Genome Predictors of Heart Attack Risk
In This Video
- Sekar Kathiresan, MD, is the director of Mass General's Center for Genomic Medicine
- Here, he discusses his team’s work in determining a polygenic risk score for heart attack, opening up the possibility of identifying high-risk individuals for heart attack based on their genome and offering preventive interventions
Sekar Kathiresan, MD, is the director of Mass General's Center for Genomic Medicine. In this video, he discusses his team’s work in determining a polygenic risk score for heart attack, opening up the possibility of identifying high-risk individuals for heart attack based on their genome and offering preventive interventions.
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Transcript
One of the areas that we worked on is the idea of predicting somebody's risk for heart attack based on their genome. If you take 100 individuals who have a heart attack at a young age, about two of them, it’s due to a mutation in a gene that elevates LDL cholesterol. So, we wondered what's happening with the other 98? Why are they having a heart attack at a young age? And we've actually figured out that is the additive effect of many, many gene variants together called a polygenic score. And people who are on the high end of that score are at markedly increased risk of a heart attack, similar to similar levels as the individuals who carry a monogenic mutation in LDL elevating genes.
So, this opens up the possibility of identifying high-risk individuals for heart attack based on their geno and offering preventive interventions. In about five years, I think that everybody will want to know their polygenic score for heart attack as much as they know their LDL cholesterol level. So, I work on trying to understand the genetic basis of heart attack and most of genetics over the years has been trying to find people who are at increased risk based on their genetics. But the flipside of that is that some people are actually naturally protected from having heart disease based on their genome so-called resistance notations.
So, the idea is these individuals are naturally born with a mutation that might protect them against disease. Can we use that insight, that knowledge, to transfer that benefit from that one person to the rest of the population by developing a medicine that actually mimics the mutation.
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