En español | Imagine a day when you might take a cheek swab, mail it off as you would to a company similar to one like 23andME.com, and receive back your odds of developing a common type of heart disease — as well as type 2 diabetes, inflammatory bowel disease, breast cancer or an irregular heartbeat.
That day could arrive in about five years, estimate researchers from the Broad Institute, Massachusetts General Hospital and Harvard Medical School, who published a paper on their new genetic scoring system in the journal Nature Genetics this week.
Their method, they explain, breaks from the hunt for a single gene mutation that ups your risk of a specific disease — say, the BRCA gene that contributes to a small number of breast cancer cases. Instead, they search for tiny mutations within the genetic code — but millions and millions of them — which, analyzed on the whole, give insight into the chances of developing certain diseases.
The potential for heart disease prevention in particular is huge, cardiologists said in reacting to the news. Using the new method, for instance, researchers estimate that up to 25 million Americans who don't have warning signs like high cholesterol could be walking around with three times the average person's risk of heart disease.
"What I foresee is in five years, each person will know this risk number, this 'polygenic risk score,' similar to the way each person knows his or her cholesterol," Sekar Kathiresan, M.D., director of the Center for Genomic Medicine at Massachusetts General Hospital, who led the research team, told the New York Times.
In releasing their paper, the Boston-based team stressed that an increased likelihood of a particular disease their method could uncover does not equal a diagnosis. Nor does it give anyone a “free pass” to ignore advice on diet and exercise that could also help lower disease risk. But the information could, in theory, lead a doctor to prescribe a statin for someone who’s 40 with no other known risk factors for heart disease, potentially helping the patient to avoid a deadly heart attack.