Enhancing Cancer Outcomes Through Improved Lynch Syndrome Testing: A Cost-Effectiveness Analysis

Recent research highlights the crucial role of accurate Lynch syndrome (LS) testing in improving cancer prevention and management strategies. Although testing colorectal tumors for mismatch repair (MMR) defects has been recommended for years, a significant portion of patients with abnormal results do not proceed to the next steps, including genetic counseling and testing. This gap often results in missed diagnoses of LS and unnecessary healthcare costs.

A Yale-led study, published in the journal Clinical Gastroenterology and Hepatology, emphasizes that comprehensive genetic testing can accurately identify LS carriers, enabling targeted preventive measures for both patients and their at-risk relatives. Current data from the Lynch Database and the NCI SEER program reveal that only 28% to 45% of eligible patients undergo LS testing, limiting the potential for early intervention.

At Yale New Haven Health, a dedicated process to overcome barriers to genetic testing has doubled the detection of LS among colorectal cancer patients. When LS is diagnosed, family members can also be tested, allowing for early preventative actions such as regular screenings and lifestyle modifications, which substantially reduce their cancer risk.

The study compared three strategies for LS detection: the existing standard-of-care, an optimized Yale model, and universal upfront germline testing for all colorectal cancer patients. Findings show that the current standard is not cost-effective, whereas both Yale’s approach and universal testing demonstrate significant economic benefits. These approaches presuppose that identified LS patients will facilitate testing among their relatives, further enhancing cost-effectiveness.

As the costs of genetic testing decrease, widespread availability makes universal testing a viable and effective strategy. Dr. Xavier Llor, MD, Ph.D., co-senior author and director of Yale’s GI and Pancreatic Cancer Prevention Program, states that universal testing could dramatically increase LS diagnoses, allowing more individuals to benefit from preventive care and ultimately reducing healthcare costs.

Dr. George Goshua, co-senior author and Yale faculty member, emphasizes the importance of multidisciplinary teamwork and rigorous methodology in addressing real-world healthcare challenges, showing that both approaches are markedly more beneficial than traditional practices.

This research underscores the importance of integrating cost-effective genetic testing into routine care for colorectal cancer patients, facilitating early diagnosis of hereditary cancer syndromes and improving overall cancer prevention efforts.

Source: https://medicalxpress.com/news/2025-06-cancer-outcomes-lynch-syndrome-benefit.html