In a surprising revelation, recent research indicates that men are significantly less likely to undergo genetic testing for hereditary cancer syndromes compared to women, despite being more likely to test positive for high-risk cancer variants. This finding, published in the journal Frontiers in Oncology, highlights a potential gap in cancer risk surveillance and prevention efforts.
The study, titled “Testing for Hereditary Cancer Genes in Men: A Missed Opportunity for Cancer Prevention,” sheds light on the disparity in genetic testing uptake between men and women. While genetic testing is a crucial tool for identifying inherited cancer risks, men appear to be slipping through the cracks, potentially impacting early intervention and cancer prevention strategies.
Understanding the Gender Disparity in Genetic Testing
Genetic testing for inherited cancer syndromes plays a vital role in identifying individuals at risk, allowing for proactive monitoring and early intervention. Women have historically benefited from such testing, with medical associations recommending assessments for hereditary breast and ovarian cancer syndromes, particularly for those with a family history or specific ancestries like Ashkenazi Jewish descent.
However, the same emphasis has not been placed on men, despite established protocols for conditions such as Lynch syndrome and BRCA1/2 variants. The lack of published studies on hereditary cancer testing in men has limited understanding of their testing patterns and the factors influencing uptake. This study aims to bridge that gap, especially given the higher cancer-related morbidity and mortality rates in men.
Comparing Testing Patterns by Sex
The researchers conducted a retrospective analysis of laboratory cancer testing data from over 224,000 individuals between June 2020 and August 2023. The findings revealed that only 5% of those tested were men, underscoring a significant gender imbalance. Men were also older at the time of testing, with an average age of 54 compared to 43 for women.
Men were more likely to undergo testing due to Ashkenazi Jewish ancestry and were seven times more likely to be tested through cascade testing after a relative’s pathogenic variant was identified. Despite these factors, men were less likely to report a family history of cancer, with missing data more common among them.
Men were more likely to receive clinically significant results, with a 14% positivity rate for pathogenic variants compared to 8% in women.
Analyzing the Implications of Testing Disparities
Men’s testing often occurs post-cancer diagnosis, primarily to guide treatment decisions. This reactive approach contrasts with preventive strategies and may contribute to the underutilization of genetic testing among men. Factors such as lower engagement with preventive healthcare and reduced health-seeking behavior further exacerbate this issue.
Current risk assessment tools, largely designed for women, may not accurately identify men who could benefit from testing, particularly those with prostate cancer. Men with pathogenic BRCA1/2 variants are less likely to receive genetic counseling, affecting not only their cancer risk but also that of their relatives.
Improving Male-Focused Cancer Risk Prediction Tools
The study’s authors recommend several actions to address these disparities:
- Enhancing research to better document family cancer history among men.
- Optimizing hereditary cancer risk prediction tools focused on men.
- Identifying and addressing barriers to genetic counseling and preventive care for men.
- Integrating hereditary cancer screening more fully into routine healthcare for men, especially in primary care settings.
The study utilized a large patient sample from across the U.S., including many individuals without a personal cancer history. However, reliance on patient-reported data may introduce recall bias, and the older average age of men could contribute to selection bias. Most tests were ordered through women’s health clinics, which may limit the generalizability of the findings.
Looking Forward: Closing the Testing Gap
The findings underscore the urgent need for greater integration of routine screening for hereditary cancer risk factors for men in primary care settings. By understanding and addressing the barriers to genetic testing, healthcare professionals can ensure better cancer outcomes for men and their families.
Future research should focus on establishing the barriers to testing in men and increasing awareness among healthcare providers about the importance of such screenings. By doing so, the medical community can work towards closing the gap in cancer prevention and improving health outcomes for men at risk of hereditary cancers.
