FDA to regulate genetic tests as "devices"

14 June 2010

The US Food and Drug Administration (FDA) has dealt the controversial world of consumer genomics a major blow, by issuing five major companies with letters stating their intention to formally regulate the industry (see FDA archive). The letters – sent to 23andme, deCODEme, Navigenics, Knome, and the sequencing company Illumina – equate a personal genome service with a medical device, which falls under section 201(h) of the Federal Food, Drug, and Cosmetic Act. This action follows hot on the heels of the FDA’s recent intervention in relation to relative newcomer Pathway Genomics, which recently withdrew plans to sell its genome profile over-the-counter in the US (see previous news).
The Medical Device Amendments to the Act require premarket review and approval by the FDA of medical devices intended for human use, to ensure that they are analytically and clinically accurate “so that individuals are not misled by incorrect test results or unsupported clinical interpretations”. By allowing for independent and unbiased assessment, the Act aims to “protect the public from medical products that may pose an unreasonable risk of harm”.
Comment: The international implications of this move to regulate DTC genomics through statutory legislation, and how the test companies themselves will respond, remain unclear (see Genomics Law Report). The move will certainly be welcomed by some for providing long overdue protection for consumers from potentially harmful tests, and condemned by others as an unnecessarily paternalistic reaction to this fledgling industry.
Although there are many reasons why some kind of regulation in this area is advisable, regulators should proceed with caution and be clear about the harms they are trying to prevent (see our response to the UK Human Genetics Commission Consultation on their Common Framework of Principles for DTC Genetic testing services for a detailed analysis). One of the biggest issues is that, while classifying DTC genetics tests as devices is certainly appropriate for assessing their analytical validity and direct safety, it does not and cannot provide an assessment of the service. Unlike testing kits, for which the devices legislation is designed, genome scans include an additional element of interpretation provided by the companies. This aspect of the testing service is extremely difficult to regulate, not least because the interpretation and performance of the test vary substantially between different contexts. Hence standard medical testing has traditionally been overseen by professional medical bodies. Simply trying to classify the complete genomic testing service as “a device” is entirely inadequate and will not address the difficult issues at hand.
Such an argument might point towards requiring genetic tests to be ordered through registered health care professionals, as is now the case in various jurisdictions (for example, see previous news). However, this knee-jerk reaction points towards the nub of the problem: genomic risk profiling tests, in their current form, are simply not good enough to be used by health care services. They have scant evidence of clinical validity or utility, and are unlikely to yield clinically actionable results for individuals. Requiring the involvement of qualified medical doctors and genetic counsellors lends them greater legitimacy than is justified by the science. Even full genome sequencing is currently of limited use for most people (in the absence of a family history of an inherited disorder), and interpretation of the surfeit of data is far beyond the training and expertise of even the most well informed clinicians.
Nonetheless, this does not mean that a genome scan cannot provide interesting or useful information to individuals seeking to learn about their genomes, and to reduce access might considered to be unwarranted genetic exceptionalism. The best way to deal with this issue may be to ensure transparency and the provision of accurate information to consumers, to allow them to make informed decisions and to minimise the opportunities for harm.

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