Harvard Medical School researchers develop genetic risk scores for six common diseases | News

A team of researchers from Harvard Medical School and its affiliated hospitals has developed genetic risk scores — which have the potential to aid screening and prevention in high-risk patients — for six common diseases and applied them clinically.

The study – published in Nature Medicine, a leading peer-reviewed publication, on April 18 – was co-led by Harvard Medical School professors Jason L. Vassy and Matthew S. Lebo, and included researchers from affiliates of HMS Brigham and Women’s Hospital and Veterans Affairs of the Boston Health System.

The researchers analyzed the genomes of thousands of patients and developed polygenic risk scores, which use thousands of individual genes to predict a patient’s likelihood of developing a given disease.

The methodology has many applications in disease detection and prevention, including common diseases such as atrial fibrillation, coronary heart disease, type 2 diabetes, breast cancer, prostate cancer, and colorectal cancer. – at the center of the team’s study.

Vassy said polygenic risk scores could allow doctors to target patients most at risk for prevention and screening.

“I would say that in the next 10 years at least some polygenic risk scores of some shape and form will be in regular use,” he said.

Peter Kraft, professor of epidemiology at the Harvard School of Public Health and co-author, said the technique had already been demonstrated in a research setting but was difficult to apply clinically.

“There’s no guarantee that what we’ve seen in our research studies will work in a pre-living human population,” he said.

Kraft said the team had been successful in proving the validity of their methods in a clinical setting, but still faced the challenge of helping physicians understand and implement polygenic risk scores in care. to patients.

“Primary care doctors in particular are overwhelmed these days — despite Covid — so they’re not going to take a new course in genetics or a new program on polygenic risk scores,” Vassy said. “We wanted to be able to deliver the intervention in this research study in a very, very time-conscious way.”

Vassy said the use of polygenic risk scores in clinics also raises ethical concerns.

“The body of cohort studies around the world is mostly made up of individuals of European ancestry, so these polygenic risk scores were developed in those individuals,” Vassy said. “When you consider moving them into cohort studies of individuals of more diverse ancestry, they don’t work as well.”

Anna CF Lewis, a research associate at Harvard’s Safra Center for Ethics and co-author of the study, said that while the variance in the effectiveness of polygenic risk scores is an “ethical issue,” the methodology still needs to be tested.

“The right thing to do is to test them and measure how many of these concerns are actually realized,” she said.

Kraft said enrolling more genetically diverse cohorts is the next step.

“The more diverse population we have to study, the better, because ultimately we would like to apply these scores and make sure they work for everyone equally,” he said.

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