Cascade testing refers to testing family members for a gene mutation after another family member is found to have a mutation. Once family members get cascade testing, they can also benefit from screening, cancer prevention, and early detection strategies. A study conducted a microsimulation model to look at the cost effectiveness of cascade testing of all close (first-degree) relatives. Results showed that cascade testing: lowered colorectal cancer cases by 61.0%, lowered deaths from colorectal cancer by 78.5%, and on average, led to 11 more colonoscopies in someone’s lifetime. These findings provide a number to how much cascade testing can help family members of patients with Lynch Syndrome newly diagnosed with colorectal cancer. Furthermore, showing the value of cascade testing in lowering the rates of colorectal cancer across generations may help patients talk with their family, and ultimately help family members see why they may want to move forward with genetic testing.
Rustgi, et al. Clin Gastroenterol Hepatol. 2025;23(10):1834-1845.e4. PMID: 40010417. Article available at: https://pubmed.ncbi.nlm.nih.gov/40010417/. Social media post available at: https://www.facebook.com/share/p/1AVaJ3eGU2/