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In any given year, approximately 1 in 5 adults in the U.S. experiences mental health issues, including developmental brain disorders such as bipolar disorder, anxiety, and schizophrenia. An almost equal number were born with learning, behavioral, and neurological conditions, such as autism and epilepsy, that affect their day-to-day functioning.

While a person’s life experiences may influence whether he or she has a “developmental brain disorder,” we are now able to detect specific genetic changes that are the primary causes of these conditions in some people.

One group of genetic changes, called copy number variants (CNVs), involve deletions (missing pieces) and duplications (extra pieces) of genetic material. Although each specific CNV is relatively rare, together they are found in almost 1 out of every 100 MyCode participants.

As part of an NIH-supported R01 grant led by Principal Investigators, Dr. David Ledbetter (EVP and CSO) and Dr. Christa Martin (ADMI Director and Professor), researchers at Geisinger’s Autism & Developmental Medicine Institute (ADMI) in Lewisburg have undertaken a unique project to return these important results to adults enrolled in MyCode.

Brenda Finucane, Associate Director and professor at ADMI, is leading the effort, along with genetic counselors, Karen Wain and Emily Palen. The experience so far has been overwhelmingly positive, with 40 individuals already contacted to discuss their results. In some cases, information about the underlying cause of a person’s psychiatric condition has led to changes in managing the disorder. For others, identifying a CNV led to family testing that shed light on the reason for a grandchild’s developmental problems. Even when there are no immediate medical or hereditary concerns, finding out that a person’s brain disorder is due to a known genetic change can be a profoundly important revelation.

“There are a lot of misconceptions and stigma related to brain disorders in our society,” says Finucane. “People with psychiatric and developmental conditions often feel embarrassed or ashamed, as if others blame them or see their illnesses as some kind of character flaw. Learning that a mental illness is directly related to a genetic difference - one that was present from birth and directly impacts brain function - can go a long way toward medicalizing and demystifying these common disorders.”  

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