Both positive and negative test results can help
advance the science. As technology progresses and
researchers gather more data from more patients,
they may find new links between clinical symptoms
and genetic changes, expanding our understanding
of autism and improving patient care.
MISSING LINK
So if most patients say they want genetic
testing, why aren’t they getting it? “That’s what we
want to know,” Goldman says. “The connection
between the patients and the physicians is
probably the biggest gap right now.”
“We know that one of the factors that affects
physicians,” Moreno De Luca says, “is how
comfortable they feel with their genetics knowl-
edge. The field is moving so quickly that some-
times it’s difficult to keep up with what’s going on.”
Unfortunately even when some patients request
genetic testing, he adds, “their physician may have
the misperception that the results may not be
clinically useful.”
The Genetic Psychiatry Consultation Service aims to
close those gaps, so that physicians view it as a partner in
guiding patient care. In addition, Moreno De Luca and his
team have completed a quality improvement project to
ensure doctors at Bradley who want to order genetic testing
can do so swiftly. “We’ve got your back,” Moreno De Luca
says. “We won’t let things fall through the cracks.” The
team gets insurance preauthorization (“We haven’t had a
single denial,” he says, though copays vary and are a worry
for some people) so physicians can order the relevant tests;
fragile X and chromosomal microarray (which looks for
missing or extra pieces of DNA) are recommended for all
patients with autism.
When the results come back, the consultation service
coordinates with the referring doctors to recommend
treatments or further screening, Moreno De Luca says,
while simultaneously showing them how genetic informa-
tion can make a difference in their practice: “It’s a stealth
education tool.”
He has more overt education tools, too: he has taught
genetics to students and medical trainees at Brown, and
he’s helped create exercises that have been completed by
hundreds of psychiatrists and trainees across the country,
“to maximize the knowledge that our already small
workforce has,” he says.
22 HEALTH DISCOVERIES l WINTER 2020
Just putting a name
to her son’s condition,
finding out there are
other people who
have it too, has made
things a little better.
“We already know that there aren’t enough psychiatrists
in general for the population of the US,” Moreno De Luca
says. “There’s a severe shortage of child and adolescent
psychiatrists. And then there’s an even more severe
shortage of people doing genetic testing.” As more doctors
and medical students learn about the utility of genetic
testing, they can bring that knowledge with them wherever
they practice.
Genetic testing “is not going to be a cure for every-
thing,” Moreno De Luca cautions; it’s important to be
aware of its limitations. But “we’re just not doing what we
could be doing right now.”
It’s impossible to know how an earlier genetic diagnosis
might have changed Matt’s life. Bianca Rossi describes her
son as developmentally delayed, but high functioning—he
graduated from high school and gets vocational training
through the state. He’s witty, compassionate, and
sensitive, his mom says, yet “he is a complete puzzle, still.”
When they found out he has duplication 15q syndrome,
“I jumped into being proactive and [asking], what services
can I get?” Bianca says. “What can we do to make it better?”
Just putting a name to her son’s condition, finding out
there are other people—not that many, but some—who
have it too, has made things a little better.
“This journey has been really isolating,” Bianca says. But
now they know: “There are all these other kids and families
out there.” ●