Learning by Example: An International Perspective on Reflex-Testing for Lynch Syndrome

Lynch syndrome (LS), an autosomal dominant cancer syndrome, is the most common cause of hereditary colon cancer. Currently, however, less than 5% of patients with LS have been identified. Reflex-testing programs (in which tumors of patients with colorectal cancer are routinely evaluated for LS) have been proposed for better identification of affected individuals, yet the uptake of these programs within health care systems is limited. This study explored the structure, implementation challenges, and future directions of existing international population-based reflex LS testing programs.

The study identified existing reflex-testing LS programs through the current literature and through a qualitative sampling approach. Key informants from each program were interviewed. Qualitative data were analyzed using a grounded theory analytic technique approach.

The interviews were completed by 26 informants across seven identified programs. Three key themes were identified: (1) tension between a program imposed on stakeholders (a top-down approach) versus initiation of the program at the stakeholder level (bottom-up approach), (2) identification of pathologists as drivers of program success, and (3) strategies to optimize possible LS patients liaising with genetic counselors. Barriers to successful implementation included lack of stakeholder engagement and concerns regarding cost. Facilitators included strong administration to coordinate patient tracking and flexibility during the implementation process.

Existing reflex-testing LS programs have varying structures, standards, and protocols. Program design can have a direct effect on the uptake of genetic testing. These are important considerations in the large-scale planning of LS reflex-testing programs within health systems.