Apr 19, 2022 - Health

Scoring the risk for common diseases

Illustration of a caduceus with uneven wings.
Illustration: Sarah Grillo/Axios

Researchers developed a genetic-risk "score" for six common diseases such as Type 2 diabetes and breast cancer which they say could help doctors and their patients make better health decisions, according to a study published in Nature Medicine.

Why it matters: In the effort to deliver precision medicine, studies have identified thousands of genomic variants linked with a range of common complex human diseases. But individual genetic changes, on their own, don't always provide much information.

  • When hundreds or thousands of small risks are added up, it could provide more clinically meaningful information for a patient, researchers say.

But, but, but: Compiling all of those risks can be unwieldy.

  • Researchers from Brigham and Women's Hospital, Veterans Affairs Boston Healthcare System, and Harvard Medical School say they developed and validated what are called polygenic risk scores for atrial fibrillation, coronary artery disease, Type 2 diabetes, breast cancer, colorectal cancer, and prostate cancer.
  • They also created resources about how doctors can integrate them into clinical care.
  • "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," corresponding author Jason Vassy of the Brigham's Division of General Internal Medicine & Primary Care said in a statement.

What's next: They plan to enroll more than 1,000 patients in their study to observe how they and their primary care providers use the risk scores.

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