Groepper Daniel, McCarthy Veach Patricia, LeRoy Bonnie S, Bower Matthew
Department of Pediatrics, Southern Illinois University School of Medicine, 301 N. 8th St., PO Box 19658, Springfield, IL, 62794, USA,
J Genet Couns. 2015 Aug;24(4):580-96. doi: 10.1007/s10897-014-9787-3. Epub 2014 Nov 16.
Laboratory-based genetic counseling is a growing and yet under researched specialty. In this study, 111 laboratory-based genetic counselors employed in various settings (commercial, academic, etc.) completed an online survey assessing demographics and frequency of encountering 16 domains of ethical and professional challenges encountered by clinical genetic counselors defined previously by McCarthy Veach et al. and validated by Bower et al. Forty-nine of the laboratory genetic counselors also provided anecdotes of particularly challenging situations and strategies for their resolution. Most respondents had less than 5 years' experience as laboratory counselors (71 %), worked full-time (75 %) in industry-based laboratories (91 %) with a focus on molecular diagnostics (84 %), and had limited patient contact (91 %). Similar to clinical counselors, every ethical and professional challenge was endorsed as occurring frequently by some respondents. The most common frequently occurring domains for the sample were: facing uncertainty, time and financial resource allocation, attaining and maintaining proficiency, and informed consent. Content analysis of respondents' anecdotes yielded themes that most commonly concerned: professional identity issues, value conflicts, confidentiality, and colleague error. One unique domain labeled professional communication (educating professionals with limited genetics knowledge), and three salient categories within the professional identity domain--gatekeeping, conflicts of interest, and professional image--were extracted from the anecdotes. The most prevalent strategy for resolving challenging situations was inform health care professional. Results suggest laboratory-based genetic counselors generally face similar ethical and professional challenges as clinical genetic counselors but their exact nature and relative frequency differ. These findings contribute to a greater understanding of common and unique experiences of genetic counselors in different professional specialties.
基于实验室的遗传咨询是一个不断发展但仍未得到充分研究的专业领域。在本研究中，111名受雇于不同机构（商业、学术等）的基于实验室的遗传咨询师完成了一项在线调查，该调查评估了人口统计学特征以及遇到由麦卡锡·维奇等人先前定义并经鲍尔等人验证的临床遗传咨询师所面临的16个伦理和专业挑战领域的频率。49名实验室遗传咨询师还提供了特别具有挑战性的情况的轶事以及解决这些情况的策略。大多数受访者作为实验室咨询师的经验少于5年（71%），全职工作（75%）于以行业为基础的实验室（91%），专注于分子诊断（84%），并且与患者的接触有限（91%）。与临床咨询师类似，一些受访者认可每项伦理和专业挑战都经常发生。该样本中最常见的频繁出现的领域是：面对不确定性、时间和财务资源分配、获得并保持专业能力以及知情同意。对受访者轶事的内容分析得出了最常见的主题：职业身份问题、价值冲突、保密以及同事失误。从轶事中提取了一个名为专业沟通（对遗传学知识有限的专业人员进行教育）的独特领域，以及职业身份领域内的三个突出类别——把关、利益冲突和职业形象。解决具有挑战性情况的最普遍策略是告知医疗保健专业人员。结果表明，基于实验室的遗传咨询师通常面临与临床遗传咨询师类似的伦理和专业挑战，但具体性质和相对频率有所不同。这些发现有助于更深入地了解不同专业领域遗传咨询师的共同和独特经历。
