Genetic testing is supposed to be the standard of care for people with autism and developmental disabilities. Nevertheless, genetic testing happens in only a small number of cases. Dr. Daniel Moreno De Luca, a psychiatrist with the Verrecchia Clinic for Children with Autism and Developmental Disabilities at Bradley Hospital, wants to change that.
“We think these tests should be offered to 100 percent of these patients,” Dr. Moreno De Luca said.
Dr. Moreno De Luca is a member of the Hassenfeld Institute’s Autism Initiative, whose researchers aim to improve the lives of children who have autism and their families. There, he works closely with Dr. Eric Morrow and Dr. Stephen Sheinkopf, who lead the Autism Initiative. They focus on a precision medicine approach, which seeks to identify targeted treatments for people with autism spectrum disorders (ASD), whose underlying causes can vary.
Two years ago, Dr. Moreno De Luca established the Genetic Psychiatry Consultation Service at Bradley Hospital, a service that provides both medical and psychiatric treatment recommendations for children and adults who have already had genetic testing that revealed an abnormal result. Using the genetic information that’s available, the team at Bradley Hospital does a full psychiatric evaluation and provides clinical recommendations based on the results.
Although it is possible to order genetic testing at Bradley Hospital, Dr. Moreno De Luca and his colleagues, in close collaboration with Hasbro Children's Hospital and Rhode Island Hospital, are preparing to launch a genetic counseling service on site for people with ASD, which would essentially bring together under one roof the psychiatric and genetic components of clinical services for people with ASD. This would allow any physician to send their patient to Bradley Hospital for a complete evaluation plus genetic testing, thereby streamlining the process. Bradley Hospital would then return the test results to the ordering physician.
Dr. Moreno De Luca’s hope is that by providing patients with information and advice both before and after the testing, physicians will feel more comfortable ordering the tests. He also hopes to increase literacy about genetics in the field of psychiatry.
“Many doctors ask, ‘How is [genetic testing] going to change what I do for my patients?’ Well, there are many things that may be markedly different,” he said.
Many of the patients that Dr. Moreno De Luca sees are young children, some of whom get biopsies and invasive testing to determine the cause of their symptoms. Identifying a clinically significant genetic change can help explain the symptoms and eliminate the need for these additional unpleasant and invasive tests.
While some physicians worry that abnormal genetic results would sadden families, Dr. Moreno De Luca said many of the families he sees are actually relieved when the test results finally provide them with a framework to guide their child’s care, something that has also been reported in studies.
“It’s like a key that opens a secret door to many opportunities” he said.
Dr. Moreno De Luca's ultimate goal is to translate research about the impact of genetic testing to the clinical setting.
“We’re trying to provide a road map of what physicians should know about genetic testing. There’s so much going on in genetics, and I’m excited to bring together research and clinical care,” he said.