Genetic counselor roles in the undiagnosed diseases network research study: Clinical care, collaboration, and curation

Abstract

Genetic counselors (GCs) are increasingly filling important positions on research study teams, but there is limited literature describing the roles of GCs in these settings. GCs on the Undiagnosed Diseases Network (UDN) study team serve in a variety of roles across the research network and provide an opportunity to better understand genetic counselor roles in research. To quantitatively characterize the tasks regularly performed and professional fulfillment derived from these tasks, two surveys were administered to UDN GCs in a stepwise fashion. Responses from the first, free-response survey elicited the scope of tasks which informed development of a second structured, multiple-select survey. In survey 2, respondents were asked to select which roles they performed. Across 19 respondents, roles in survey 2 received a total of 947 selections averaging approximately 10 selections per role. When asked to indicate what roles they performed, respondent selected a mean of 50 roles (range 22-70). Survey 2 data were analyzed via thematic coding of responses and hierarchical cluster analysis to identify patterns in responses. From the thematic analysis, 20 non-overlapping codes emerged in seven categories: clinical interaction and care, communication, curation, leadership, participant management, research, and team management. Three themes emerged from the categories that represented the roles of GCs in the UDN: clinical care, collaboration, and curation. Cluster analyses showed that responses were more similar among individuals at the same institution than between institutions. This study highlights the ways GCs apply their unique skill set in the context of a clinical translational research network. Additionally, findings from this study reinforce the wide applicability of core skills that are part of genetic counseling training. Clinical literacy, genomics expertise and analysis, interpersonal, psychosocial and counseling skills, education, professional practice skills, and an understanding of research processes make genetic counselors well suited for such roles and poised to positively impact research experiences and outcomes for participants.

Keywords: Genetic counseling; expanded roles; genetic counselors; professional development; research.

Figure 1:. Study Procedures

Flowchart summarizing study procedures and analyses.

Figure 2:. Clustering by Respondent

Hierarchical clustering of survey 2 respondents. Respondents are grouped by similarity of roles performed. Colored boxes delineate individual clusters (k=8). R1-R19 refer to individual respondent IDs (n=19). Colored circles beneath respondent IDs reflect the respondent’s UDN site: Site 1 (red) =R18, R15, R12; Site 2 (light blue)=R2, R7; Site 3 (purple)=R3, R10, R8, R9; Site 4 (green)=R4; Site 5 (gold)=R13, R19, R5; Site 6 (grey)=R6, R17, R14; Site 7 (dark blue)=R1; Site 8 (black)=R11, R16.