bodies such as the US Food and Drug Administration (FDA) have done little more than keep a watchful eye on the area of direct-to-consumer (DTC) genetics tests. However, following the announcement that these tests might become available in high street stores, rather than just over the internet,  the FDA wasted no time in issuing a letter to the company the very next day asking for proof that the test had proper FDA approval or to explain why such approval is not necessary (see MSNBC news). A US official has since said that "selling a test over the counter without an FDA clearance, particularly for the type of claims they have, is not legal" (see the Economist). Within 48 hours of the original announcement, the retail stores involved reversed their decision to offer consumer genetic tests, pending a resolution by the FDA (see the Wall Street Journal).

The FDA has grappled with how to regulate the growing number of DTC genetic tests for several years, and it is still rather unclear how exactly these types of tests should be regulated (see the Genomics Law Report for an extensive summary of the current regulatory landscape). Nonetheless, at the end of a turbulent week, the US House of Representatives Committee on Energy and Commerce today launched an investigation into DTC genetic testing (see the official announcement). In a letter sent to three prominent American DTC companies (23andMe, Pathway Genomics and Navigenics) the Committee has requested information within the next few weeks on how individual risk of disease is determined and policies regarding the collection, storage, and processing of individual genetic samples.

Bizarrely, today’s announcement was accompanied by a rather contradictory revelation that students at University of California, Berkeley, will be offered free genome scans when they arrive (see New Scientist). This move is likely to draw both widespread excitement and condemnation in almost equal measures, due to the perceived usefulness of this information in future for individuals to improve their own health, and pertinent ethical concerns over data privacy and misinterpretation of the information (see coverage in the New York Times).

Comment: Given the lack of evidence of utility of these types of tests (see previous news), it seems a little premature to dismiss a number of very real concerns associated their increasing availability without good reason, and some level of regulation is certainly warranted. Before such tests can be offered legitimately with claims of improving health, evidence is needed that they are both scientifically valid and clinically useful.

That said, given the nature of the tests – most of which currently only analyse common variants and have very limited predictive power for individuals – regulators must be clear what ‘harm’ they are trying to prevent. Direct harms are unlikely to result from in vitro saliva-based tests, and the analytical accuracy of the genotyping assay itself is very high. Therefore, the possible indirect harms that could result from misinterpreting the information, such as psychological distress or false reassurance, are the main reason to regulate the tests. However, to date, there is very little evidence that these harms are actually occurring or causing a problem; moreover, regulating ‘interpretation’ is very difficult. Thus, there is a need to provide oversight of all DTC testing services, genetic or otherwise, to address these issues without taking an overly paternalistic approach that limits individual choice unnecessarily. Transparency of information, ensuring access to support from trained professionals, and preventing overhyped or misleading claims that are not backed up with robust evidence may be the best approach.

Perhaps the greatest harm of all is immeasurable – namely a possible loss of faith throughout society in the power of genetics. Once people realise that a genome scan is not a crystal ball, but a tool to investigate biology, there could be a backlash against the enormous worldwide investment in genomics research. Therefore companies, regulatory bodies, and professionals have a duty to diffuse the hype surrounding these tests and ensure that individuals are well informed enough to understand what they are buying.

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