The shifting sands of direct-to-consumer genetic test regulation

Philippa Brice

23 February 2015

Personal genomics company 23andMe has taken the first step back towards direct-to-consumer (DTC) genetic testing in the US with regulatory approval granted for a single condition by the Food and Drug Administration (FDA).

The company was actively prohibited from all medical forms of DTC genetic testing by the FDA in 2013, apparently due to a lack of compliance with the requirements of the regulatory processes. However in June 2014 they submitted an application to the FDA to produce health reports on carrier status for a single condition, Bloom Syndrome, which has now been authorised. Bloom syndrome is a rare genetic disorder most common among Ashekenazi Jewish populations, associated with features including an increased risk of cancer.

Change in stance on direct-to-consumer genetic testing

The FDA said that it was classifying autosomal recessive  carrier screening tests (including that for Bloom Syndrome) as class II and would exempt them from premarket review, in order to create ‘the least burdensome regulatory path’ for market entry.  Importantly, they also commented on the fact that this latest approval effectively rescinds their earlier prohibition on genetic testing other than via clinicians.

Dr Alberto Gutierrez, director of the Office of In Vitro Diagnostics and Radiological Health, said: “The FDA believes that in many circumstances it is not necessary for consumers to go through a licensed practitioner to have direct access to their personal genetic information” adding that the decision “supports innovation and will ultimately benefit consumers”.

However, the FDA is hardly throwing caution to the winds. Rather, they carefully observe that ‘No test is perfect’ and that only people with a family history of a genetic disorder are normally recommended to have carrier testing. They have also stipulated that the test results must be ‘conveyed in a way that consumers can understand and use’ and that they must be provided with information about how to access a professional clinical molecular geneticist or similar expert for pre or post-test counselling.

23andMe response and plans

23andMe’s chief regulatory and legal officer Kathy Hibbs said:“We are pleased with the Agency’s decision and its affirmation that consumers can understand and benefit from direct access to genetic information”.

Company co-founder and CEO Anne Wojcicki hailed the decision as a major milestone for the company and consumers who want DTC genetic testing, thanking the FDA and adding: “we remain committed to pursuing a regulatory path for additional tests and bringing the health reports back to the US market”. The company, which launched a DTC personal genome testing product in the UK late last year (including medical condition testing), said it planned to develop a ‘comprehensive product offering’ before actually resuming DTC medical sales in the US.

Expert reaction

Professor of Epidemiology Cecile Janssens of Emory university noted in a blog post that ‘FDA approval does not mean that the Bloom syndrome carrier test is useful’ – and indeed, for most people, it would be highly unlikely to be useful: ‘which might explain why 23andMe is not offering the test starting tomorrow’.

Approval to offer genetic carrier testing for Bloom Syndrome and indeed other rare genetic disorders is not actually a major milestone for 23andMe, she suggests, since the main motivation for halting their original testing services was based on safety and efficacy concerns about testing for more common genetic variants linked with predisposition to disease or response to drugs.

PHG Foundation Director Dr Hilary Burton previously commented"As a society we know very little about how genomic tests can be used to improve health in healthy populations and we are certainly a long way off promoting or even supporting their use, in effect, as personal screening tests. However, we have to recognise a future where there will be much wider access to genomic and other tests for a variety of health and non-health related purposes”.

Fit-for-purpose regulatory systems for precision medicine

However, it seems increasingly clear that as genomic and personalised medicine continue to develop, creating a suitable regulatory framework alongside is crucial. Following news of the major new precision medicine initiative in the US, a new perspective by MIT professor Eric Lander published in NEJM  puts it succinctly: “The knotty problem is how to promote rapid innovation while ensuring safety and efficacy”.

Lander alludes to a previous perspective on precision medicine by Francis Collins and Harold Varmus, which noted the need for developing regulatory frameworks in order to ensure maximal health benefits for the public, as well as innovative new models for patient participation in research and ‘open, responsible data sharing’ (including with participants). He sees positive signs in an FDA discussion paper ahead of a meeting this month that a flexible, effective oversight system is possible.

23andMe obviously has a considerable amount of work to do in amassing the sort of data required by the FDA to demonstrate accuracy and safety of tests. Meanwhile the FDA and other national regulators have a significant task ahead of them in seeking to develop a suitable framework for oversight of personalised medicine applications in the post-genomic age.