FDA grapples with regulation of DTC genetic tests

26 July 2010

It has been another tumultuous few weeks for the world of consumer genetics. Following recent their announcement that the US Food and Drug Administration (FDA) would seek to regulate direct-to-consumer (DTC) genetic testing services as medical devices, communicated through a series of letters to the most prominent DTC genomics companies (see previous news), it has now sent a further 14 device notification letters out to a select but growing group of genetic test providers (see Genomics Law Report). The move occurred during the FDA’s widely publicised meeting on the regulation of laboratory-developed-tests (LDTs, see previous news), during which the matter of DTC tests was extensively discussed.

Meanwhile, the US House of Representatives Committee on Energy and Commerce conducted their own hearing on “Direct-To-Consumer Genetic Testing and the Consequences to Public Health” (see Genomics Law Report for full analysis). As well as receiving briefings from various experts, including representatives of three of the major US DTC companies (23andme, Navigenics and Pathway Genomics), the Committee was also presented with a recent report on DTC genetic testing from the Government Accountability Office (GAO).
Comment: The conclusions from these meetings are currently unknown and the outcome is difficult to predict either within the US or internationally. The GAO’s Report of it’s undercover investigation of DTC genomics companies is undoubtedly damaging, but is also overly alarmist and gives no indication of how widespread the bad practice might be in this versus any other industry. While there is general agreement that some level of regulation is required in this fledgling industry - to ensure that the genotyping is accurate and that consumers are not misled by extravagant and unfounded health claims - it is unclear what form that regulation should take. As clinical geneticist Dr Jim Evans points out in his testimony to Congress, “The gap between claims and reality should be closed. It doesn’t even require new regulations, just enforcement of existing standards that are, at least in part, promulgated and promoted by the Federal Trade Commission”.
In the continuing absence of any evidence of harm caused by these tests, and the likely increasing availability of whole genome sequencing and open source analysis software, regulators should avoid creating restrictive legislation or exhibiting unnecessary genetic exceptionalism. Although there is similarly scant evidence of utility of personal genomics, this is not (and should not) be a requirement for a product simply to be available for a consumer to choose to purchase. We believe that it is inappropriate to use existing medical device legislation to regulate DTC genomics services (which are neither simple devices nor used for medical purposes) and they may also fall outside attempts to regulate all LDTs as the genotyping assays are frequently performed at contracted laboratories. Instead, the PHG Foundation advocates a fairly liberal approach to regulation of DTC genetic testing services, in which transparency of information is paramount, and have previously identified five specific points where formal regulation would be welcome:
  1. INFORMATION: Appropriate information and a proportionate set of consent procedures should be in place prior to testing, such that the citizen is unambiguously informed about the nature of what he or she will receive by way of information and its possible implications
  2. ANALYTICAL VALIDITY: Laboratories providing an assay service should undergo accreditation procedures and subject themselves to stringent QA requirements (e.g. CLIA certification in the US), so that citizens themselves can have confidence in the genotypes that are generated
  3. SCIENTIFIC VALIDITY: Statutory regulations should be put in place to ensure that the scientific validity of the clinical claim is established, i.e. the link between the disorder and the genetic variant is established as a true and real relationship
  4. ACCESS TO ADVICE: All providers should ensure that consumers have access to named and appropriately qualified professionals with the necessary competence to interpret the assay measurement and provide advice and support to consumers regarding the interpretation of the test result to consumers
  5. CLAIMS: Guidelines and consumer protection regulations should either be strengthened to prevent misleading claims for the product or service, including unsubstantiated and overhyped assertions concerning clinical utility, or action should be taken to ensure that existing regulatory powers are enforced

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