Home genetic testing kits sound like a great idea — until they aren’t
How will you know what to do with the information you get -- and even if it's accurate?
Amazon Prime Day is one that bargain hunters eagerly await, and one of the event’s top sellers is the 23andMe health and ancestry genetic testing kits.
With more than 10 million customers, 23andme and its competitors have figured out how to bring to the masses information on susceptibility to everything from headaches and earwax to cancer. But getting help with interpreting those results is not so easy. With only 5,171 genetic counselors currently practicing worldwide, every genetic counselor would have to see 1,934 customers just from 23andMe.
While not everyone ordering a home testing kit will have an actionable finding, those who do often become quickly aware of the downsides of such testing.
While false positives are concerning, there is also the concern of a false negative, which falsely reassures consumers that they are at low risk for a potentially life-threatening genetic disorder that they were not fully tested for.
Earlier this year, 23andMe received FDA approval to test for hereditary colon cancer. Unfortunately, this test is very misleading as it is looking at one gene (called MUTYH) and tests only for the two most common MUTYH mutations in Europeans, ignoring other mutations more likely in non-Europeans.
Equally as alarming is that the most common cause of inherited colon cancer, Lynch syndrome, or any other hereditary colon cancer syndromes, is not being tested for at all. This again leads to false reassurance when the consumer may really be at high risk for colon cancer.
Health-care providers must find solutions to long wait times for genetic counseling, barriers to accessing in-person counseling, and the lack of education within rural and underserved populations. For example, it has been demonstrated that racial and ethnic/minority groups are less likely to see a genetic counselor for a variety of reasons including differences in physician referrals and racial differences in attitudes about genetic testing.
Like Amazon, we need to find a way to get genetic counseling into the home. The genetics community is adapting with the expansion of internet based group counseling and telegenetics services, which can help improve access for those who can’t or aren’t comfortable seeing a counselor in person.
Eliminating disparities in genetic counseling and testing will require the help of multi-lingual genetic counselors and culturally sensitive educational materials to spark interest. Increasing accessibility is the only way that consumers can get responsibly ordered genetic testing and pre-test education.
As a practicing cancer genetic counselor for 18 years, I reflect on all the complicated cases that took hours to work through and the countless patients who have been so grateful for help navigating the journey that is genetic testing. Recently, we have seen an uptick in patients coming to clarify their home-test-kit results, often sitting on pins and needles worrying about a result that turns out to be nothing of concern. So, should you add a genetic testing kit to your Amazon cart? Only if a genetic counselor comes in the box.
Dana Farengo Clark is a senior genetics counselor at the Basser Center for BRCA in the Abramson Cancer Center at the University of Pennsylvania