APTE: Exploratory medical tests might not be ready for consumers
Opinions Column: Under the Microscope
Do you ever wonder how someone could ever actually enjoy the taste of brussels sprouts? Do you ask yourself why you have an unibrow when others don’t? Most of our traits — which we might think of as being randomly distributed — are defined by our specific genetic makeup. So wouldn’t it be fun to know why you’re made the way you are, what makes you ... you?
This is precisely what a company called 23andMe promises it will deliver — sort of. All you have to do is spit in a vial and mail it in along with a check for $199, and you’re on your way to find out which darned gene makes your hair misbehave just the way it does. If it sounds like fun and games — even if the company’s name is a spunky spin on an individual’s 23 pairs of chromosomes — it at least started out that way, until things started to get more serious.
Sure it’s nice to know about freckles and your taste perceptions, but stuff starts to get a little murky when you go around saying you can inform people about whether or not they have the gene for sickle cell anemia and cystic fibrosis. That’s when the Food and Drug Administration starts asking questions. Which is precisely what happened to 23andMe, because the FDA considered the kit, called a "Personal Genome Service," as a “medical device” that needed to be regulated. Things got heated when 23andMe skipped government protocol and went directly to consumers, launching an ad campaign encouraging them to see that the tool-kit can generates “information that they can use to prevent or manage their risks for certain condition.”
“If there’s an overall message, it’s that personal genetics will become an integral part of the future of health care, and 23andMe wants to empower people by putting access to their own genetic information into their own hands,” according to the company in a blog post.
The murkiness here is that the markers are presented as risk probabilities (below average, etc.) that the FDA argued that the average Jane or John Doe has insufficient tools to evaluate. In 2013, The FDA ordered a halt to this kind of genetic testing, claiming that “Some of the uses for which PGS is intended are particularly concerning, such as assessments for BRCA-related genetic risk and drug responses (e.g., warfarin sensitivity, clopidogrel response, and 5-fluorouracil toxicity) because of the potential health consequences that could result from false positive or false negative assessments for high-risk indications such as these.” To put it simply, Suzie Q’s interpretation of “below average risk” might be different than Jane Doe’s. What if Suzie Q were told she had a slight chance of developing breast cancer in her lifetime and decided to seek drastic and unnecessary interventions?
As Dr. Atul Gawande, a staff writer for The New Yorker and famed surgeon at Brigham and Women's Hospital in Boston, wrote in an article, “Overkill,” or unnecessary medical care, is harming patients both financially and physically. Likening exploratory medical tests to fishing expeditions, he says, “Since no one is perfectly normal, you tend to find a lot of fish.”
So if you’re anxious enough about life, imagine adding another layer of anxiety about health concerns.
What about the ethics behind such tests? While companies claim that results won’t be shared, there has been hand-wringing about the possibility of such sensitive data being used to crowdsource studies in genetics. Sure there might be many positive outcomes from such use, but patient privacy is sacred and consent might be a slippery slope here.
Then again there’s the issue of your genetic data being used to deny you services or sold to marketing companies that target tailored services based on your information. What’s more, some worry that even if you don’t sign up for the service, even having an aunt, sister or brother send in that sample is enough to garner specific information about you. In the era of big data, can companies really be trusted to handle such a gold mine wisely? The verdict is uneven.
The FDA approved the kit late in 2015, and now 23andMe is back in business, offering an impressive suite of genetic markers it can find. So if you’re really digging existential questions — Who am I? What am I made of? — you might be toying with the idea of $199 to learn more. But I for one, am not ready to bite that bullet just yet.
Vandana Apte is a School of Environmental and Biological Sciences junior majoring in biotechnology with a minor in women's and gender studies. Her column, “Under the Microscope,” runs monthly on Fridays.
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