Abstract
Nearly 1% of the population carry certain pathogenic variants that put them at high risk of cancer or cardiovascular disease (CVD), according to researchers at Massachusetts General Hospital (MGH). The study also showed that individuals at markedly increased risk could not be reliably identified based solely on family history. Instead, genetic testing was needed to identify them. The MGH group's paper was recently published in JAMA Network Open.
“What was really striking was that simply taking a family history—as I currently do in my clinical practice—would have failed to identify most of the high-risk individuals,” said senior author Amit V. Khera, M.D., a medical director of the MGH Preventive Genomics Clinic.
The researchers studied data from 49,738 middle-aged adults in the UK Biobank. The scientists determined that 441 (0.9%) of the participants carried a pathogenic variant, including 0.3% for familial hypercholesterolemia, 0.5% for hereditary breast and ovarian cancer, and 0.2% for Lynch syndrome.
For all three conditions, risk of associated diseases was substantially higher: 21% of familial hypercholesterolemia variant carriers vs. 9% of noncarriers, 28% of hereditary breast and ovarian variant carriers of variants vs. 8% of noncarriers, and 22% of Lynch syndrome variant carriers vs. 2% of noncarriers.
PM Images / Getty Images
