The brief Golden Age of direct-to-consumer genetic testing – in which people could freely gain access to their own genetic information without a doctor’s permission – may be about to draw to a close. In a dramatic week, announcements of investigations into direct-to-consumer genetic testing companies by both the FDA and the US Congress have sent the personal genomics industry into a spin, and it is still impossible to say exactly which way it will be pointing once the confusion passes.
I have a few overall points to make here.
The end of direct-to-consumer disease genomics?
Nothing is certain yet, but it’s entirely possible that these events mark the beginning of the end of DTC genetic testing for health-relevant traits.
The DTC personal genomics industry has so far enjoyed a bizarrely prolonged period of respite from the stifling regulatory embrace of the FDA and other regulatory bodies (while the technical validity of all of the major personal genomics companies is governed by the Clinical Laboratory Improvement Amendments of 1988
, there’s currently no regulation regarding the interpretation of the raw data).
It has always seemed inevitable that this period would end with a regulatory crackdown, although the precise nature of the eventual regulation – and the events that would trigger the regulatory hammer to come down – were impossible to foresee. Now the hammer is dropping, and although its aim seems capricious (see below), there’s little doubt that its long-term impact will be massive. It’s certainly not beyond the realms of possibility that companies will be forced to entirely discontinue DTC provision of information for any health-relevant trait.
Personal genomics companies are to some extent prepared for this eventuality. For instance, several of the major companies (e.g. Pathway and 23andMe) have split their disease risk predictions into a separate product from their more “recreational” offerings
(such as ancestry, genealogy and non-disease traits), potentially allowing them to maintain a DTC revenue stream even if the DTC disease genomics angle was blocked. (Kudos to Dan Vorhaus for spotting the motives for this behaviour
back in July last year.)
Today, GenomeWeb reports that at least one DTC company has gone even further and dropped its direct-to-consumer offering entirely
. Navigenics could probably also drop its DTC offering without much harm to its sales, since the company has by all accounts been spectacularly unsuccessful in tapping the DTC market. We may well see the same approach taken by other personal genomics companies in an attempt to stave off the regulatory claws of the FDA.
This outcome would be an absolute tragedy for those of us interested in thoroughly exploring our own genomes. Anyone who has ever tried to get the raw data from their own medical tests from doctors will know how ludicrously difficult this is, due to a combination of bureaucratic incompetence and litigation-shy clinicians. Now imagine that difficulty, multiplied by the sheer scale of genome-level data and the near-complete ignorance of the vast majority of doctors about genetic information.
Comedic blunders from the FDA
While confusion reigns in the DTC genetic testing industry, this whole episode has revealed one thing very clearly indeed: absolute incompetence on the part of the FDA. One cannot help but shudder at the fact that such a transparently clueless agency wields so much power over so many industries.
In a great article over at GenomeWeb, Kirell Lakhman points to a series of contradictions
in public statements made by the FDA over the last week (in what he refers to as a “seemingly uncoordinated and contradictory investigation”).
In addition, the motive for stomping specifically on Pathway seems entirely arbitrary. Gutierrez said in an interview with Pharmacogenomics Reporter
(subscription only) that “The fact is that Pathway’s bold move to make themselves noticed achieved its end and brought them to our attention”, suggesting that the agency would have been happy to let DTC companies continue to operate if they’d done so more quietly.
It’s a doubly bizarre statement given that the industry in general (and 23andMe in particular) has been conducting aggressive marketing campaigns to the wider public for a long time. Why did the Walgreen’s campaign overstep the mark any further than, say, 23andMe’s appearance on Oprah or its zeppelin campaign? It’s impossible to know, especially in the complete absence of any substantive guidance from the FDA on what is or isn’t acceptable behaviour.
Do we need FDA regulation?
Regular readers will know that I think – for all its faults – the personal genomics industry provides a net benefit to society. Sure, the information provided by personal genomics tests currently has limited utility in terms of health prediction, at least for most of us; but by allowing people to engage with their own data, and generally doing a pretty good job of conveying the complexity and uncertainty of modern genetics, personal genomics companies are non-trivially increasing genetic awareness and literacy, an important public service as we enter the genomic era.
It’s worth emphasising that the major personal genomics companies have done a fairly respectable job of self-regulation so far: 23andMe et al. generally present genetic risk information in a way that is far more accurate and accessible than anything we have seen (or are likely to see in the near future) from the medical profession.
It’s also important to note that precisely zero evidence exists for the notion that genetic test results are likely to cause serious harm to consumers
. So while Arthur Caplan
may fret over the idea that customers assigned a low risk of heart disease might “go off and drink milkshakes all day”, the existing sociological evidence suggests that genetic risk data alone has relatively little negative effect on consumer behaviour or mental health.
There certainly is room for regulation that filters out the bottom-feeders
in the industry – but that is not necessarily a job best done by the FDA. As Dan Vorhaus points out
, the Federal Trade Commission, as an agency focused on consumer protection, might be well-placed to step in. In addition, the recently-announced NIH genetic test registry
– particularly if it is made mandatory – will hopefully serve as a valuable resource for consumers, allowing them to make informed decisions without requiring them to have an ill-informed clinician hold their hand while they do it.
By all means prosecute companies that make false claims of fact or provide poor-quality assays. By all means provide consumers with additional resources to allow them to make informed decisions. But don’t create regulation that makes it hard for new companies to enter the space or introduce new technologies; and if people decide that they don’t need their doctor to peer into their own DNA, let them make that choice.
After years of speculation, the long-awaited crackdown has come. Exactly what type of industry will emerge from the other side is still completely unclear, and we can only hope that regulators restrain themselves from the heavy-handedness they have inflicted on other industries.
Personal genomics is a young field, but it’s also a crucible for the future of personalised medicine. Excessive regulation at this stage will cripple innovation in the industry by raising the cost of starting new businesses and developing novel approaches. If the FDA is given free rein to stifle the field with formidable regulatory requirements this will do long-term damage to the development of personalised medicine.
I’d encourage US readers to make their thoughts on this known – write to your politicians, tell them what you’ve learned from your own genome, and inform them about what a terrible idea excessive regulation would be for the future of medicine.