CHICAGO — In this video exclusive, Sekar Kathiresan, MD, discusses the large, national Precision Medicine Initiative and new data presented at the American College of Cardiology Scientific Session that he said provides an example of precision medicine in action with regard to CVD.
Precision medicine is defined by the NIH as “an emerging approach for disease treatment and prevention that takes into account individual variability in genes, environment and lifestyle for each person.”
The Precision Medicine Initiative was announced in January 2015. Enrollment is expected to begin this year, with a goal of 1 million U.S. participants by 2019. Kathiresan served on a panel to design the blueprint for this study. Volunteers will answer questions about their baseline health, provide blood samples, consent to follow-up and allow their clinical health information from the electronic health record to be linked to other data. Among the diseases to be included in the effort are CVD, diabetes and obesity.
“This is really the Framingham Heart Study for this century, and we’re all very hopeful that this will lead to new insights into the fundamental causes of disease and people’s responses to specific treatments,” said Kathiresan, director of preventive cardiology at Massachusetts General Hospital.
He also discussed results of a late-breaking clinical trial presented here showing that only a small fraction of people with severe hypercholesterolemia can attribute their condition to a genetic mutation related to familial hypercholesterolemia, but individuals with these mutations face a high risk for developing early onset CAD.
“Knowing whether a patient with high LDL has this specific mutation is going to be important in the future,” he said.