News Release

Adults with rare genetic causes of mental health disorders more likely to have chronic illness

Geisinger study finds higher rates of diabetes, dementia and emergency room visits compared to control group

Peer-Reviewed Publication

Geisinger Health System

DANVILLE, Pa. – Adults with specific genetic causes of mental health and other brain disorders had significantly higher rates of chronic disease and twice as many annual emergency room visits when compared to a control group without these genetic conditions, a Geisinger study found.

Rare genetic changes, known as pathogenic copy number variants (pCNVs), have large effects on brain function and are known underlying causes of autism spectrum disorder, intellectual disability, schizophrenia, epilepsy and other brain disorders. Researchers have found several dozen pCNVs associated with these conditions, but little research has been done on healthcare utilization in adults with these genetic changes.

The Geisinger research team compared a group of 928 adults who had one of these pCNVs to a control group from Geisinger’s MyCode Community Health Initiative who did not have a pCNV. The study found that adults with one of these genetic conditions were more likely than the control group to have a documented neurodevelopmental or psychiatric disorder, and had higher rates of diabetes, dementia and other chronic health conditions. Adults with a pCNV also recorded twice as many annual emergency room visits.

The results were published this month in Genetics in Medicine.

“These findings suggest that adults with pathogenic copy number variants have poorer health and require disproportionate healthcare resources,” said Brenda Finucane, M.S., professor at Geisinger’s Autism & Developmental Medicine Institute and lead author of the study. “Early genetic diagnosis paired with patient-centered interventions may help to anticipate these health conditions, improve outcomes and reduce the associated economic burden for these patients.”



About Geisinger
Geisinger is committed to making better health easier for the more than 1 million people it serves. Founded more than 100 years ago by Abigail Geisinger, the system now includes nine hospital campuses, a health plan with more than half a million members, a Research Institute and the Geisinger Commonwealth School of Medicine. With nearly 24,000 employees and more than 1,600 employed physicians, Geisinger boosts its hometown economies in Pennsylvania by billions of dollars annually. Learn more at, or connect with us on FacebookInstagramLinkedIn and Twitter.

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