Direct-to-consumer (DTC) genetic testing seems to be the hot topic these days. This type of testing can (at present) be ordered online from the comfort of your home, and provides information about various genetic disorders, traits, ancestry, and possible disease risks based on analysis of your DNA. The more well known the DTC companies have become, the more public concerns have arisen. While these concerns have been alive and well in the genetics community for some time, they’ve now gone mainstream, causing the FDA to stand up and take notice. Last month Walgreens decided to hold off on carrying “at-home” genetics kits after the FDA got wind and questioned the legality of these kits. Congress and the FDA are now investigating several such DTC companies, including Pathway Genomics, Navigenics, and 23andMe. There is debate about whether the testing kits need to be government-regulated. It’s somewhat an issue of semantics: if the testing is medically diagnostic, it needs to be regulated. If it is for “informational” purposes only, as most of the companies claim, then it would not technically need to be regulated. Regardless, it’s reassuring that the FDA is looking into it.

Also in the wake of the current debate, Counsyl (see previous post and discussion), a similar company, decided to halt its DTC testing, and now offers its kits only through physicians’ offices. I was told that this change was made based on “community feedback.” Whether the “community” refers to their customers, genetics professionals, or the FDA, it’s hopefully a change for the better. Another recent change, 23andMe enlisted the services of an independent genetic counseling company to provide easy access to counseling for their clients. Our message seems to have gotten through that this information requires explanation.

23andMe made the news feeds again yesterday as it became public that a lab error (at an outside lab who performs their testing) resulted in a number of customers receiving the wrong test results. The company seems to have handled the mix-up well and notified all affected customers right away. The error has led 23andMe to look further into their testing process to reduce the chance of error.

Much of the information that such testing can provide may prove to be useful, but there is much that is still unknown. DTC testing took off at warp speed, and I’m happy to see that things are slowing down a bit, for the moment. For any genetic test, we need to ensure the accuracy and efficacy, the benefits and risks must be clearly presented, and access to a genetics professional should be readily available. This is even more important when consumers are ordering the testing themselves without the guidance of a medical professional (see Center statement on DTC genetic testing). This is an exciting time in genetics, and while personal genomics may be straight ahead, we still need to look both ways before moving forward.