Genetic counselor roles in the undiagnosed diseases network research study: Clinical care, collaboration, and curation.
Genetic counselor roles in the undiagnosed diseases network research study: Clinical care, collaboration, and curation.
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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。
DOI：
10.1002/jgc4.1493
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发表时间：
2022
影响因子：
1.9
通讯作者：
Wheeler,MatthewT
中科院分区：
文献类型：
--
作者：
Kohler,JenneferN;Kelley,EmilyG;Boyd,BrennaM;Sillari,CatherineH;Marwaha,Shruti;UndiagnosedDiseasesNetwork;Wheeler,MatthewT
遗传咨询师（GC）越来越多地填补研究团队的重要职位，但有有限的文献描述GC在这些设置中的作用。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，并提供了一个更好地了解遗传咨询师在研究中的角色的机会。为了定量地描述经常执行的任务和从这些任务中获得的专业成就感，以逐步的方式对UDN GC进行了两次调查。第一次自由回答调查的回答引出了任务范围，为第二次结构化多项选择调查的开发提供了信息。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中的角色共收到947份选择，平均每个角色约有10份选择。当被要求指出他们扮演的角色时，受访者选择了50个角色的平均值（范围22-70）。调查2的数据进行了分析，通过主题编码的响应和层次聚类分析，以确定响应模式。从主题分析中，20个不重叠的代码出现在七个类别中：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。三个主题出现在代表GCs在UDN中的角色的类别中：临床护理，协作和策展。聚类分析表明，在同一机构的个人之间的反应比机构之间更相似。这项研究强调了GC在临床转化研究网络中应用其独特技能的方式。此外，这项研究的结果加强了遗传咨询培训的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样的角色，并准备积极影响参与者的研究经验和成果。
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.