德语国家在人类遗传服务中引入遗传咨询师的初步经验。

IF 1.9 4区 医学 Q3 GENETICS & HEREDITY Journal of Genetic Counseling Pub Date : 2024-11-11 DOI:10.1002/jgc4.1979
Simone Heidemann, Johannes Zschocke, Gunda Schwaninger
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引用次数: 0

摘要

2019 年,因斯布鲁克医科大学在德语国家开设了首个遗传与基因组咨询硕士课程。这一过程中面临的一个主要挑战是,这些国家缺乏执业遗传咨询师(GC),导致遗传咨询师在医疗遗传服务方面缺乏经验,也缺乏该职业的法律框架。因此,在项目开始时,学生和他们的指导顾问都没有临床遗传学家和遗传咨询师之间团队合作的经验。为了分享最初实施阶段的心得体会,我们邀请了七所学生实习机构的指导顾问参加了以开放式问题为引导的半结构化访谈。从这些访谈中,我们发现了遗传学家和临床遗传学家之间跨专业团队合作的三种模式:(1)交替或串联模式,(2)合格的初步和后续患者访谈,以及(3)提供遗传(咨询)服务而不提供法律意义上的遗传咨询。此外,受访者还提出了一些建议,以解决法律问题,并在德语国家内为遗传学家有效建立适当的补偿结构。据参与研究的临床遗传学家估计,整合全球遗传学家有可能将他们的咨询能力提高 50%。重要的是,他们并没有预见到加入 GC 会导致咨询质量下降。这项研究提供的证据表明,遗传学专业可以为人类遗传学服务提供额外的技能,并对德语国家的患者支持和遗传学服务的整体能力产生积极影响。
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First experiences with the introduction of genetic counselors in human genetic services in the German-speaking countries.

In 2019, the Medical University of Innsbruck introduced the first Genetic and Genomic Counseling master's program in the German-speaking countries. A major challenge of this process was the absence of practicing Genetic Counselors (GC) in these countries, leading to a lack of experience with GCs in medical genetic services and the absence of a legal framework for the profession. Consequently, student placements within the program commenced with neither the students nor their supervising consultants having any previous experience of collaborative teamwork between clinical geneticists and GCs. To share insights from the initial implementation phase, supervising consultants from the seven student placement institutes were invited to participate in semi-structured interviews guided by open-ended questions. From these interviews, three models of interprofessional teamwork between GCs and clinical geneticists emerged: (1) the alternating or tandem model, (2) qualified preliminary and follow-up patient interviews, and (3) the provision of genetic (counseling) services without genetic counseling in the legal sense. In addition, the interviewees provided recommendations for addressing legal concerns and for the effective establishment of appropriate compensation structures for GCs within the German-speaking countries. Clinical geneticists taking part in the study estimated that the integration of GCs could potentially enhance their counseling capacity by as much as 50%. Importantly, they did not foresee any reduction in counseling quality caused by the inclusion of GCs. This study provides evidence that the GC profession can provide additional skills to human genetic services and positively impact both patient support and overall capacity of genetic services also in the German-speaking countries.

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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
Exploring genetic counselors' interest and role in transitional care discussions for pediatric patients with neurodevelopmental conditions. Assessing and attending to psychosocial concerns in genetic counseling: Proposing the BATHE method. First experiences with the introduction of genetic counselors in human genetic services in the German-speaking countries. Parent experiences with genetic testing for pediatric hearing loss. Genetic testing and counseling for hypertrophic cardiomyopathy: An evidence-based practice resource of the National Society of Genetic Counselors.
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