In a surprising move, an energetic U.S. Food and Drug Administration (FDA) recently approved the first direct-to-consumer genetic carrier test. The irony is that the approval went to 23andMe’s test for Bloom syndrome, an autosomal recessive disorder affecting DNA helicase and characterized by short stature and predisposition to various cancers. It is ironic in that this is the same company that was virtually shut down by the FDA a little more than a year ago for its direct marketing to consumers of its saliva-based genetic testing as "health reports" with implied health benefits. Since then, 23andMe has moved into the ancestry tracing business, so this approval comes as a surprise and latent response to a prior filing for approval by 23andMe.
Even more astonishing was the accompanying FDA statement, "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. Today’s authorization and accompanying classification, along with the FDA’s intent to exempt these devices from FDA premarket review, supports innovation and will ultimately benefit consumers." This sea of change in attitude and approach paves the way not only for many more genetic carrier tests, but for accelerated market entry as premarket approval is no longer being required.
Two significant things append to this. The first is that the FDA now views genetic carrier tests as sources of information for the benefit of consumers, and not as Class III health devices requiring FDA regulation. The second is that direct-to-consumer, and eventually over-the-counter, sales are now possible for close to 100 recessive disorders, validating 23andMe’s model, though perhaps not its original strategy.
While carrier testing is quite different from DNA based diagnostic testing - for example, the presence of an infectious disease or up(down)regulated markers for inflammatory diseases and cancers - this ruling does pave the way for building the market foundation for direct consumer testing in this area, which includes close to 2,000 such tests today.
According to the American Medical Association, there are four main clinical uses for DNA sequencing:
Missing from these categories is nutrigenomics; the ability to measure the effect of nutrients on gene expression, which is related to pharmacogenomics but more focused on human-as-consumer rather than human-as-patient.
A number of technologies and business developments are converging on this future. Companies like uBiome (client registration required) and Metabiomics (client registration required) are pushing the sequencing of human borne bacteria to create unique individual physiologic profiles, either as a state of health in the case of uBiome or in a disease state with Metabiomics. UBiome offers their services direct to consumers.
On the hardware front, companies such as QuantuMdx (client registration required) and Diagenetix offer handheld DNA analyzers. As cost continues to decrease, and miniaturization (convenience form factor) continues to increase, we expect to see increasingly ubiquitous application of nucleic acid analysis in a variety of contexts.
As the FDA relaxes original guidance and views genetic data as information products and not health products per se, as hardware costs come down and products become increasingly handheld, and as business models evolve to offer increasing services to consumers, we believe that the information/hardware/business model convergence will lead to huge new market opportunities, such as nutrigenomics, which measures how people respond to food and nutrients. This will push the frontier of health and wellness firmly into the consumer (and not patient) space. Stay tuned.
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