精神疾病的遗传咨询:探索葡萄牙家庭医生和精神科医生目前的看法。

IF 1.5 Q4 GENETICS & HEREDITY
Journal of Community Genetics Pub Date : 2025-04-01 Epub Date: 2025-02-19 DOI:10.1007/s12687-025-00774-7
B Ribeiro, I Homem de Melo, A Sequeira, R Moldovan, M Paneque
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引用次数: 0

摘要

遗传咨询在20世纪60年代作为一门专门的保健学科出现,从那时起,各种亚专业在全球范围内发展起来,即最近的精神病学遗传咨询。这项研究提供了一个开创性的探索家庭医生和精神科医生的看法关于遗传咨询提供和它的潜力在葡萄牙精神疾病的背景下。采用半结构化访谈的定性方法。在参与者中,5名是家庭医生,6名是精神科医生。主题分析揭示了三个主题:(1)遗传学在医疗保健中的作用;(2)精神病学遗传咨询实施的障碍;(3)与实施相关的感知利益。结果表明,虽然遗传学在精神疾病中的重要性得到了承认,但接受采访的专业团体对遗传咨询实践的了解程度很低。此外,基因检测的可得性和主流化似乎也影响到人们如何看待和利用遗传咨询。人们认为有必要进行培训和制定指导方针,促进遗传学在医疗保健,特别是精神保健领域的传播。一种以病人为中心的整体方法被认为是管理精神疾病乃至精神遗传咨询必不可少的,因为它涉及医疗和社会心理因素。尽管精神科医生和家庭医生热衷于将精神病遗传咨询纳入他们的病人护理中,但似乎在遗传保健提供方面仍然存在某些基本挑战。未来的研究应有助于更全面地评估该国实施精神病学遗传咨询的准备情况。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Genetic counselling for psychiatric conditions: exploring current perceptions of family physicians and psychiatrists in Portugal.

Genetic counselling emerged as a specialized healthcare discipline in the 1960s, and since then, various sub-specialties have developed globally, namely and more recently, psychiatric genetic counselling. This study provides a pioneering exploration of family physicians and psychiatrists' perceptions regarding genetic counselling provision and its potentialities in the context of psychiatric illnesses in Portugal. A qualitative methodology with semi-structured interviews was used. Among the participants, five were family physicians, and six were psychiatrists. Thematic analysis revealed three themes: (1) the role of genetics in healthcare, (2) barriers to psychiatric genetic counselling implementation, and (3) perceived benefits associated with its implementation. Results show that while the importance of genetics in psychiatric disorders is acknowledged, there is low literacy about genetic counselling practice from the professional groups interviewed. Also, the availability and mainstreaming of genetic testing seem to influence how genetic counselling is perceived and utilized. There is a perceived need for training and guidelines that foster the dissemination of genetics into healthcare, specifically mental healthcare. A holistic and patient-centred approach is considered essential in managing psychiatric disorders and, by extension, in psychiatric genetic counselling, as it addresses both medical and psychosocial factors. Although psychiatrists and family physicians are keen to integrate psychiatric genetic counselling into their patients' care, it seems that certain fundamental challenges still persist in genetic healthcare provision. Future research should contribute for a more comprehensive evaluation of the readiness for psychiatric genetic counselling implementation in the country.

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来源期刊
Journal of Community Genetics
Journal of Community Genetics GENETICS & HEREDITY-
CiteScore
3.30
自引率
5.30%
发文量
54
期刊介绍: The Journal of Community Genetics is an international forum for research in the ever-expanding field of community genetics, the art and science of applying medical genetics to human communities for the benefit of their individuals. Community genetics comprises all activities which identify persons at increased genetic risk and has an interest in assessing this risk, in order to enable those at risk to make informed decisions. Community genetics services thus encompass such activities as genetic screening, registration of genetic conditions in the population, routine preconceptional and prenatal genetic consultations, public education on genetic issues, and public debate on related ethical issues. The Journal of Community Genetics has a multidisciplinary scope. It covers medical genetics, epidemiology, genetics in primary care, public health aspects of genetics, and ethical, legal, social and economic issues. Its intention is to serve as a forum for community genetics worldwide, with a focus on low- and middle-income countries. The journal features original research papers, reviews, short communications, program reports, news, and correspondence. Program reports describe illustrative projects in the field of community genetics, e.g., design and progress of an educational program or the protocol and achievement of a gene bank. Case reports describing individual patients are not accepted.
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