Abstract
The increasing prevalence of identified hereditary cancer syndromes in adults poses an opportunity for patients to make informed decisions about their reproductive futures, including the option to pursue pre-implantation genetic testing for monogenic disorders (PGT-M). Uptake of PGT-M for adult-onset conditions is growing, and although ASRM, ACOG, ASCO, and NCCN have released general guidelines that support discussion of PGT-M for adult-onset hereditary cancer syndromes; these guidelines need to be further refined to guide clinical care. Research on reproductive options in the cancer genetics field to date has focused on how patients perceive PGT-M. Some studies have noted that patients were not adequately informed about PGT-M, which suggests providers may not be consistent in their discussions of PGT-M. To better understand the current practices of cancer genetic counselors with regards to discussions about PGT-M, an anonymous survey was deployed to assess what factors influenced the discussion of PGT-M, extent of discussion, and resources available for providers. The majority of the 96 respondents discuss PGT-M with all gene positive patients or gene positive patients of reproductive age (77.1%). Only 1% would never discuss PGT-M with patients. About 83% of respondents identified patient interest as a crucial factor in the decision to discuss PGT-M. This was closely followed by reproductive plans (81.3%) and age of the patient (77.1%) as factors the influenced counselors’ decisions to provide information about PGT-M. Other themes that emerged throughout the survey were the importance of autosomal recessive implications for certain genes and reproductive plans of at-risk family members. These themes and the factors discussed above played a major role in decision-making throughout the three clinical scenarios included in the survey, where the majority of providers used similar factors to make a decision to discuss PGT-M. Overall, providers in this cohort were in agreement that patients with adult-onset hereditary cancer syndromes want and need information about reproductive options, including PGT-M. It is key to codify and share this standard of care across the profession to provide patients with comprehensive reproductive options that include PGT-M for adult-onset hereditary cancer syndromes.