The FDA’s 23andMe decision will also change the rules for all at-home medical genetic testing

23andme CEO Anne Wojcicki
23andme CEO Anne Wojcicki
Image: AP Photo/Jeff Chiu
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Doctors are losing their role as the gatekeeper of our health information, for better or worse.

Last week, the US Food and Drug Administration made a surprise announcement giving genetic testing company 23andMe clearance to sell a service that gives customers a risk analysis for 10 genetically linked diseases. It reverses a 2013 decision that cited concerns that inaccurate testing results—and potential customer misinterpretation—made for a public health threat, and builds on a 2015 agreement between the FDA and 23andMe that allowed the company to offer a test that told customers of their ”carrier status” of genetic markers for certain diseases—but not assess their actual risk. This latest decision means 23andMe will again be able to provide specific risk analyses to customers, and perhaps more importantly, throws the door wide open to dozens of other companies to run out their own versions of at-home genetic risk-analysis products.

The disease risk that 23andMe offers isn’t a diagnosis; it just gives you your potential for elevated risk. For example, if a person inherited a copy of the ApoE4 gene variant from both of their parents, their lifetime risk of Alzheimer’s would raise to 87%, up from the 9% risk of the general population, according to STAT News. Only 1-2% of the population carries two copies of the variant.

The FDA has, so far, given 23andMe approval to test for and send out risk for the following genetic diseases:

The disease risk numbers for these ailments are thought to be reliable because they’ve have been exhaustively research by the medical community. “This a conservative set [of diseases], there’s a very, very low risk in terms of getting it wrong,” says Brendan Frey, CEO of Deep Genomics, a startup applying artificial intelligence to genomic data. “The newly approved tests are for well-understood mutations that are associated with substantial increases in disease risk.”

Some argue that without a doctor presenting this information in context, patients are getting a false sense of their propensity for disease.

“Other genetic and environmental factors, lifestyle choices, and family medical history also affect a person’s risk of developing many disorders,” the National Institute of Health’s website reads. “These factors are discussed during a consultation with a doctor or genetic counselor, but in many cases are not addressed by at-home genetic tests.”

In addition, the FDA decision loosens regulation across the board. The FDA has established new guidelines for approving at-home genetic testing, so once any company (23andMe included) gets one test approved through the typical premarket approval pipeline which rigorously ensures the testing procedure is safe and necessary, they only have to prove the test meets certain levels of accuracy, reliability, and relevance. In other words, rather than having to prove the safety and validity of its entire testing process of analyzing a vial of spit every single time, companies only have to prove the method is accurate for each new disease.

There are already a number of potential 23andMe competitors waiting in the wings, including Pathway Genomics, Counsyl, and Color. At-home genomic testing, along with the ability to consistently monitor heart rate and sleep quality with wearables, puts more and more information in a patient’s hands. Next-generation wearable technology promises even more information, like monitoring sweat to gauge fatigue, Lyme disease, and potentially Type 2 diabetes.

As patients get more information, the important question to ask is: Will they know what to do with it?