Key Takeaways
- eMERGE, a National Institutes of Health-funded study of nearly 20,000 adults, demonstrates the power of genomics to uncover health risks in those with no personal history via population-wide genetic screening
- One in 40 adults learned they carry a genetic variant linked to cancer or heart disease, most for the first time
- Identifying people at high risk enables earlier screening and prevention strategies
- Findings presented this week at the National Society of Genetic Counselors (NSGC) 44th Annual Conference
SEATTLE – Nov. 7, 2025 – A national genetic screening study of nearly 20,000 adults determined one in 40 carried a genetic variant that significantly increases their risk of certain cancers or heart disease – and two-thirds learned about their genetic risk for the first time, according to the research presented at the National Society of Genetic Counselors (NSGC) 44th Annual Conference. The findings highlight how offering genetic testing to the general population can help identify people who may benefit from earlier screening and prevention strategies.
Researchers assessed data from the Electronic Medical Records and Genomics (eMERGE) national research consortium that securely links study participants’ genetic data with electronic health records to advance precision medicine, improve disease prevention and guide safer, more effective treatments. eMERGE is a diverse general population-wide study that includes people with no known genetic risk.
“Genetic testing is typically only offered to people who have strong personal or family risk factors, but this finding shows that despite the lack of those risk factors, many people are at risk for these health conditions; they just don’t know it,” said Jessica Denton, MS, PhD, CGC, lead author of the study and assistant professor at the University of Alabama at Birmingham. “That’s important information because there are things that can be done to help them reduce their likelihood of developing cancer or cardiometabolic conditions, once they know they are at risk.”
In the study, 19,604 people were tested for 16 genes associated with hereditary cancer, including breast, colon and prostate, and cardiometabolic diseases, including high cholesterol and heart disease. Overall, 484 (2.5%) tested positive for one of those pathogenic or likely pathogenic gene variants – genetic changes known to increase the risk of disease. While 164 (33.9%) had received a similar result through previous genetic testing, 320 people (66.1%) learned for the first time they had one of these genetic variants.
Of the 491 variants identified (some people had more than one), 302 were in hereditary cancer genes, 52.6% of which were BRCA1 or BRCA2 and 29.5% were in Lynch syndrome genes such as PMS2, which raises the risk of colorectal and endometrial cancer. Of the 189 variants identified in cardiometabolic disease genes, 62.4% were in LDLR, which causes very high cholesterol, even in those who are otherwise healthy.
Various guidelines, including those from the National Comprehensive Cancer Network and the American Heart Association, recommend that people with some pathogenic variants take actions to lower their risk of developing cancer or a cardiometabolic condition. For example, if a person is found to have a colon cancer risk variant, they should have a colonoscopy earlier and more often than recommended for the general population. A person with high cholesterol might start a high-dose statin and adjust their diet.
“Population-wide genetic testing would be beneficial if we can develop the infrastructure and resources to do it,” said Dr. Denton. “Genetic counselors play a valuable role in so many aspects of population-based genetic screening, including explaining the results and guiding patients and their doctors to appropriate prevention resources.”
The eMERGE Network is a National Human Genome Research Institute-organized and funded consortium of U.S. medical research institutions. The Network brings together researchers with a wide range of expertise in genomics, statistics, ethics, informatics, and clinical medicine from leading U.S. medical research institutions to conduct research in genomics using electronic medical records, including discovery and clinical implementation.
News releases may contain updated data or language that does not match what is reported in the abstract.
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Media interested in viewing study abstracts, interviewing authors and/or attending sessions at the NSGC Annual Conference can contact NSGC’s PR team at 630-344-2009 or NSGCPR@pcipr.com.
About the National Society of Genetic Counselors
NSGC is the leading voice, authority and advocate for the genetic counseling profession. Membership represents more than 5,000 masters-level health professionals, who are committed to ensuring that the public has access to genetic counseling and genetic testing. For more information, visit www.nsgc.org.
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