Adults with rare genetic changes have poorer health, says study

According to a Geisinger study, grown-ups with certain genetic causes of mental health and other brain disorders had substantially increased rates of chronic disease and twice as much annual emergency room visits compared to a control group devoid of these genetic conditions.

Mental Health

Image Credit: Dragana Gordic/

Rare genetic changes—called pathogenic copy number variants (pCNVs)—have huge impacts on brain function and are familiar causes of intellectual disability, autism spectrum disorder, epilepsy, schizophrenia, and other brain disorders. Scientists have identified several dozen pCNVs linked with these conditions, however, only some studies were carried out on healthcare utilization in adults with these genetic changes.

The Geisinger scientist compared a group of 928 adults who possessed one of these pCNVs to a control group from Geisinger’s MyCode Community Health Initiative who did not possess a pCNV.

The research identified that adults having one of these genetic conditions had a high possibility when compared to the control group to have a recorded neurodevelopmental or psychiatric disorder. They were also more likely to have dementia, diabetes, and other chronic health conditions. Adults having a pCNV also documented twice as many annual emergency room visits.

The findings were published in the Genetics in Medicine journal.

These findings suggest that adults with pathogenic copy number variants have poorer health and require disproportionate healthcare resources. 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.”

Brenda Finucane MS, Study Lead Author and Professor, Autism & Developmental Medicine Institute, Geisinger Health System

Journal reference:

Finucane, B., et al. (2021) Medical manifestations and health care utilization among adult MyCode participants with neurodevelopmental psychiatric copy number variants. Genetics in Medicine.


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