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医学遗传学家与遗传咨询师之间的互补性:其在欧洲遗传服务中的附加价值。

Complementarity between medical geneticists and genetic counsellors: its added value in genetic services in Europe.

作者信息

Paneque Milena, Serra-Juhé Clara, Pestoff Rebecka, Cordier Christophe, Silva João, Moldovan Ramona, Ingvoldstad Charlotta

机构信息

i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal.

IBMC - Institute for Molecular and Cell Biology, Universidade do Porto, Porto, Portugal.

出版信息

Eur J Hum Genet. 2017 Aug;25(8):918-923. doi: 10.1038/ejhg.2017.76. Epub 2017 May 17.

Abstract

Clinical genetic services have progressed significantly the last few decades. This has led to the need for non-medical health-care professionals working as genetic counsellors in Europe and worldwide. However, there is no unified approach to genetic counsellors' role in health-care services in Europe, as in most countries the profession is still emerging and the educational backgrounds diverge noticeably, within and between countries. This qualitative study aims to describe the potential added value of genetic counsellors in clinical genetics teams and to explore their tasks and responsibilities in different European countries. A total of 143 participants providing genetic counselling in Europe at the time of the survey responded. The results show differences in activities of genetic counsellors, although there is a wide range of roles, which are similar. The ability to establish a quality relationship with consultands was frequently mentioned as one of the strengths of genetic counsellors, as well as a patient-centred approach. It is believed that genetic counsellors add a more holistic approach of psychosocial and familial dimensions of genetic concerns to the multidisciplinary teams. This study provides examples of successful integration of genetic counsellors in teams, as complementariness with medical geneticist became clear in several cases. Although the added value of genetic counsellors was manifested, professional recognition of genetic counsellors across Europe is still needed in order to support the quality of patients care and safety of practice.

摘要

在过去几十年里,临床遗传学服务取得了显著进展。这导致在欧洲乃至全球,需要非医学专业的医护人员担任基因咨询师。然而,在欧洲的医疗保健服务中,对于基因咨询师的角色并没有统一的模式,因为在大多数国家,这个职业仍在兴起,而且在不同国家内部以及国家之间,其教育背景差异明显。这项定性研究旨在描述基因咨询师在临床遗传学团队中的潜在附加值,并探索他们在不同欧洲国家的任务和职责。共有143名在调查时在欧洲提供基因咨询服务的参与者做出了回应。结果显示,尽管基因咨询师的角色范围广泛且相似,但他们的活动存在差异。与咨询者建立良好关系的能力以及以患者为中心的方法经常被提及为基因咨询师的优势之一。人们认为,基因咨询师为多学科团队带来了一种更全面的方法,涉及基因问题的心理社会和家庭层面。这项研究提供了基因咨询师成功融入团队的例子,因为在一些案例中,他们与医学遗传学家的互补性变得很明显。尽管基因咨询师的附加值已经显现,但为了保障患者护理质量和执业安全,欧洲仍需要对基因咨询师给予专业认可。

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