Certain genetic changes, termed "pathogenic variants," substantially increase risk for cardiovascular disease and cancer—the leading causes of death—but testing to identify individual carriers is not part of current clinical practice.
Certain genetic changes, termed "pathogenic variants," substantially increase risk for cardiovascular disease and cancer—the leading causes of death—but testing to identify individual carriers is not part of current clinical practice.
Now a team led by investigators at Massachusetts General Hospital (MGH) determined that nearly 1% of the population carry such pathogenic variants. These individuals were at markedly increased risk and could not be reliably identified based on family history.
As reported in JAMA Network Open, the researchers studied 49,738 middle-aged adults in the UK Biobank, which recruited individuals across the United Kingdom. The study focused on three genetic conditions wherein, according to the U.S. Centers for Disease Control and Prevention, identifying individuals carrying pathogenic variants can be particularly useful: familial hypercholesterolemia, which predisposes to cardiovascular disease; hereditary breast and ovarian cancer; and Lynch syndrome, which predisposes to colorectal and uterine cancers.
Working with geneticists at Partners HealthCare Personalized Medicine, the scientists determined that 441 (0.9%) of the UK Biobank 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.
Read more at Massachusetts General Hospital
Photo Credit: klimkin via Pixabay
