• Individualized care for psychiatric disorders — Mayo Clinic Biobank + genetic testing could pave the way

Joanna Biernacka, Ph.D.

Patients suffering from depression, anxiety and substance use disorders often search for years to find treatment. Studies have shown that during this time gap, patients’ symptoms worsen, increasing their risk for other chronic illnesses, shortened lifespan and poor quality of life.

Mayo Clinic statistical geneticist Joanna Biernacka, Ph.D. and her colleagues are working to change that equation, using electronic health records and genetic data from thousands of patients, including Mayo Clinic Biobank participants, to better understand the underlying causes of these disorders. Dr. Biernacka and her team hope to uncover genetic and clinical biomarkers that can help us predict who may be at risk for developing these disorders.

"There is a tremendous need for better prevention, faster diagnosis and more individualized treatments for patients who suffer from psychiatric disorders. It’s an exciting time to be searching for answers. We are making progress and now have new statistical and genetic models to help make discoveries that will advance care.”  

Joanna Biernacka, Ph.D.

“There is a tremendous need for better prevention, faster diagnosis and more individualized treatments for patients who suffer from psychiatric disorders. It’s an exciting time to be searching for answers. We are making progress and now have new statistical and genetic models to help make discoveries that will advance care,” says Dr. Biernacka.   

Developing a risk score to customize care

Working with colleagues in the Mayo Clinic Center for Individualized Medicine, Dr. Biernacka and her team will first be examining the electronic health records of 60,000 Mayo Clinic Biobank participants to identify clinical traits of these disorders.

“There is not just one type of depression – each form of the disease has different symptoms and levels of severity. The same is true for anxiety and substance use disorders. Because Mayo Clinic psychiatrists provide such in-depth clinical evaluations for patients with these disorders, we hope to identify key clinical traits for the many subtypes of disease,” she says.  

In the next stage of their research, investigators will analyze genetic test results for these same participants — an effort made possible through a research study known as Project Generation. The study is a collaboration between Mayo Clinic Center for Individualized Medicine and Regeneron Pharmaceuticals that will yield whole exome sequencing data on Mayo Clinic Biobank participants as well as additional Mayo Clinic participants.

“While diseases such as cancer, heart disease and diabetes are widely known to have genetic causes, we know that genetics also plays a key role in many psychiatric disorders. Having the genetic data for a large group of patients with these disorders will be a game changer. We’ll have a window into these diseases that we have been unable to open thus far,” says Dr. Biernacka.

"We hope the breadth and depth of information from analyzing larger patient populations will help us develop a polygenic (multiple gene) score that can be combined with social and environmental factors to predict who is at risk for developing these conditions. These scores could also speed diagnosis and identify the best treatments or treatment targets for individual patients.”

Dr. Biernacka

Researchers suspect there are hundreds or even thousands of genes that may be causing the different subtypes of these psychiatric disorders.

“We hope the breadth and depth of information from analyzing larger patient populations will help us develop a polygenic (multiple gene) score that can be combined with social and environmental factors to predict who is at risk for developing these conditions. These scores could also speed diagnosis and identify the best treatments or treatment targets for individual patients,” she says.

Dr. Biernacka and her Mayo colleagues, along with researchers from New York State Psychiatric Institute/Columbia University, Icahn School of Medicine at Mount Sinai, and Weill Cornell Medicine, were recently awarded a National Institutes of Health research grant on Polygenic Risk Score Modeling to Predict Psychiatric Disorders and Clinical Outcomes to support this research.

Finding answers, offering patients relief

For Dr. Biernacka, the potential to create this type of risk score is why she chose a career as a statistical geneticist.

“My role has combined my interests in biology and genetics, while allowing me to use my analytical skills to support medical research and ultimately improve care for patients,” she says.

Dr. Biernacka initially came to Mayo Clinic to support the Samuel C. Johnson Genomics of Addiction Program. She now serves as the director of Mayo Clinic's Psychiatric Genomics and Pharmacogenomics Program and is the co-principal investigator, along with Mark Frye, M.D., for the Mayo Clinic Bipolar Disorder Biobank.

"Our team is committed to advancing individualized care for patients with psychiatric disorders. By reducing the time it takes to diagnose and treat patients, we hope to offer them relief from their symptoms, improving their overall health and quality of life."

Dr. Biernacka

“Our team is committed to advancing individualized care for patients with psychiatric disorders. By reducing the time it takes to diagnose and treat patients, we hope to offer them relief from their symptoms, improving their overall health and quality of life.”

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