Your health risks are often dependent upon your genetics. Assessing a single DNA difference that has a small effect on risk may not be clinically useful. However, when hundreds or thousands of these small risks are added up into a single score, often called a polygenic risk score (PRS), they might offer clinically meaningful information about a person’s disease risk.

Researchers from Brigham and Women’s Hospital, Veterans Affairs (VA) Boston Healthcare System, and Harvard Medical School have developed and validated polygenic risk scores for six common diseases that are commonly screened for and initially managed in primary care. These diseases are coronary artery disease, type 2 diabetes mellitus, atrial fibrillation, colorectal cancer, and either prostate cancer in male patients or breast cancer in female patients. The scores were developed as part of the Genomic Medicine at VA (GenoVA) Study, a randomized clinical trial of PRS testing among generally healthy adults

“As a primary care physician, myself, I knew that busy physicians were not going to have time to take an entire course on polygenic risk scores,” said corresponding author Jason Vassy, MD, MPH, of the Brigham’s Division of General Internal Medicine & Primary Care, the Brigham’s Precision Population Health at Ariadne Labs and VA Boston. “Instead, we wanted to design a lab report and informational resources that succinctly told the doctor and patient what they need to know to make a decision about using a polygenic risk score result in their health care.”

The GenoVA Study is currently enrolling patients at the VA Boston Healthcare System, and the investigators reported the results from the first 227 patients, among whom 11 percent were found to have a high polygenic risk score for atrial fibrillation, 7 percent for coronary artery disease, 8 percent for type 2 diabetes, and 6 percent for colorectal cancer. Among men, 15 percent had a high score for prostate cancer, while 13 percent of women had a high score for breast cancer. The GenoVA Study will ultimately enroll more than 1,000 patients and follow them for two years to observe how they and their primary care providers use the polygenic risk scores in clinical care. For example, high-risk patients might choose to undergo screening tests more frequently or take preventive medications that can lower their risk. 

 The full data may be read here.




Photo Courtesy: National Human Genome Research Institute