遗传咨询监督:奢侈品还是必需品?对葡萄牙遗传保健专业人员的定性研究

IF 1.6 4区 医学 Q3 GENETICS & HEREDITY European journal of medical genetics Pub Date : 2023-12-22 DOI:10.1016/j.ejmg.2023.104908
Lídia Guimarães , Ruxanda Baião , Catarina Costa , Marina Lemos , Margarida Rangel Henriques , Milena Paneque
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引用次数: 0

摘要

近年来,遗传学领域的技术有了重大发展,导致从事医学遗传学工作的专业人员数 量增加,遗传咨询工作也随之大幅增长。与此同时,人们越来越认识到安全工作所依据的参数,这些参数不仅涉及专业人员的技术技能,还涉及他们的咨询技能,包括关系和移情技能,以及对遗传咨询工作可能产生的情感影响的认识。然而,尽管人们对遗传咨询的了解越来越多,但欧洲各国之间仍存在显著差异,其中遗传咨询监督方面的差异尤为明显。因此,如果说有些国家的专业人员甚至不知道遗传咨询督导,那么在另一些国家,遗传咨询督导则是执业的强制性要求。本研究的目的是了解葡萄牙是否以及如何提供遗传咨询督导,确定督导过程中应探讨的遗传咨询常规、挑战和影响,并理解专业人员认为应如何进行督导才能有效。共有 16 名来自葡萄牙主要遗传服务机构的医学遗传学家参加了两个在线焦点小组。与会者一致认为,由于遗传咨询经常会遇到具有挑战性和情绪化的时刻,因此此类服务对专业人员尤为重要。讨论中还提到了临床督导、督导的特点和遗传咨询督导实施的实际问题。这些结果凸显了在我国建立遗传咨询督导常规和标准化指南的现实意义,以及对其在专业和实践层面的影响进行循证研究的必要性。
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Genetic counselling supervision: Luxury or necessity? A qualitative study with genetic healthcare professionals in Portugal

In recent years, there has been a significant technological evolution in the field of genetics, leading to an increase in the number of professionals working in medical genetics and, consequently, a tremendous growth in genetic counselling. At the same time, there has been a growing recognition of the parameters on which to base a safe practice, not only regarding the technical skills of the professional but also regarding their counselling skills, including relational and empathy skills and the acknowledgement of the emotional impact that genetic counselling practice can have. However, despite this growing knowledge, there are still significant differences between the various European countries, and one area where this discrepancy is particularly evident is genetic counselling supervision. Thus, if there are countries where genetic counselling supervision is not even known by the professionals, there are others where it is mandatory for practice. This research had as an objective to understand if and how genetic counselling supervision is provided in Portugal, to identify routines, challenges and impacts of genetic counselling that should be explored in a supervision process and comprehend how professionals believe supervision should be conducted to be effective. A total of sixteen medical geneticists from main Portuguese genetic services were present in two online focus groups. None of the participants had access to genetic counselling supervision as a programmed routine and there was a consensus that a service of this kind would be particularly important for the professionals as genetic counselling has frequently challenging and emotional moments. Aspects regarding clinical supervision, the characteristics of the supervisor and the practical aspects of genetic counselling supervision implementation were also mentioned during the discussions. These results highlight the relevancy of the establishment of GC supervision routines and standardized guidelines in our country, as well as a need for evidence-based research focused on its impact at professional and practice level.

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来源期刊
CiteScore
4.10
自引率
0.00%
发文量
193
审稿时长
66 days
期刊介绍: The European Journal of Medical Genetics (EJMG) is a peer-reviewed journal that publishes articles in English on various aspects of human and medical genetics and of the genetics of experimental models. Original clinical and experimental research articles, short clinical reports, review articles and letters to the editor are welcome on topics such as : • Dysmorphology and syndrome delineation • Molecular genetics and molecular cytogenetics of inherited disorders • Clinical applications of genomics and nextgen sequencing technologies • Syndromal cancer genetics • Behavioral genetics • Community genetics • Fetal pathology and prenatal diagnosis • Genetic counseling.
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