Direct to Consumer Genetic Testing

Direct To Consumer Genetic Testing: Patient Powered Healthcare or Dangerous?

Direct-to-consumer genetic testing (DTCs) are defined by the NIH as those aimed at consumers via television, print advertisements or the internet. They provide information on ancestry, reactions to medicine, potential increased risk of disease, and even whether or not you are more prone to going bald.

The biggest DTC genetic testing company is 23andMe. They were the first to market with their test. This test provided all of the information above and more. All that they required was a small amount of saliva in a test tube and a few weeks to process the results.

The previous test not only included your reaction to caffeine or prescription drugs, it also had information on disease risks such as breast cancer. Some of the information, such as your ancestry was fun. Other information was of serious concern.

That is where the FDA stepped in. The FDA decided that direct-to-consumer testing could present a problem for the general public. Their main concern was someone receiving positive tests for genetic markers, predisposing someone to a serious disease. Might someone with a positive test for breast cancer, immediately decide to have a mastectomy? Without proper counseling would someone with the Alzheimer’s gene become seriously depressed or even suicidal?

23andMe included information in each test stating that the results suggesting an increased risk of one disease or another were based on relatively small samples and needed to be evaluated in that context. Unfortunately that wasn’t enough for the FDA and in November 2013, the FDA sent 23andMe a letter calling for the immediate cessation of sales.

23andMe Resumed DTC Genetic Testing

After almost a 2 year hiatus, the company has announced that its trimmed down DNA-based health analysis meets FDA standards for being clinically and scientifically valid.

Unlike the previous testing, however, the new test will give much less health information, focusing more on ancestry, mutations that might pose disease risk to the individual’s children such as cystic fibrosis and sickle cell anemia.

Some may think that the FDA has saved vulnerable consumers. Others think that you shouldn’t need approval from a doctor to get your own genetic information. I believe that there is some merit to both arguments.

While I agree that everyone should have the right to their own genetic makeup, some information is best delivered by a licensed doctor. You don’t want to find out that you may be predisposed to breast cancer from a piece of paper.

In the end I believe I would rather know if there was an increased chance of any disease, no matter how I was informed. Either way, direct-to-consumer medicine is here to stay.