Testing for hereditary cancer genes in men: a missed opportunity for cancer prevention

Genetic testing for inherited cancer risk syndromes can inform targeted surveillance and intervention, but testing for male patients is inadequately addressed by medical literature and clinical guidelines despite having higher cancer-related mortality and morbidity than women. Here, we evaluate characteristics and hereditary cancer testing practices and outcomes in men compared to women.

This retrospective study analyzed hereditary cancer testing data from a commercial laboratory between 06/2020-08/2023. Outcomes assessed included demographics, personal and family cancer histories, ordering clinic type, gene panel size, test results (pathogenic/likely pathogenic, or negative), and the frequency of clinically actionable variants based on National Comprehensive Cancer Network and other guidelines. Comparisons between men and women were analyzed using odds ratios from Fisher's exact test and Wilcoxon rank test.

Of the 224,041 individuals receiving hereditary cancer testing, only 10,936 (5%) were men. Compared to women, men were significantly older at testing (54 vs. 43 years; p<0.001), had higher odds of personal cancer history (OR, 2.67; 95% CI, 2.55 to 2.79), and had lower odds of family cancer history (OR, 0.50; 95% CI, 0.48 to 0.53). Testing orders for men were more likely to come from primary care or specialty clinics. Men had higher odds of testing positive for a pathogenic or likely pathogenic variant and for actionable gene variants.

Men represented a minority in genetic testing for hereditary cancers but had higher test positivity rates. These findings underscore the need for greater integration of routine screening for hereditary cancer risk factors for men in primary care settings to enhance early detection and preventive measures. Addressing testing barriers and promoting awareness among healthcare providers has the potential to improve cancer outcomes for male patients and their families.