For Immediate Release: Tuesday, October 20, 2026, 5:00 p.m. U.S. Eastern Time
Media Contact: Evelyn Mantegani, +1 240-833-2014, [email protected]
Presented By: Catherine Hajek, MD, Helix
Rockville, Md. – Familial hypercholesterolemia, hereditary breast and ovarian cancer, and Lynch syndrome affect an estimated 1% to 2% of the population. Although proven interventions can reduce associated health risks, most people carrying a disease-causing genetic variant do not know it. A large observational study involving 14 U.S. health systems shows that population genetic screening is associated with sustained changes in screening and preventive care among participants with pathogenic/likely pathogenic variants in CDCT1 genes.
Researchers at Helix analyzed more than 525,000 adults enrolled in the Helix Research Network between 2018 and 2026. Participants received sequencing that identified pathogenic or likely pathogenic variants in nine genes associated with the three conditions.
The study identified approximately 9,200 carriers, or 1.75% of participants. Carriers who had not previously received recommended screening began doing so at substantially higher rates than non-carriers. Lynch syndrome carriers were more than eight times as likely to initiate first time colonoscopy, while carriers associated with familial hypercholesterolemia or hereditary breast and ovarian cancer also increased cholesterol testing and mammography. These changes in treatment began within six months of return of result.
Preventive interventions increased substantially for these participants as well, including risk-reducing surgeries and cholesterol-lowering treatment. Screening also uncovered actionable findings more frequently among carriers, including elevated cholesterol, breast cancer, and colorectal cancer.
As one of the largest reported multisite population genomic screening programs in the country, the study provides real-world evidence that genetic screening effectively identifies carriers of disease risk which translates into condition-specific clinical action across different health systems.
About the American Society of Human Genetics (ASHG)
The American Society of Human Genetics (ASHG) is the leading global organization advancing the science of human genetics and genomics. Representing nearly 8,000 researchers, clinicians, genetic counselors, educators, and other professionals, ASHG drives progress in understanding the human genome and its role in health and disease. The Society fosters innovation and collaboration through its flagship events and publications—including the ASHG Annual Meeting and its peer-reviewed journals The American Journal of Human Genetics and Human Genetics and Genomics Advances. ASHG also champions science advocacy, supports the next generation of genetics professionals, and promotes responsible policies and public engagement in genetics. Learn more at www.ashg.org.
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