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Background: Reflex screening for Lynch Syndrome (LS) has been recommended, however occurs in few jurisdictions worldwide. We aimed to explore program structure, pathology testing, implementation challenges and future directions of existing reflex LS screening programs in various jurisdictions to develop best practices for future programs. Methods: We identified existing reflex LS screening programs through a literature search and expert opinion. Information on program implementation, patient population, family care involvement, monitoring and improvements was collected through semi-structured interviews with program leaders, pathologists, technical staff, and family physicians. Pattern, thematic and content analysis were used to analyze and extract program features, sequence of pathological testing and best practices. Results: 26 participants across 7 programs completed interviews. There were 3 government-funded, population-based programs (Manitoba, Western Australia, and New South Wales), 2 private health management organization programs implemented across affiliated healthcare centers (Pennsylvania and Southern California); and 2 hospital-based programs (Ohio and Utah). Five programs screened all patients with CRC for LS while 2 programs designated an upper age limit for screening. The majority of programs tested tumor samples for LS using a combination of immunohistochemistry and BRAF mutation analysis. In jurisdictions relying on surgeons' referral to genetic counseling without navigation, uptake of genetic testing was lower than expected. Programs implementing early education of surgeons and pathologists in reflex screening procedures reported confidence in skills, collaboration and communication. Communication materials for family members of affected individuals were recommended to increase family engagement in genetic counselling. Conclusions: There are a variety of reflex LS screening programs with varying standards and protocols. Program design influences uptake of genetic testing; programs with an imbedded navigation plan for those who need genetic counseling enhance rates of adherence. This should be an important consideration when planning future reflex screening programs.
