Lungu Ruxanda, Guimarães Lídia, Costa Catarina, Paneque Milena
ICBAS School of Medicine and Biomedical Sciences, Universidade do Porto, Porto, Portugal.
CGPP - Centro de Genética Preditiva e Preventiva, IBMC - Instituto de Biologia Molecular e Celular, Porto, Portugal.
J Genet Couns. 2025 Jun;34(3):e1950. doi: 10.1002/jgc4.1950. Epub 2024 Jul 12.
Genetic counseling plays a crucial role in providing individuals and families with comprehensive information, support, and guidance regarding genetic conditions. This article explores the benefits of the integration of the genetic counselor (GC) professional in Portugal and based on evidence collected from two focus group comprising Portuguese medical geneticists. The findings highlight the agreement of medical geneticists on the relevancy of GCs' integration into national healthcare as well as the need for education and training programs to enhance the genetics literacy of other healthcare professionals and increase public awareness and support for genetic counseling services. By incorporating GCs and adopting some actions suggested by participants as part of a future national strategy, Portugal can improve access to personalized genetic services and empower individuals to make informed decisions about their genetic health.
遗传咨询在为个人和家庭提供有关遗传疾病的全面信息、支持和指导方面发挥着关键作用。本文探讨了葡萄牙整合遗传咨询师（GC）专业人员的益处，并基于从两个由葡萄牙医学遗传学家组成的焦点小组收集的证据。研究结果凸显了医学遗传学家对于将遗传咨询师纳入国家医疗体系的相关性的认同，以及开展教育和培训项目以提高其他医疗专业人员的遗传学素养、增强公众对遗传咨询服务的认识和支持的必要性。通过纳入遗传咨询师并采取参与者建议的一些行动作为未来国家战略的一部分，葡萄牙可以改善个性化遗传服务的可及性，并使个人能够就其遗传健康做出明智的决策。
