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30 Aug 2018

Scientists have created a powerful new tool to calculate a person’s inherited risks for heart disease, breast cancer, and three other serious conditions.

Reporting on research in the journal, Nature Genetics, the New York Times revealed that, by surveying changes in DNA at 6.6 million places in the human genome, investigators at the Broad Institute and Harvard University were able to identify many more people at risk than do the usual genetic tests, which take into account very few genes.

Of 100 heart attack patients, for example, the standard methods will identify two who have a single genetic mutation that place them at increased risk. But the new tool will find 20 of them.

The researchers are now building a website that will allow anyone to upload genetic data from a company like 23andMe or Users will receive risk scores for heart disease, breast cancer, Type 2 diabetes, chronic inflammatory bowel disease, and atrial fibrillation.

People will not be charged for their scores.

A risk score, including obtaining the genetic data, should cost less than $100, said Dr Daniel Rader, a professor of molecular medicine at the University of Pennsylvania.

Dr. Rader, who was not involved with the study, said the university will soon be offering such a test to patients to assess their risk for heart disease. For now, the university will not charge for it.

Dr Sekar Kathiresan, senior author of the new paper and director of the Center for Genomic Medicine at Massachusetts General Hospital, said his team had validated the heart risk calculation in multiple populations.

But DNA is not destiny, Dr Kathiresan stressed. A healthy lifestyle and cholesterol-lowering medications can substantially reduce risk of heart attack, even in those who have inherited a genetic predisposition.

The new tool also can find people at the low end of the risk range for the five diseases. This should prove useful to certain patients: for example, a woman who is trying to decide when she should start having regular mammograms, or a 40-year-old man with a slightly high cholesterol level who wants to know if he should take a statin.


Published: 30 Aug 2018