Genetic counselling for psychiatric conditions: exploring current perceptions of family physicians and psychiatrists in Portugal.

IF 1.5 Q4 GENETICS & HEREDITY Journal of Community Genetics Pub 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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Abstract

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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