I have posted a number of previous notes about 23andMe, a web-based, genomic testing company (see, for example: Pfizer and 23andMe Collaborate to Study Inflammatory Bowel Disease; 23andMe Customers: Suckers or Empowered Consumers?). The company has recently been approved by the FDA for direct-access genomic testing testing for Bloom Syndrome (see: What 23andMe's FDA Approval Means For The Future Of Genomics). This action is very significant for a number of reasons but, for me, the most important is that it may signify a new era in consumer-directed genomic testing. Below is an excerpt from the article:
...[T[he Food and Drug Administration approved a test made by 23andMe, the Mountain View, Calif.-based personal genetics company, for a gene that can cause a rare disorder called Bloom Syndrome, which causes short stature and a heightened risk of cancer. The test is most relevant for people who are expecting to have children. If both parents have the BLMAsh version of the gene, their child will have the disorder. Generally, the disease is so rare this is unlikely to happen, but in cases where both parents are of Ashkenazi Jewish descent, there is a 1 in 50,000 chance that a person will have the disorder. This is known as a carrier testing, because it shows whether or not parents carry a risky genetic variant.This is news not because a new carrier test is important, but because the FDA seems to be using this test as a way to start to think out its plans for regulating new types of genetic tests that are emerging from the revolution in DNA sequencing, the technology that can read out a person’s genetic material at a materials cost of less than $1,000. The news is a positive not only for 23andMe but also for Illumina, the largest maker of DNA sequencing gear, and smaller players like Thermo-Fisher, PacBio, and Oxford Nanopore. The FDA is not going back on its 2013 decision to stop allowing 23andMe to sell its personal genetics tests directly to consumers. Right now, this decision applies mainly to the Bloom test. Nor is it really surprising that the FDA is allowing 23andMe to sell its test directly to consumers. The FDA’s complaints had less to do with the direct-to-consumer nature of the tests than the fact that it had no opportunity to evaluate the risks and benefits to consumers. More excitingly, the FDA has told 23andMe that it intends to re-classify carrier screening tests so that bringing a new one to market doesn’t require going through the entire review process — or any review process at all. Instead, a company would have to notify the FDA and be sure that its diagnostic met certain requirements for analytic validity, notifying patients of risk, and helping patients find genetic counselors.
Here is more evidence that the FDA supports consumer-directed genetic testing (see: FDA Authorizes 23andMe To Market Genetic Testing For Bloom Syndrome)
“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,” says Alberto Gutierrez, Ph.D., director of the Office of In Vitro Diagnostics and Radiological Health in the FDA’s Center for Devices and Radiological Health.The approval is only for one type of screening kit but could open the door for approval of other types of genetic testing for the company. “It gives 23andMe a regulatory framework for future submissions,” CEO of 23andMe Anne Wojcicki wrote on a blog post.“While this authorization is for a single carrier status test only, we are committed to providing US customers with health information once more tests have been through this process and we have a more comprehensive product offering,” she said.
It will be interesting to learn more about what "circumstances" make it appropriate for healthcare consumers to obtain personal genetic information without "going through" a licensed practitioner. The argument for having a licensed practitioner receive and filter such information is that many consumers are not trained to perform this function. My own view is that those who seek to obtain genomic information are highly motivated and can easily access high quality information about genetic diseases on the web. On a more basic level, I also believe that informed and knowledgeable consumers/patients are preferable to uninformed ones.