Written by Courtney Asman, Indiana State University (Class 2019)
One of the first questions I typically get when I tell people I’m a student in genetic counseling is my opinion on direct to consumer sites like 23andme. My first thought is it’s harmless for people who know better than to use it in place of a medical genetics evaluation, but I know those people aren’t the only ones who seeking out these results. It’s definitely enticing. For a mere $200 dollars, you can learn about your ancestry as well as other health conditions that may put a person at risk. It seems like a small price to pay for the wealth of information you can receive, but the real concern is that it may be doing more harm than good for many people.
Now to 23andMe’s credit, they employ genetic counselors and with a few specific exceptions, do not provide results on medical conditions. They are clear in their disclaimers that the test does not evaluate for every clinically relevant condition and customers should speak with a genetic counselor about their results. Since patients are provided with their raw data, they can submit their DNA results to third parties that will provide more data that may appear to have clinical relevance. These third party sites will have their own disclaimer, but who reads those disclaimers anyway? The unfortunate answer is not many. The methods many of these direct to consumer companies use are not required to the same clinical standards of testing as CLIA certified clinical laboratories, and they don’t test in the same scope a medical provider might order. While that doesn’t mean the results aren’t accurate, they just aren’t testing in conditions with high enough standards to confidently use them to change medical management. While the website itself states that, there seems to be a gap in understanding of the general public. There is limited harm in using sites and services like these until a patient tries to use it in place of medical care. It can become even more problematic if a person doesn’t live anywhere near a genetic counselor to provide more information. With tool such as telemedicine and pushes to put more genetic counselors into the workforce, some of these aspects may be resolved in the future, but my fear is for the individual learning a concerning genetic result and not following up with a medical provider.
With the recent rollout of their FDA approval for 23andMe to start reporting on three genetic variants commonly found in the Ashkenazi Jewish population, many comments I saw on the announcement were by excited users who wanted to know their breast cancer risk. My concern is that people won’t read to the end of the article, won’t realize that not finding a variant does not mean they don’t carry one (since they are only testing for three out of many more common ones in the general population), and that they’ll use it to attempt to make decisions with their medical care going forward.
Hopefully medical practitioners will be able to recognize the need for clinical confirmation or further testing if patients come in with results one way or another, but my biggest concern is those people who see no variants might think they can stop following up with their healthcare providers with some cancer screening or that they don’t need that genetics appointment after all.
I think this new plethora of direct to consumer testing can be interesting for people wanting to learn about their ancestry or basic genetic information and create more widespread understanding of what genetics can mean, but it can create even more misconceptions that we have to dispel as genetic counselors and even create general feelings that they don’t need to come in for a genetics appointment if they can just get the information emailed to them for less money and trouble than a genetics appointment may cost them. I don’t think they are necessarily bad services, I’m just concerned about the people who put more stock in them than they should at this time.
“23andMe Granted First FDA Authorization for Direct-to-Consumer Genetic Test on Cancer Risk.” 23andMe Media Center. Accessed March 30, 2018. https://mediacenter.23andme.com/press-releases/23andme-granted-first-fda-authorization-direct-consumer-genetic-test-cancer-risk/.
Hawkins, Alice K., and Anita Ho. “Genetic Counseling and the Ethical Issues Around Direct to Consumer Genetic Testing.” SpringerLink. January 31, 2012. Accessed March 30, 2018. https://link.springer.com/article/10.1007/s10897-012-9488-8.