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It's not you, it's your genes

Times-Tribune - 8/9/2020

Aug. 9--Human DNA doesn't just decide eye color or cancer risk.

Our genetic fingerprints offer clues about mental health disease, too, according to new research published this month in JAMA Psychiatry .

The study, written by Geisinger researchers and genetic counselors with the health system's MyCode Community Health Initiative, strengthens the connection between mental health and the rest of the body.

Its authors say widespread screening for neuropsychiatric disease such as autism and epilepsy should be as important as genetic screening for diseases of the body like cancer and heart disease.

Patients who understand the biological underpinnings of their mental illness might be less inclined to think about it as a personal failure or character flaw, said Christa Martin, Ph.D., professor and director for Geisinger's Autism and Developmental Medicine Institute.

"I hope that this information can be a bit of a prompt for people to pay attention to their mental health symptoms and seek care," she said.

Martin was the lead author on the report along with Karen Wain, a genetic counselor, and 10 other contributing researchers, doctors and scientists.

"We're trying to make the brain part of health again," she said.

Mental and physical health have been historically and dramatically separate. Psychiatrists and psychologists operated out on the margins of medicine and for more than a century, two pillars of health care mostly ignored one another.

But more recently, clinicians of all stripes want to treat the whole body, including the mind, as mounting research proves the two are more connected than they thought, even 35 years ago.

That's about how long ago Dr. Matthew Berger, a psychiatrist in Moosic, started practicing.

"The stigma behind mental health was much more severe than it is today," he said. "There was always a sense, even by other physicians back then, that mental health was kind of voodoo and personality flaws. ... There were all the other medical fields, and then there was psychiatry."

Starting in 2014, MyCode researchers and their collaborators at Regeneron Pharmaceuticals have enrolled more than 250,000 patients in their genetic research project.

MyCode, headquartered in Geisinger's Forty Fort research hub, is the only U.S. genetic projects that consistently returns relevant results to patients.

Among other things, this latest research tests how adult patients react to news about genetic indicators for mental illness they might have never been treated for, diagnosed with or maybe never even had symptoms themselves.

Researchers tapped into their vast bank of genetic information to find changes in human genetic code called "copy number variants," then contacted the patients whose DNA showed any of 31 mutations linked to neuropsychiatric disorders.

Patients were overwhelmingly positive when hearing about their genetic variations tied to mental health disease, Wain said.

"This makes it come together for them," she said. "It often explains their family history, their personal history of growing up with learning problems."

Copy number variants aren't exactly brand new science.

Genetic researchers have known about the mutations as illness predictors for years. Put simply, a copy number variant is when a section of DNA is either duplicated or missing. Most variants are harmless, but some can predict a greater chance for illness later and are linked to neuropsychiatric disorders, including autism, bipolar and schizophrenia.

Geisinger's team wanted to know what benefit they could achieve using sweeping, population-based genetic screening.

Early detection helps better manage symptoms, limit costly interventions and lengthy or repeat hospital stays and improve quality of life -- that's true for both mental and other health care.

Patients shared relief that the thing they struggled with had a name and a medical diagnosis, according to the report. They were encouraged that they could now try to treat their illness and prepare their children who might inherit their copied or missing piece of DNA.

The COVID-19 pandemic, with its crushing isolation and other effects on people suffering with psychiatric disorders, magnifies the need for both patients and doctors to treat the mind and body as one.

"Even people who were coping well before are coping less well," Berger said. "We're seeing a surge in drug and alcohol problems, mental health problems, suicidality. It's really getting ugly out there."

Contact the writer: joconnell@timesshamrock.com; 570-348-9131; @jon_oc on Twitter

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