I was originally going to type a post about genetics within the special education field. Then I ran across this article, Couple sues over failed Down Syndrome diagnosis and was going to write about wrongful birth lawsuits.
However, there has been so much in the news today about DTC gene tests which I couldn’t ignore. DTC companies have the potential to make a positive impact on the public by improving accessibility to genetic services. Unfortunately, those services are currently being questioned.
Today, the Subcommittee on Oversight and Investigations held a hearing, “Direct-To-Consumer Genetic Testing and the Consequences to the Public Health).” For more opening statements and testimonies go here.
What caught my attention was the federal ‘sting’ where undercover investigators either ordered kits or called companies with questions. Check out the brief video below with snippets of recorded phone conversations between DTC companies and undercover investigators.
The FDA also sent out letters to 14 companies regarding genetic tests they provide. Click here for a list of those companies and letters.
The U.S. GAO (Government Accountability Office) has released a summary and full report “Direct-To-Consumer Genetic Tests: Misleading Test Results Are Further Complicated by Deceptive Marketing and Other Questionable Practices.” Go here to read this report.
Thoughts?
The DNA Exchange 
From my perspective as a believer in the promise of DTC testing for improving accessibility and as a hopeful entrepreneur, yesterday was a very sad day. The investigation conducted by GAO is unquestionably troubling. Horrifying, really. So, what are we to do? Abandon DTC altogether? I argue that this would be a mistake. Instead, the recent events underscore the critical need for genetic counselors to taKe lead roles in this new area, so that we can ensure that ethical, high quality, useful services are available to as many people as possible. I continue to believe that there are valid uses for DTC tests that are scientifically valid, such as carrier screening. I believe that outlawing or over-regulating the industry entirely out of business would be overkill. Some regulation is clearly needed, though.
The bottom line is that we need these DTC tests to be regulated and overseen by people trained in genetics, whether it be genetic counselors or geneticists. I saw the YouTube video and was horrified!!! There is no regulation for these tests and that will bring bigger issues to the genetics community…the general community will look at these tests and relate them to us (genetic counselors) and if they are disgusted by DTC they will be disgusted by us. Terrible!
I would like to comment on one aspect of the report that I found troubling.
A quote from the report: “GAO’s donors also received DNA-based disease predictions that conflicted with their actual medical conditions–one donor who had a pacemaker implanted 13 years ago to treat an irregular heartbeat was told that he was at decreased risk for developing such a condition.”
I think this quote shows that education is certainly required, both for the patients who use DTC testing and the government who is attempting to regulate such an industry. Just because an individual is said to have a decreased risk for developing a condition doesn’t mean they won’t ever develop the condition. It’s comparable to a genetic counselor using a Gail model on a patient and finding that she has a lower lifetime risk of breast cancer than the general population, that doesn’t mean she won’t develop the condition.
I agree that these companies shouldn’t make false promises as far as whether these results will have any medical impact. What the GAO needs to understand the difference between a SNP based (or other type of DNA based) test and a diagnostic test. Based on a limited sample size, the DTC reports that I have read don’t state that a person does/doesn’t have a condition, it simply states that the risk for such a condition is increased or decreased.
From the horrific errors displayed in the video to the general misconceptions in the report, the need for education and genetic counseling is more evident than ever.