Implementing Population-Based Screening and Cascade Testing for Lynch Syndrome: Summary of a Public Health/Clinical Collaborative Meeting

Lynch syndrome is the most common cause of inherited colorectal cancer (CRC), accounting for approximately 3% of all CRC cases in the United States. In 2009, an evidence-based review process conducted by the Evaluation of Genomic Applications in Practice and Prevention (EGAPP) working group resulted in a recommendation to screen all newly diagnosed CRC cases for Lynch syndrome, with the intent of reducing morbidity and mortality in family members. To explore the challenges and opportunities involved in implementing the EGAPP recommendation, the Centers for Disease Control and Prevention convened a multi-disciplinary working meeting. This presentation reviews the background and rationale for considering population-based screening of all CRC cases for Lynch syndrome, and summarizes existing challenges and potential strategies which emerged from the meeting, also published in a paper in Genetics in Medicine in 2011. While it was recognized that implementation will present substantial challenges, evidence of potential feasibility and population health benefits, as well as the advantages of considering a public health approach, were acknowledged. Lynch syndrome can potentially serve as a model to facilitate the development and implementation of population-level programs for evidence-based genomic medicine applications involving cascade testing of relatives. Such endeavors will require multi-level and multi-disciplinary approaches building upon collaborative public health and clinical partnerships.