Understanding of Management Guidelines in Patients with Lynch Syndrome

Lynch syndrome is an autosomal dominant hereditary cancer syndrome with relatively high prevalence. It is estimated that more than one million Americans have Lynch syndrome, and more than 95% have not been identified. Identification of these individuals is important so that measures can be taken for prevention or early detection of associated cancers. No existing studies assess how well individuals with Lynch syndrome understand these guidelines; some prior studies have assessed adherence to colonoscopies, the recommendation with the most evidence, with mixed results. The purpose of this study was to survey adults with a diagnosis of Lynch syndrome, to assess their understanding of and adherence to management guidelines and to learn about their experiences with healthcare providers and any barriers to following guidelines. A survey was distributed through two Lynch syndrome advocacy groups, Lynch Syndrome International and AliveAndKickn, via Facebook, Twitter, and email listservs. The survey had 312 responses; 278 of those responses met eligibility criteria and were analyzed. Most participants had above average education and household income. More than 70% of respondents indicated they had a colonoscopy in the past 12 months, and more than 95% understood they should have colonoscopies at least every two years. This survey provides a starting point for research surrounding education and understanding of medical management guidelines for individuals with Lynch syndrome. While the results indicate a high understanding of and adherence to management guidelines, the non-representative demographics may limit the generalizability of the study findings. Future studies should aim to assess a more representative sample of individuals with Lynch syndrome, and consider how best to educate and increase access to genetic counseling and education for newly diagnosed individuals. The identification of more individuals with Lynch syndrome is an important public health genetics goal in order to increase surveillance in this group and decrease morbidity and mortality associated with cancer; attempts to achieve this goal should include a plan to educate and increase access to care for those with a new diagnosis.