Health Discoveries Winter 2020 | Page 22

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.” ●