can to help our patients,” Moreno De Luca says. His
genetics work is a key project within the Autism Initiative
of the Hassenfeld Child Health Innovation Institute, a
collaboration between the Warren Alpert Medical School
and the Brown University School of Public Health. He says
that while genetic testing has limitations, its potential to
reveal something that could improve a patient’s care is real.
“We’re just not doing what we could be doing right now,”
he says.
And patients want that information. Moreno De Luca
says that, in general, only 3 percent of people with autism
spectrum disorders have had the recommended genetic
testing, yet the vast majority said they would have done it if
offered. This is even with the knowledge that, in many
cases, the tests will not reveal a genetic abnormality linked
to autism. Besides helping more patients now, widespread
testing would give researchers more data to develop and
improve diagnosis and treatments for patients in the future,
especially for people from diverse ethnic backgrounds, who
have been classically underrepresented in genetic studies.
“It’s frustrating to not have answers,” says Molly
Goldman, MS, a genetic counselor at Bradley who works
closely with the Genetic Psychiatry Consultation Service
and is crunching the numbers for a survey assessing
Rhode Island autism patient and family opinions about
genetic testing.
Goldman adds that even if a patient’s test doesn’t find
a genetic abnormality that explains the autism, “I think
that overall people are happy about pursuing their genetic
testing.”
Besides helping more patients
now, widespread testing
would give researchers more
data to develop and improve
diagnosis and treatments
for patients in the future.
HEALTH DISCOVERIES l WINTER 2020 21