The New York Times
May30, 2023 – by Hannah Price for The New York Times
Polygenic risk scores could help patients, including younger ones, understand whether they really need early treatment for heart disease.
Katie Elkins sits on a dark chair in front of a bookcase. She has short dark hair, hoop earrings and a tattoo on her left arm.
Katie Elkins’s doctor recommended she get a new kind of genetic test to better assess her risk of a heart attack.
Gina Kolata has been reporting on heart disease prevention for decades and visited patients and doctors at the University of Pennsylvania lipid clinic to report this article.
Katie Elkins has a family history of heart disease on both sides of the family, and she was worried. Her father had a heart attack this year on Easter morning at the age of 53 — the same age his mother was when she had one. Ms. Elkins’s primary care doctor ordered a blood test, which revealed that her LDL cholesterol level was 160. That is high for someone at her age of 34. The doctor referred her to Dr. Daniel Rader, at the University of Pennsylvania, who specializes in preventive cardiology.
The question for Dr. Rader was: Should Ms. Elkins start taking a cholesterol-lowering statin? The guidelines say she is too young — the treatment is typically reserved for people at least age 40. But high cholesterol levels damage blood vessels slowly, over a period of decades. Was her risk high enough to intervene early? To find out, Dr. Rader suggested Ms. Elkins take a new genetic test, known as a polygenic risk score. It looks at a collection of thousands of genetic variants. Each variant contributes little on its own to heart disease risk, but the variants together might point to those who are likely to have heart attacks.
Cardiologists hope to use such tests, which cost about $150 and are not typically covered by health insurance, to identify people most likely to have heart attacks long before they have them. Some doctors envision testing children as part of routine pediatric care.
There’s a real unmet need to identify high-risk people very early in life,” said Dr. Nicholas Marston, a cardiologist at Brigham and Women’s Hospital in Boston. He has studied polygenic risk scores and has also been involved in trials for pharmaceutical companies that make cholesterol medicines. “We know the solution to preventing heart disease is getting your bad cholesterol as low as possible for as long as possible.
Those at high risk would be treated aggressively. But the test may also spare some patients, including possibly Ms. Elkins, from unnecessary treatment if their risk turns out to be low.
Dr. Rader said Ms. Elkins’s LDL level could put her at risk for a heart attack — but probably not for at least a couple of decades. But a heart attack at any age is life-altering and can have severe effects, even with advances in medicine. So the question of how to protect young people whose risk may manifest years later is pressing.
Dr. Rader, who has no financial interests in polygenic risk tests, is on the scientific advisory boards of Alnylam and Novartis, which have commercial interests in inclisiran, an LDL-lowering drug.
Some critics say that a focus on treating younger people is misplaced because they may not comply with taking a statin or another drug for the rest of their lives. It can be difficult for young people to focus on possible threats to their health decades in the future, and some of Dr. Rader’s patients have put off even getting polygenic risk tests after he recommends them.
The real need, these critics say, is with the huge group of older people who need cholesterol-lowering treatment but are not getting it, or who are abandoning their prescriptions. In one study, about 40 percent of people 65 and older who had a heart attack and need lipid-lowering medications for the rest of their lives.