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SearchResults highlight the importance of routine cancer screenings, suggest genetic testing should go beyond high-risk groups
New Cleveland Clinic research reveals that up to 5% of Americans – approximately 17 million people – carry genetic mutations or “variants” linked to increased cancer susceptibility, regardless of risk factors like personal or family cancer history.
Published in JAMA, the study suggests that these mutations may be more common than previously thought and highlights the potential for expanded genetic screening to identify more individuals at risk and improve early detection.
The research team, led by Joshua Arbesman, M.D., and Ying Ni, Ph.D., analyzed health records and genetic sequencing data from over 400,000 participants in the National Institute of Health’s All of Us Research Program, the country’s largest and most comprehensive genetic and healthcare database.
“Genetic testing has traditionally been reserved for individuals with strong family histories or other high-risk indicators,” said Dr. Arbesman, a practicing dermatologist and researcher. “Our findings show that many people with pathogenic variants fall outside those criteria, suggesting we may be missing opportunities for early detection and prevention. This research also highlights the importance of regular cancer screenings for all Americans – not just those with a family history or other risk factors.”
The team focused on over 70 common cancer-related genes and identified more than 3,400 unique mutations. This builds on prior research by Drs. Arbesman and Ni, which revealed that genetic predisposition to melanoma was 7.5 times higher than national guidelines estimated, underscoring that genetic risk can be underrecognized in routine clinical settings.
As genetic testing becomes more accessible, Drs. Arbesman and Ni say they hope that their findings will support broader adoption of testing and routine cancer screenings such as mammography and colonoscopy.
“Knowing the prevalence of gene variants in the general population will give us a clearer picture without any pre-assumptions based on lifestyle or family history,” said Dr. Ni.
Dr. Arbesman added that “early detection remains the best defense against cancer. Our findings show how widespread cancer risk variants are, underscoring the importance of regular screenings. Long term, we hope to build a truly comprehensive list of genes that guide cancer screening and prevention, so we can find people who would benefit from proactive care.”
Cleveland Clinic is a nonprofit multispecialty academic medical center that integrates clinical and hospital care with research and education. Located in Cleveland, Ohio, it was founded in 1921 by four renowned physicians with a vision of providing outstanding patient care based upon the principles of cooperation, compassion and innovation. Cleveland Clinic has pioneered many medical breakthroughs, including coronary artery bypass surgery and the first face transplant in the United States. Cleveland Clinic is consistently recognized in the U.S. and throughout the world for its expertise and care. Among Cleveland Clinic’s 82,600 employees worldwide are more than 5,786 salaried physicians and researchers, and 20,700 registered nurses and advanced practice providers, representing 140 medical specialties and subspecialties. Cleveland Clinic is a 6,728-bed health system that includes a 173-acre main campus near downtown Cleveland, 23 hospitals, 280 outpatient facilities, including locations in northeast Ohio; Florida; Las Vegas, Nevada; Toronto, Canada; Abu Dhabi, UAE; and London, England. In 2024, there were 15.7 million outpatient encounters, 333,000 hospital admissions and observations, and 320,000 surgeries and procedures throughout Cleveland Clinic’s health system. Patients came for treatment from every state and 112 countries. Visit us at clevelandclinic.org. Follow us at x.com/CleClinicNews. News and resources are available at newsroom.clevelandclinic.org.
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