After being diagnosed with a hereditary cancer syndrome in graduate school, Madison
Kilbride, assistant professor in philosophy at the University of Utah, became fascinated
about the ethical issues surrounding genetic testing and specifically the sorts of
tests that are available through a direct-to-consumer, DTC, model. In 2021, she received
a prestigious four-year NIH K01 Career Development Award to evaluate the risks and
benefits of DTC offerings for serious health conditions using an innovative approach
that can be adapted to study a wide range of current and future tests and companies.
Direct-to-consumer testing continues to gain interest from the public due to its availability,
ease of testing and potentially life-saving genetic information. However, there hasn’t
been much research by academics on DTC tests that have implications for serious disease
risks. The reason being, according to Kilbride, many DTC companies prefer to do research
in-house rather than partner with academic researchers.
For her research, Kilbride will forgo a partnership with a DTC company and evaluate
the outcomes of 100 people who take an at-home genetic test that sequences 60 cancer
and cardiac disease susceptibility genes. Participants will be administered four detailed
surveys throughout the process – before the test, right after the test, two to three
weeks after the results are provided and again six months later.
“We’re asking participants a lot of questions about their psychological and emotional
responses to testing and getting their results and we’re especially interested in
what they do with these results,” said Kilbride. “Do they change reproductive plans
to avoid passing on a mutation, do they change their insurance policies, do they pursue
any risk reduction strategies such as surgeries, screenings, medications or implement
lifestyle changes to their diet and exercise habits?”
Kilbride’s personal experience with genetic testing was very different than using
a DTC test. The lengthy process included an hour-long meeting with a genetic counselor
before she even took the test and an hour-long follow-up meeting after she received
“The clinical model is very different than a DTC test that anyone can take at any
time. However, genetic counseling is still available through several of these companies
and some companies really do make an effort to help people understand their positive
Through her research, Kilbride will explore whether there are harms connected to DTC
testing, which could potentially include the possibility of people not acting on the
information appropriately, misinterpreting results and having a negative psychological
and emotional reaction.
At the conclusion of her four-year study, Kilbride will publish scholarship that engages
an interdisciplinary audience of academics, policy makers and the general public.
She hopes to inform public discourse about genetic testing and make evidence-based
policy recommendations that promote the safe and ethical use of DTC genetic tests.
Jana Cunningham, University of Utah College of Humanities
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