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Tomorrow’s Cure: Predicting disease risk with polygenic risk scores
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Imagine knowing your risk for disease long before symptoms appear. With early detection and targeted interventions, this knowledge could transform how complex healthcare challenges are addressed. Researchers are now leveraging genetic data to enhance disease risk prediction through an innovative tool known as a polygenic risk score. Learn more on a new episode of Tomorrow's Cure.
The podcast's latest episode features Victor Ortega, M.D., Ph.D., associate director of the Mayo Clinic Center for Individualized Medicine, and Louise Wain, Ph.D., professor of respiratory research, University of Leicester in the U.K.
Scientists have developed polygenic risk scores to analyze multiple genetic variants across a person's genome. These scores assess the likelihood of developing conditions such as heart and lung diseases, diabetes, asthma, and certain cancers.
"There's really no one singular variant in the genome that causes common diseases. It's really a lot of different variants across the genome, across our genomes that have weaker or milder effects on disease risk, but all together give us this increased risk," explains Dr. Ortega.
"With those discoveries, we've developed genetic risk scores, polygenic risk scores, where we bring together the effects or associations across variants, across entire genomes into a singular score," he continues.
Clinicians can then utilize these risk scores to potentially customize prevention and treatment strategies.
"These are quite early in development, but are potentially really, really important," says Dr. Wain. "In the future, we could use these to improve diagnosis where somebody is already presenting with the disease, but they need a specific diagnosis in order to access the medicines that are going to work for them." Dr. Ortega says the potential of polygenic risk scores is both exciting and promising. Find out more on the latest episode of Tomorrow's Cure. To view the complete list of episodes and featured experts, visit tomorrowscure.com.
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