Costa Catarina, Guimarães Lídia, Baião Ruxanda Lungu, Lemos Marina Serra de, Azevedo Luís Filipe, Paneque Milena
i3S-Institute for Research and Innovation in Health, University of Porto, R. Júlio Amaral de Carvalho, 45, Porto, 4200-135, Portugal.
IBMC-Institute of Molecular and Cellular Biology, University of Porto, Porto, Portugal.
J Community Genet. 2024 Jun;15(3):319-331. doi: 10.1007/s12687-024-00702-1. Epub 2024 Mar 1.
In the last decades, genetics has experienced significant technological advancements worldwide. However, in Portugal, serious limitations persist, compromising the functioning of healthcare in medical genetics. This study aimed to promote sharing and discussion among genetic medical professionals, to outline concrete actions to address gaps in clinical practice. Three focus groups were conducted with 19 specialists in medical genetics. The data were analyzed using the thematic analysis method to extract the main themes from the discussions. From the analysis, four conceptual themes emerged: (i) framing Portuguese genetic services in light of the European context; (ii) improvement of medical genetics education and population literacy; (iii) transforming of medical genetics services; and (iv) operationalizing the change. The results demonstrated that increasing training resources and strengthening multiprofessional teams by hiring more genetic professionals, such as clinical geneticists, molecular geneticists, and other genetic specialists, is crucial to enhancing the responsiveness of genetic services. Integrating medical genetics into all specialties and primary care, as well as updating the national network of medical genetics, are critical points for increasing equity and enabling healthcare to be provided more fairly. Including other medical genetics professionals such as genetic counsellors, nurses and psychologists also plays a significant role in providing comprehensive and quality care. This collaborative approach aims to provide effective genetic assistance and enhance the adequacy of genetic healthcare. The findings are compiled as recommendations to support the profession moving forward that can be applied to other healthcare contexts worldwide.
在过去几十年里，全球遗传学领域经历了重大的技术进步。然而，在葡萄牙，严重的限制仍然存在，影响了医学遗传学领域医疗保健的运作。本研究旨在促进遗传医学专业人员之间的交流与讨论，概述解决临床实践中差距的具体行动。与19位医学遗传学专家进行了三个焦点小组讨论。使用主题分析法对数据进行分析，以从讨论中提取主要主题。通过分析，出现了四个概念主题：(i) 根据欧洲背景构建葡萄牙的遗传服务框架；(ii) 改善医学遗传学教育和公众认知；(iii) 转变医学遗传学服务；(iv) 将变革付诸实践。结果表明，增加培训资源并通过雇佣更多遗传专业人员（如临床遗传学家、分子遗传学家和其他遗传专家）来加强多专业团队，对于提高遗传服务的响应能力至关重要。将医学遗传学融入所有专科和初级保健，以及更新国家医学遗传学网络，是提高公平性并使医疗保健能够更公平提供的关键点。纳入其他医学遗传学专业人员，如遗传咨询师、护士和心理学家，在提供全面和高质量护理方面也发挥着重要作用。这种协作方法旨在提供有效的遗传援助并提高遗传医疗保健的适切性。研究结果整理为建议，以支持该行业向前发展，这些建议可应用于全球其他医疗保健环境。
