From principles to practice: the shifting regulatory landscape for consumer genetics

Earlier this month the UK's Human Genetics Commission (HGC) published a new document entitled A Common Framework of Principles for Direct-to-Consumer Genetic Testing Services (1) in a bid to define standards for this emergent sector. The principles cover all aspects of direct-to-consumer (DTC) genetic testing services including marketing, information for consumers and consent. Much of the emphasis is on ensuring that companies make responsible claims supported by good scientific evidence and provide accurate interpretation and clear guidance on the significance of test results.

Shortly before the launch of the Principles, a US Congressional hearing (2) was presented with a Government Accountability Office (GAO) investigation (3), which revealed disturbing evidence of malpractice by DTC genetics companies: a woman with an above average risk of breast cancer was told 'You'd be at high risk of pretty much getting it'; a customer was encouraged to surreptitiously take a DNA sample from their fiancé and have it tested without their knowledge; companies failed to adequately warn customers from African-American and other racial minority groups that the results reported were based on studies in Caucasian populations and would therefore be of unclear significance to them. Adding to the evidence of malpractice were familiar criticisms of the sector as a whole: our scientific understanding of the genetics of common diseases is limited and current tests are of questionable clinical utility. The need to protect consumers from being misled and/or harmed has never been clearer.

The UK HGC's principles are just a starting point for developing a code of practice. Without translation into a code of practice with some oversight of adherence, these principles are likely to have little effect. The question now is whether the UK government will introduce such oversight. Ironically, a code of practice did exist in the UK in the 1990s but got lost in a bureaucratic muddle when the government reorganised the system of advisory committees on biotechnology (for further details, see (4)).

In the US, home to most consumer genetics companies, attention is now focused on the federal Food and Drug Administration (FDA), whose regulatory authority over diagnostic tests has hitherto rarely been applied to this sector. The recent Congressional hearing is the second at which the Agency has been directed to take control of this market. After the first in 2006, the FDA wrote letters to a number of companies, but the outcome of that process was unclear and progress was hindered by continued uncertainty about the FDA's approach to the regulation of laboratory-developed tests (LDTs), i.e. tests which are developed and then delivered within a single clinical laboratory.

The FDA has traditionally concentrated on test kits sold by manufacturers to multiple laboratories, but successive government advisory committees have called for it to extend its authority to genetic tests produced as LDTs (for a variety of reasons many genetic tests are produced as LDTs rather than as kits). Since Obama's election to the White House, there has been a change of leadership at the FDA and promise of a renewed commitment to the Agency's public health mission. The details of how the FDA will tackle the consumer genetics industry and the wider LDT sector remain uncertain but its broad intent is clear.

So what else is happening? Probably the most notable developments are Germany and Australia are introducing bans on DTC genetic tests. Germany is doing so through a law which is targeted solely at genetic testing, but in Australia the ban is part of a far wider revision to their medical devices regulations, and a range of other tests will also cease to be available DTC.

Some have suggested that the UK HGC's principles represent a preference for soft law mechanisms rather than statutory regulation by a powerful agency like the FDA. In fact, the principles are only one part of the HGC's vision for a credible regulatory framework for genetic testing. Perhaps most importantly, they have consistently recommended that the European regulations which govern clinical tests (the In Vitro Diagnostic (IVD) Directive) should be changed to ensure that all new commercial genetic tests are subject to premarket evaluation. This does not happen now because genetic tests, like nearly all other diagnostic tests, are treated as low-risk and therefore exempt from pre-market evaluation. The change advocated by the HGC may well be brought about in the near future - the European Commission has launched a consultation on the future of the IVD Directive and has suggested that a more stringent approach to risk classification could be adopted, ensuring premarket review of new genetic tests. The consultation also asks whether special measures are needed for DTC genetic testing.

Regulation won't make things perfect, but it can make things better. It will require compromise between the 'it's my genome, the government should leave it alone' camp, and those who think consumer genetics should be banned outright. There is a well mapped-out middle ground, but what we have lacked is the political will to act; in Europe and the US that seems to be changing. The challenge we now face is how to ensure that the new regulatory landscape is one that protects consumers and supports responsible innovation.