探讨遗传咨询师在临床中处理非亲子关系的经验。

IF 1.9 4区 医学 Q3 GENETICS & HEREDITY Journal of Genetic Counseling Pub Date : 2024-02-07 DOI:10.1002/jgc4.1881
Emma Cunningham, Stephen Hays, Tasha Wainstein, Heather Zierhut, Alice Virani, Rebecca Tryon
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引用次数: 0

摘要

非亲子关系(NP)是遗传学服务提供者面临的一个具有挑战性的难题,对于是否应该披露这一结果,目前还没有达成共识。文献中的讨论都是高度理论化的,而关于在实践中如何做出披露决定的研究却很有限。我们探讨了遗传咨询师(GCs)对 NP 的临床经验,以了解是否、如何以及为什么要通报这一结果。我们对美国和加拿大的遗传咨询师进行了半结构化访谈,并采用反思性主题分析法对数据进行归纳分析、描述主题,并对数据进行有意义的解释。我们对 18 位回复了列表服务信息的参与者进行了访谈。我们的框架描述了五个突出主题:(1) GC 与实验室的关系:GC 对实验室流程的认识,如可以发现 NP 发现的质量控制指标,以及实验室披露 NP 发现的方式,对披露决定产生了影响。这触发了一个决策轨迹,其中包括(2)咨询、(3)伦理推理和(4)实际限制。GC 在决策过程中经常咨询其他专业人员。这些谈话对披露决策产生了影响,其中一些咨询比其他咨询更重要。全科医生会权衡患者自主权、医学相关性和预防伤害等道德观念,从而做出合理的决定。与患者接触的机会和文件要求往往决定了披露的方式。最后,一旦做出决定并付诸实施,GCs 就会利用这次经验重新考虑他们在未来病例中的 (5) 同意方法,其中一些 GCs 改变了他们的试验前咨询,始终包括对 NP 的讨论。尽管 NP 情景的背景往往是独特的,但我们的研究结果表明,在通过临床基因检测鉴定 NP 的过程中,GCs 利用了几个共同的决策因素。
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Exploring genetic counselors' experiences with non-paternity in clinical settings.

Non-paternity (NP) is a challenging dilemma faced by genetics providers and there is little consensus on whether this finding should be disclosed. Discussions in the literature are highly theoretical, with limited research regarding how disclosure decisions are enacted in practice. We explored genetic counselors' (GCs) clinical experiences with NP to understand if, how, and why this finding is communicated. Our semi-structured interviews with genetic counselors in the United States and Canada were analyzed using reflexive thematic analysis to analyze data inductively, describe themes, and present a meaningful interpretation of the data. Eighteen participants who responded to list-serv messages were interviewed. Our framework describes five salient themes: (1) GC-lab relationship: the GCs awareness of laboratory processes such as quality control metrics that can uncover NP findings and the way in which a finding of NP was disclosed by the laboratory had an impact on disclosure decisions. This triggered a decision-making trajectory that involved (2) consultation, (3) ethical reasoning, and (4) practical constraints. GCs frequently consulted other professionals during decision-making. These conversations impacted disclosure decisions with some consultations carrying greater weight than others. GCs weighed moral concepts of patient autonomy, medical relevance, and preventing harm to rationalize decisions. Access to patients and documentation requirements often dictated how disclosure occurred. Finally, once a decision had been made and enacted, GCs used the experience to reconsider their approach to (5) consenting in future cases, with some GCs altering their pre-test counseling to always include a discussion of NP. Although NP scenarios are frequently unique in context, our findings demonstrate several common decision-making factors GCs harness to navigate the identification of NP through clinical genetic testing.

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来源期刊
Journal of Genetic Counseling
Journal of Genetic Counseling GENETICS & HEREDITY-
CiteScore
3.80
自引率
26.30%
发文量
113
审稿时长
6 months
期刊介绍: The Journal of Genetic Counseling (JOGC), published for the National Society of Genetic Counselors, is a timely, international forum addressing all aspects of the discipline and practice of genetic counseling. The journal focuses on the critical questions and problems that arise at the interface between rapidly advancing technological developments and the concerns of individuals and communities at genetic risk. The publication provides genetic counselors, other clinicians and health educators, laboratory geneticists, bioethicists, legal scholars, social scientists, and other researchers with a premier resource on genetic counseling topics in national, international, and cross-national contexts.
期刊最新文献
The current landscape of clinical exome and genome reanalysis in the U.S. A cross-sectional survey-based exploration of diversity in the admissions committees and student cohorts of genetic counseling programs over time. An analysis of direct-to-consumer genetic testing portals and their communication of health risk and test limitations. Patient perceptions of genetic counselors' role and emotional support needs in adults with Parkinson's disease Clinical genetic counselors' use of people‐ and identity‐first language in regard to patients' identification with disability
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