It is becoming increasingly common for people to openly identify as transgender, yet there is little research in the field of genetic counseling regarding this community's unique medical needs. Transgender patients are likely to present with issues that cross genetics and gender‐related care in a cancer genetic counseling session, and empiric data about these differences is needed to provide adequate care. In order to investigate what specific health topics and concerns are addressed in cancer genetic counseling sessions with transgender patients, 21 cancer genetic counselors who have seen transgender patients were interviewed. Through inductive analysis, six themes emerged: (1) documentation systems are not inclusive or clear; (2) genetic counselors feel unprepared for these sessions; (3) gender affirming hormones impact risk assessment; (4) genetic testing affects gender affirming surgical decisions; (5) transgender patients present at younger ages to clinic; and (6) pathogenic variants allow for insurance coverage for gender affirming surgeries. This study's findings point to opportunities for the field of genetic counseling to enhance services for transgender patients by reporting distinctive situations that may arise in clinic with these patients and providing training recommendations for genetic counselors.
Increased usage of exome and genome sequencing has made uncertainties associated with genomic sequencing methods more prevalent within medicine. Current research focuses on patients' perceptions of uncertainty related to genomic sequencing, but there is limited knowledge of the perspectives of providers. The aim of this study was to explore how professionals in genomics perceive uncertainties involved in genomic sequencing, and if or how this impacts their approach to pretest counseling. We performed 20 semi‐structured interviews with genetic counselors in the United States and Canada who provide pretest genetic counseling for genomic sequencing. Interviews explored participating genetic counselors' views of uncertainty regarding genomic sequencing, how they classify it, how it manifests, and how they manage it during pretest counseling. Thematic analysis showed that genetic counselors acknowledge concepts of uncertainty that map to existing frameworks of uncertainty for genomic sequencing. Genetic counselors also perceived incongruencies between patients' and providers' expectations of genomic sequencing, which prompted them to modify patients' perceptions of uncertainty related to genomic sequencing. All genetic counselors agreed that guidance and strategies for genomic sequencing pretest counseling would be helpful, particularly for novice genetic counselors and non‐genetics providers. These findings highlight the need and potential for conceptual models of uncertainty and uncertainty management strategies to facilitate patient‐centered pretest counseling for genomic sequencing.
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