Abstract
Lynch syndrome is an autosomal dominant cancer disorder responsible for 2-3% of all diagnosed colorectal cancers. Currently, clinical genetic testing can identify a carrier of Lynch syndrome through a mutation in their MMR genes (MLH1, MSH2, MSH6 and PMS2). As Lynch syndrome is a hereditary syndrome, the knowledge that a family member has a gene mutation in one of the MMR genes may impact an individual’s health and lifestyle. Previous studies have shown that strategies and interventions to help reduce the barriers to dissemination of genetic test results to at-risk relatives are needed. The aim of this study was to ascertain what strategies and instruments genetic counselors identify as the most useful in helping patients share their positive Lynch syndrome MMR mutation genetic test results with at-risk family members, as well as help inform the family members of their potential risks. We recruited cancer genetic counselors who had counseled patients with Lynch syndrome within the past five years through the National Society of Genetic Counselors listserv and the NSGC Familial Cancer Risk Special Interest Group listserv to complete an anonymous, online survey. Of the 142 survey respondents, 97.6% reported that their patients expressed interest in sharing information about their diagnosis with their at-risk family members. Among the approaches, strategies and/or materials used, genetic counselors reported that a letter from a genetic counselor to a patient (98.2%) was the most used tool, while an institution’s online resource (9.6%) was the least used tool. Overall, most genetic counselors (88%) were satisfied with the tools they currently use. Additionally, genetic counselors reported that the tools they use are both effective and helpful to patients. Future research should look more carefully at patients’ perceptions of tools that were successful at helping them share their positive Lynch syndrome genetic test results with at-risk family members.