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A groundbreaking study by Mayo Clinic has identified critical gaps in current genetic screening protocols for hereditary cancer risks, particularly among underrepresented minority groups. These research findings, published in JCO Precision Oncology, are based on genetic screenings of more than 44,000 study participants from diverse backgrounds.
The study sequenced the exomes—the protein-coding regions of genes where most disease-causing mutations occur—and identified 550 individuals (1.24%) carrying mutations linked to hereditary breast and ovarian cancer syndrome (HBOC) and Lynch syndrome. Alarmingly, half of these individuals were unaware of their genetic risks, and 40% did not meet existing clinical guidelines for genetic testing.
"This study is a wake-up call, showing us that current national guidelines for genetic screenings are missing too many people at high risk of cancer," 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. “Early detection of genetic markers can lead to proactive screenings and targeted therapies, potentially saving lives of individuals and their families.”
Hereditary Cancer Risks: BRCA and Lynch Syndrome
HBOC, linked to mutations in the BRCA1 and BRCA2 genes, poses significant cancer risks:
- BRCA1 mutations can lead to a 60% lifetime risk for developing breast cancer and a 40% risk of having ovarian cancer
- BRCA2 mutations elevate risks for breast cancer (50%) and ovarian cancer (20%), as well as prostate and pancreatic cancers in males.
Lynch syndrome carries even higher risks:
- Colorectal cancer (80%)
- Uterine/endometrial cancer (50%)
Addressing Disparities in Genetic Screening
The study also revealed disparities in how underrepresented minority participants met genetic testing guidelines compared to other groups. These inequities suggest biases in current guidelines and insurance coverage, exacerbating barriers to cancer prevention.
"Our results emphasize the importance of expanding genetic screening to address these biases and identify people at risk for cancer predisposition syndromes,” says Dr. Samadder.
The Tapestry Project: Advancing Precision Medicine
The Tapestry project, which has now sequenced the exomes of over 100,000 patients, is integrating genetic data into electronic health records to personalize care. This initiative supports Mayo Clinic’s mission to advance precision medicine and create targeted healthcare strategies for all.
A version of this article was originally published on the Mayo Clinic News Network
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