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JANUARY/FEBRUARY 2020. DISCOVER 61i
A middle-aged woman arrives for her annual checkup
toting her 50-page DNA profile, downloaded from the
web. The document warns that she has gene variants
that might increase her risks for Alzheimer’s disease
and breast cancer — a shock, she says, since no one
in her family has had either. You’re her doctor. You’ve got 12
minutes for this appointment. What should you do? Or, more
precisely, what are you legally obligated to do?
Though hypothetical, this scenario parallels very real
challenges to healthcare professionals as direct-to-consumer
(DTC) genetic testing becomes increasingly popular. Since
2007, when 23andMe began providing online DNA tests to
anyone with a credit card, at least 90 competitors have entered
the business; some 26 million people in the U.S. alone have
sent in saliva samples.
DTC companies don’t conduct clinical testing, so their labs
don’t have to meet the same strict federal standards as medical
facilities. The companies typically post disclaimers stating that
their products are not for medical use. Yet more and more
patients are asking physicians for advice based on DTC test
results, leading doctors into largely uncharted territory.
“There are false negatives, which could be catastrophic if you
actually have something that you ought to act on,” says Ellen
Wright Clayton, a professor of law and pediatrics at Vanderbilt
University. “There are also false positives, which could drive
people to interventions that are not only costly but potentially
harmful.”
Even if a test is accurate, the likelihood of developing a
condition based on a single gene variant can be unclear. Many
conditions, from certain cancers to mental health disorders,
are the result of complex interactions between an individual’s
DNA, lifestyle and environment. Meanwhile, DTC tests may
overlook some genetic red flags, for instance, checking for
the most common variants of the BRCA1 and BRCA2 genes
associated with increased risk of breast and ovarian cancer, but
ignoring hundreds of others.
And the liability issues surrounding such tests are muddier
still.
In April, a team led by Clayton and University of Minnesota
researchers completed a groundbreaking attempt to develop
a roadmap for navigating this and other new genomic terrain.The three-year project, known as LawSeq, analyzed current
U.S. federal and state law around genetic data; the goal was to
provide guidance on what the law should be, and how to address
legal concerns in clinical practice.
Even ahead of LawSeq’s paper on DTC testing liability, which
is expected in the coming months, concern about legal land-
mines in the general field of genomics is growing. For example,
also in April, the American Society of Human Genetics (ASHG)
published guidelines on researchers’ responsibility to inform
study participants when results of their DNA tests show previ-
ously unsuspected dangers.
Geneticists often use anonymized data — collected from
medical labs or from DTC company databases and stripped of
identifying information — to investigate inherited conditions. If a
mutation once thought to be benign is found, years later, to create
a serious disease risk, are researchers obligated to track down the
DNA donors who carry it? The ASHG suggests they should try.
But no guidelines currently exist for doctors who are face-to-
face with patients clutching printouts of their DTC test results.
Which brings us back to our theoretical physician. Refusing
to look at the woman’s DNA profile could leave the doctor liable
if she later develops cancer, notes Arizona State University law
professor Gary Marchant, a LawSeq team member. The ideal
solution is to have her results validated in a clinical lab — but
insurance companies typically won’t pay for that, and many
patients can’t afford it. If the physician encourages the woman
to have a preventive mastectomy based on an iffy DTC test,
however, the patient could sue for malpractice if the test results
were later shown to be wrong and the procedure unnecessary.
“These tests put doctors in a damned-if-you-do, damned-if-
you-don’t situation,” Marchant says.
The tests could raise perplexing questions for juries as well. So
far, case law on DTC testing is virtually nonexistent; Marchant
says not a single lawsuit has made it through the courts. (If any
have been filed, they’ve likely been settled before trial, their
details guarded by nondisclosure agreements.) Litigation based
on medical DNA testing has been increasing, however, with
more than 200 cases since the 1970s. Suits related to online
services are sure to follow. “If someone starts to win some cases,”
Marchant predicts, “you’ll see a swarm of lawyers jumping on
the bandwagon.”Navigating the Murky
Waters of DNA Testing
BY KENNETH MILLERESSAY