by Jake Meyer

Direct-to-consumer (DTC) genetic tests are genetic tests that are marketed directly to the public, instead of through a physician.  DNA is collected for DTC genetic tests through either saliva kits or cheek swab kits that can be used in the comfort of a person's home and then mailed to the company for analysis.  Customers of the DTC genetic testing company deCODEme use a "buccal DNA collector" to collect DNA for analysis, by gently scraping the inside of his or her cheek.  The DTC genetic testing company, 23andMe sells a kit that includes a saliva collection device, called a Spit Kit.  In fact, 23andMe made headlines by hosting a "spit party" in New York during the New York Fashion Week.  DTC genetic tests offer a wide variety of tests, providing people with information regarding their ancestry; their chances of developing a disease, condition, or trait; their nutritional profile; and their responses to particular drugs.  However, providing this type of genetic information does not come without risks, particularly when the genetic information is not put into context or interpreted by a physician.  There has been little regulation of DTC genetic testing, but now the Food and Drug Administration (FDA) is taking notice.

Concerns about DTC genetic testing were recently raised when Pathway Genetics announced that it was planning to sell saliva collection kits at Walgreens and CVS stores.  After the announcement, the FDA sent a warning letter to Pathway and the U.S. Congress began an investigation of the marketing practices of three DTC genetic testing companies (including 23andMe).  A mix-up at one of the DTC genetic testing companies brought further scrutiny.  On June 4th, 2010, 23andMe announced that up to 96 of its customers "may have received and viewed data that was not their own."  June 10, 2010, the FDA sent letters to five DTC genetic testing companies (23andMe, Navigenics, deCODEme, Illumina, and Knome) stating that the companies must either apply for approval or discuss why certain test claims don’t need the FDA’s approval.  The letters indicated that the FDA considers the DTC genetic testing offered by these companies to be a device "intended for use in the diagnosis of disease or other conditions" under 21 U.S.C. § 321(h) and therefore subject to regulation.

Traditionally DTC genetic tests have escaped regulation by the FDA.  DTC genetic testing companies like 23andMe argue that they are not providing medical diagnosis.  They argue that their services merely provide information.  In fact, 23andMe has a disclaimer on its website claiming that "not a test or kit designed to diagnose disease or medical conditions, and it is not intended to be medical advice." 

Some of these tests, however, can be used by consumers to make medical decisions.  The information from the tests could inform decisions to change dosing of particular drugs like blood thinners, warfarin, and Plavix.  Dr. Alberto Gutierrez, who leads diagnostic test regulation at the FDA, has said that "[i]t is not unknown for women to take out their ovaries if they are at high risk of ovarian cancer."  It is troubling that DTC genetic diagnostic testing can be used to identify genetic mutations that are associated with an increased risk to ovarian cancer – a serious disease that may lead women to undertake an invasive prophylactic surgery and have her ovaries removed.  A consumer receiving a test result that she has a mutation associated with ovarian cancer would likely cause severe anxiety over the test result and could have a tremendous emotional and psychological impact on the consumer.  But the tests haven’t been tested for accuracy or scientific legitimacy, and could give false positives, creating unnecessary anxiety and emotional and psychological harm.  And imagine the anxiety that was created when 23andMe’s 96 customers looked at the genetic testing reports of someone else, thinking that all of the genetic mutations of another person were their own.

The FDA is taking a good first step in requiring DTC genetic testing companies to submit their tests for approval (or argue why approval isn’t needed).  If DTC genetic testing companies wish to market their tests to provide medical information, then the DTC testing companies will have to submit to regulation by the FDA to ensure testing accuracy and to confirm the legitimacy of the science behind their claims.  As Dr. Guitierrez says, "[w]e just want to make sure the information [people] are given is correct."  The next step should be to require that a physician or genetic counselor interpret all diagnostic genetic tests that are making claims of medical diagnosis, including DTC genetic tests.  A consumer testing himself or herself at home may not understand what it means if a DTC genetic test indicates that the consumer carries a specific mutation and what the implications are.  To help understand the results of these tests, it would be in the consumers’ best interest if there was a physician or genetic counselor involved in the process that could explain the significance of the test results.