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Current screening protocols miss a notable number of people carrying genetic mutations associated with hereditary breast and ovarian cancer syndrome and Lynch syndrome, which increase the risk of developing certain cancers. This issue is particularly pronounced among underrepresented minorities.
These research findings, published in JCO Precision Oncology, are based on genetic screenings of more than 44,000 study participants from diverse backgrounds.
For this Mayo Clinic Center for Individualized Medicine Tapestry project, researchers identified 550 people, or 1.24%, as carriers of hereditary mutations.
"Early detection of genetic markers for these conditions can lead to proactive screenings and targeted therapies, potentially saving lives of people and their family members," says lead author Niloy Jewel Samadder, M.D., a Mayo Clinic gastroenterologist and cancer geneticist at the Center for Individualized Medicine and the Mayo Clinic Comprehensive Cancer Center. For instance, BRCA2 mutations increase the risk of developing breast cancer to 50% and ovarian cancer to 20%, with additional risks for prostate and pancreatic cancers in males.
The study also showed disparities in how underrepresented minority participants met genetic screening guidelines compared to other groups.
"These results suggest the existing guidelines for genetic testing inadvertently introduce biases that affect who qualifies for testing and who receives coverage through health insurance. This leads to disparities in cancer prevention," Dr. Samadder says. "Our results emphasize the importance of expanding genetic screening to identify people at risk for these cancer predisposition syndromes."
To learn more about the study, please visit Mayo Clinic News Network
Excerpted from Mayo Clinic News Network
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