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回顾与展望:实验室遗传咨询师的历史视角

Looking back and moving forward: an historical perspective from laboratory genetic counselors.

作者信息

Zetzsche Lindsay H, Kotzer Katrina E, Wain Karen E

机构信息

Department of Laboratory Medicine and Pathology, Biochemical Genetics Laboratory, Mayo Clinic, Rochester, MN, USA.

出版信息

J Genet Couns. 2014 Jun;23(3):363-70. doi: 10.1007/s10897-013-9670-7. Epub 2013 Nov 12.

DOI:10.1007/s10897-013-9670-7
PMID:24217982
Abstract

Despite a consistent increase in genetic counselors who report working in laboratory positions, there is a relative dearth of literature on laboratory genetic counseling. Semi-structured interviews were completed with nine laboratory genetic counselors to document how positions were created and have changed with time. Interview transcriptions were analyzed for emerging themes. Several common themes were identified, including that early positions were often part-time, laboratory-initiated and had a lack of job definition. Laboratory genetic counselors commented on their evolving roles and responsibilities, with their positions becoming more technical and specialized over time and many taking on managerial and supervisory roles. All genetic counselors surveyed reported using core genetic counseling skills in their positions. The expansion of diagnostic testing and quickly evolving technology were common themes in regards to the future of laboratory genetic counselors, and participants commented on laboratory genetic counselors having expanding roles with data management, result interpretation and reporting, and guidance of other healthcare providers. Other comments included the impact of competition among laboratories and how training programs can better prepare genetic counseling students for a career in the laboratory setting. This study describes the emergence, and subsequent evolution, of laboratory genetic counseling positions as a significant subspecialty of genetic counseling.

摘要

尽管报告从事实验室岗位工作的遗传咨询师人数持续增加,但关于实验室遗传咨询的文献相对较少。我们对九名实验室遗传咨询师进行了半结构化访谈,以记录这些岗位是如何设立的以及随时间发生了哪些变化。对访谈记录进行了分析,以找出新出现的主题。确定了几个共同主题,包括早期岗位通常是兼职的、由实验室发起且缺乏工作定义。实验室遗传咨询师对他们不断演变的角色和职责发表了看法,随着时间的推移,他们的岗位变得更加技术化和专业化,许多人承担了管理和监督角色。所有接受调查的遗传咨询师都报告在其岗位上运用了核心遗传咨询技能。诊断检测的扩展和快速发展的技术是关于实验室遗传咨询师未来的常见主题,参与者评论说实验室遗传咨询师在数据管理、结果解释和报告以及对其他医疗保健提供者的指导方面的作用不断扩大。其他评论包括实验室之间竞争的影响以及培训项目如何能更好地让遗传咨询专业学生为实验室工作做好准备。本研究描述了实验室遗传咨询岗位作为遗传咨询一个重要亚专业的出现及后续演变。

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