By Jason Rothstein, MPH
The appeal of direct-to-consumer (DTC) genetic testing is undeniable, but comes with some caveats that may not apply to most of the other products and services sold under this model.
DTC is everywhere these days, and it’s not hard to see why. DTC companies promise higher-than-average quality for lower-than-average prices on a wide range of products like razor blades, pants, and shoes.
These models also extend to bigger ticket items like mattresses, and more personalized goods like eyeglasses. I’ve been extremely nearsighted since I was in elementary school, and now also need bifocals to read comfortably. Because I’m so dependent on my eyeglasses, I’m really picky about quality and willing to spend more money.
And yet, I’m typing this while gazing at the screen from behind my specs from a prominent DTC eyeglasses company whose name rhymes with Shmarby Shmarker. These companies and their pitches are highly appealing: better quality, more convenience, lower cost, and satisfaction guaranteed. What could go wrong?
Actually, a lot.
It’s easy to understand why someone might seek out DTC options for more complicated services as well. Today, if you’re interested in getting a genetic test for cancer risk, you can make an appointment with your doctor, then speak with a genetic counselor or specialist, then opt in to testing that may or may not be covered by insurance, and then go through another round of appointments to discuss your results. DTC tests offer much greater simplicity, but that simplicity comes at a significant sacrifice.
Recently, Heather Murphy wrote in the New York Times about a little-known aspect of the BRCA-related cancer risk testing offered by DTC genetics company, 23&Me. Their test only looks at three common BRCA mutations, but numerous other BRCA mutations also increase an individuals risk for breast, ovarian, and other cancers. Among women with any cancer-causing BRCA mutation, 23&Me’s test would miss nearly 90% of them from its positive results.
A negative result from this test might look reassuring, but in fact tells recipients very little about their potential for increased cancer risk. Worse, it might lead an individual to be less diligent with their own self-screening and with bringing concerns to their doctors.
23&Me doesn’t hide the limitations of its testing, and they aren’t trying to mislead. But you have to dive pretty deeply into their fine print – and have a somewhat sophisticated knowledge of genetic tests – to understand what this test does and does not tell you.
At the Sarnoff Center, we believe that genetic tests for cancer risk and reproductive risk should be paired with expert assistance, either through a qualified genetic counselor, or through a physician with specialist knowledge to explain and interpret genetic tests and results.
DTC models are great when you have the knowledge to evaluate what you’re getting. Is this razor blade as good as the one you buy at the drug store? Is this mattress as comfortable as the one you slept on before? Do these eyeglasses correct your vision comfortably and accurately? You can answer all those questions for yourself.
But when you’re seeking genetic information to help you understand your health risks, ask yourself honestly: Do I understand this test and its limitations? Will I understand the results? Would I benefit from expert assistance?
At the Sarnoff Center, our genetic counselor can help explain the differences among different kinds of genetic testing, and can help you identify resources to get the assistance you need. For all such inquiries, contact Melissa Ramos. We also recommend you take a moment to review our Board’s statement about DTC cancer testing.
(And for any opticians wishing to send hate mail, you can reach out to me directly.)