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.

中文翻译：

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遗传咨询师在未确诊疾病网络研究中的作用：临床护理、合作和管理


遗传咨询师 (GC) 越来越多地在研究团队中担任重要职位，但描述 GC 在这些环境中的作用的文献有限。未诊断疾病网络 (UDN) 研究团队中的 GC 在整个研究网络中担任各种角色，并提供了更好地了解遗传咨询师在研究中的角色的机会。为了定量描述定期执行的任务以及从这些任务中获得的专业成就感，以逐步的方式对 UDN GC 进行了两项调查。第一个自由答复调查的答复引出了任务范围，为第二个结构化多项选择调查的制定提供了信息。在调查 2 中，受访者被要求选择他们所扮演的角色。在 19 名受访者中，调查 2 中的角色总共收到 947 个选择，平均每个角色大约有 10 个选择。当被要求说明他们扮演的角色时，受访者平均选择了 50 个角色（范围 22-70）。通过响应的主题编码和层次聚类分析来分析调查 2 的数据，以识别响应的模式。从主题分析中，出现了 7 个类别的 20 个不重叠的代码：临床互动和护理、沟通、策展、领导、参与者管理、研究和团队管理。代表 GC 在 UDN 中角色的类别中出现了三个主题：临床护理、协作和管理。聚类分析表明，同一机构内个人之间的反应比机构之间的反应更为相似。这项研究强调了 GC 在临床转化研究网络背景下应用其独特技能的方式。 此外，这项研究的结果强化了遗传咨询培训中核心技能的广泛适用性。临床素养、基因组学专业知识和分析、人际交往、心理社会和咨询技能、教育、专业实践技能以及对研究过程的理解使遗传咨询师非常适合此类角色，并准备对参与者的研究经验和结果产生积极影响。