Any person curious about their personal genetic predisposition to 10 relatively well-known diseases can now do it in the comfort of their own home, sans physician referrals. This is thanks to the FDA’s newest ruling, which will allow 23andme to sell these genetic risk tests straight to consumers.
“Consumers can now have direct access to certain genetic risk information,” said Jeffrey Shuren, the director of the FDA’s Center for Devices and Radiological Health. “But it is important that people understand that genetic risk is just one piece of the bigger puzzle, it does not mean they will or won’t ultimately develop a disease.”
This is an important distinction. The tests aren’t meant to dole out any diagnosis. Rather, these are intended to assess a person’s genetic risks of developing such disease, given their genetic profile. And to Dr. Shuren’s last point, high risks don’t necessarily mean the disease will definitely manifest, as lifestyle and other environmental factors also influence the outcome.
According to the FDA’s announcement, the 10 tests approved for direct-to-consumer (DTC) use include:
Parkinson’s disease: a nervous system disorder impacting movement;
Late-onset Alzheimer’s disease: a progressive brain disorder that destroys memory and thinking skills;
Celiac disease: a disorder resulting in the inability to digest gluten;
Alpha-1 antitrypsin deficiency: a disorder that raises the risk of lung and liver disease;
Early-onset primary dystonia: a movement disorder involving involuntary muscle contractions and other uncontrolled movements;
Factor XI deficiency: a blood clotting disorder;
Gaucher disease type 1: an organ and tissue disorder;
Glucose-6-Phosphate Dehydrogenase deficiency (G6PD): a red blood cell condition;
Hereditary hemochromatosis: an iron overload disorder; and
Hereditary thrombophilia: a blood clot disorder.
These 10 genetic health risk (GHR) test were approved based on extensive data “from peer-reviewed, scientific literature that demonstrated a link between specific genetic variants and each of the 10 health conditions,” per the FDA. The company 23andme also had to demonstrate that sufficient genetic information concerning these 10 GHR tests could be gleaned from just a saliva sample.
"This is an important moment for people who want to know their genetic health risks and be more proactive about their health," said Anne Wojcicki, the CEO and co-founder of 23andMe, in a press release.
But consumers should beware. Getting the GHR test results is only one part of the puzzle; accurately deciphering these results is arguable much trickier. According to the FDA release, results of these DTC tests should “be communicated in a way that consumers can understand and use.” Even so, because the origins of these diseases are complex, involving the interplay between genes and environmental factors, it probably would be wise to seek help from trained genetic counselors in interpreting these results.
Of note, curious consumers would also do well to consider that some diseases on this list, such as Parkinson’s and Alzheimer’s disease, don’t yet have cures. While this information may benefit people who have a family history, it may also bring undue stress for others and their families. So while knowledge is power, taking genetic tests should not be taken lightly.
