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成为实验室基因咨询师所需的额外培训——一项定性探索

Need for additional training to be a laboratory genetic counselor-A qualitative exploration.

作者信息

Schwartz Lisa, Mackall Mia S, Arjunan Aishwarya, Goodenberger McKinsey, Mills Rachel, Witherington Sarah

机构信息

Department of Biomedical Laboratory Sciences, The George Washington University, Ashburn, Virginia, USA.

Division of Sales Operations, Natera, Inc., Austin, Texas, USA.

出版信息

J Genet Couns. 2023 Dec;32(6):1249-1265. doi: 10.1002/jgc4.1746. Epub 2023 Jul 26.

DOI:10.1002/jgc4.1746
PMID:37493003
Abstract

Opportunities for genetic counselors to work in the laboratory have grown exponentially, yet the professional development needed to serve in these roles had not been previously explored. This study aimed to identify competencies required for entry-level genetic counselors working in the laboratory, explore the perceived level of preparation of these competencies as noted by experts in the laboratories, and assess the perceived value of additional credentialing for genetic counselors practicing in these settings. Twenty genetic counselors working in the laboratory setting and five MD or PhD laboratory managers, identified through purposeful and snowball sampling and with at least 5 years of experience working in a laboratory, were interviewed using a semi-structured protocol. Transcripts were analyzed thematically using deductive and inductive coding. Key findings included the distinction of laboratory and industry roles as involving nondirect patient care and differing from genetic counseling roles in the clinical setting. Genetic counselors working in the laboratory feel well prepared to transition into this setting and provide a unique patient-focused perspective to laboratory roles, including variant interpretation, marketing, and product development. Practice-based competencies (PBCs) were translatable to those used in the laboratory, yet variant interpretation, limitations of genomics-based tests, and the business of health care were noted as important to these roles but not fully addressed in the PBCs. Additional skills were often developed through on-the-job training and interdisciplinary collaboration, but more exposure to diverse roles in genetic counseling programs' didactic and field training was recommended. The majority felt that requiring an additional post-master's credential to work in the laboratory setting may restrict movement into these roles. Several questioned their identity as genetic counselors as they were no longer providing direct patient care and/or had been dissuaded by others from pursuing a laboratory position. Research focused on professional identity among genetic counselors working in nondirect patient care roles is warranted.

摘要

遗传咨询师在实验室工作的机会呈指数级增长,但此前尚未探索过担任这些职位所需的专业发展。本研究旨在确定在实验室工作的初级遗传咨询师所需的能力,探讨实验室专家所指出的这些能力的感知准备水平,并评估在这些环境中执业的遗传咨询师额外获得资质认证的感知价值。通过目的抽样和滚雪球抽样确定了20名在实验室环境中工作的遗传咨询师以及5名医学博士或博士实验室经理,他们都在实验室工作至少5年,使用半结构化方案进行访谈。使用演绎和归纳编码对访谈记录进行主题分析。主要发现包括实验室和行业角色的区别,即不涉及直接的患者护理,与临床环境中的遗传咨询角色不同。在实验室工作的遗传咨询师认为自己已做好充分准备过渡到这种环境,并为实验室角色提供独特的以患者为中心的视角,包括变异解读、市场营销和产品开发。基于实践的能力(PBCs)可转化为实验室中使用的能力,但变异解读、基于基因组学检测的局限性以及医疗保健业务被认为对这些角色很重要,但在PBCs中并未得到充分解决。额外的技能通常通过在职培训和跨学科合作来培养,但建议在遗传咨询项目的教学和实地培训中更多地接触不同角色。大多数人认为,要求在实验室环境中工作获得额外的硕士后资质认证可能会限制进入这些角色。一些人质疑他们作为遗传咨询师的身份,因为他们不再提供直接的患者护理,和/或被其他人劝阻不要追求实验室职位。有必要开展针对从事非直接患者护理角色的遗传咨询师职业身份的研究。

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J Genet Couns. 2025 Feb;34(1):e1883. doi: 10.1002/jgc4.1883. Epub 2024 Feb 9.