Newly developed genetic risk score could help patients, doctors make health decisions

A person's risk of developing diseases such as type 2 diabetes or breast cancer can be influenced by thousands of genetic differences

"As a primary care physician, I know that busy physicians don't have time to put the entire curriculum on polygenic risk scores," said corresponding author Jason Vassy, ​​MD, MPH, Brigham's General Internal Medicine and Primary Care, Brig.

Vassi and his colleagues developed the risk score as part of the VA (GenoVA) Genomic Medicine Study, a randomized clinical trial of the PRS test in generally healthy adults

The Genoa study is currently enrolling patients in the Boston healthcare system, and researchers report results from a first of 227 patients, 11% of whom were found to have a higher polygenic risk score for atrial fibrillation, 7% for coronary artery disease, and 8 % have type 2 diabetes, and 6% have colorectal cancer

There are many challenges that researchers must address when implementing PRS testing in clinical laboratories

"Researchers must continue their efforts to increase the diversity of patients participating in genomic studies," said LMM Principal Laboratory Director Matthew Lebo,

To date, 52% of GenoVA study registrants reported being non-white and/or Hispanic/Latino

Another key challenge in introducing polygenic risk scores into clinical medicine is that physicians and patients will need support to understand them and use them to make medical decisions

The team of scientists hope this first report from the GenoVA study will provide useful guidance for other laboratories and health care systems looking to implement polygenic risk score testing in patient care