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
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
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.)