遗传咨询师(GC)越来越多地担任研究团队的重要职位,但描述GCs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作用的机会。为了定量表征定期执行的任务和从这些任务中获得的专业履行,对UDNGC进行了两项逐步调查.从第一个回应,自由反应调查引出了为第二个结构化发展提供信息的任务范围,多选调查。在调查2中,受访者被要求选择他们扮演的角色。在19名受访者中,调查2中的角色总共获得了947个选择,每个角色平均约10个选择。当被要求指出他们扮演的角色时,受访者平均选择了50个角色(范围22-70)。调查2数据通过响应的主题编码和层次聚类分析进行分析,以确定响应中的模式。从主题分析来看,在七个类别中出现了20个不重叠的代码:临床互动和护理,通信,策展,领导力,参与者管理,研究,和团队管理。代表GCs在UDN中的作用的类别中出现了三个主题:临床护理,合作,和策展。聚类分析表明,同一机构中的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GCs在临床转化研究网络中应用其独特技能的方式。此外,这项研究的发现加强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,人际关系,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这些角色,并准备对参与者的研究经验和成果产生积极影响。
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.