Moreira Inês, Guimarães Lídia, Paneque Milena
ICBAS, School of Medicine and Biomedical Sciences, University of Porto, Porto, Portugal.
i3S - Institute for Research and Innovation in Health, University of Porto, Porto, Portugal.
J Genet Couns. 2025 Aug;34(4):e70093. doi: 10.1002/jgc4.70093.
Genetic counseling arose as a field in the late 1960s in the United States, with the creation of the first master's level degree. Since then, the profession has expanded globally, with several training degrees being established and genetic counselors integrated into national healthcare systems. In Portugal, though the profession is yet to be recognized, a master's degree in genetic counseling was established in 2009 at ICBAS (University of Porto). Fifteen years later, and with the everlasting progress in the genetics field, to investigate how to continue improving and advancing genetic counseling education in Portugal, a qualitative, exploratory study was designed. Fourteen supervisors from the second-year annual placement of the MSc degree were invited to participate in semi-structured interviews about their expectations and perceptions regarding the master's. Reflexive thematic analysis was used for the qualitative data gathered. Ten supervisors took part in this study, with 17 years as the average experience in the genetics field. Four key themes were constructed from the data. First, supervisors identified specific challenges in genetic counseling education, including limited infrastructure at host institutions-which restricts the type and depth of supervision that can be provided-and the need to adapt internship plans to students' diverse educational backgrounds. They also emphasized the importance of strengthening collaboration between educators and supervisors to ensure better alignment between academic preparation and practical training. The second theme centered on the experience of being a supervisor in the genetic counseling master's program. Supervisors' responses revealed diverse supervision styles and limited knowledge of the program's academic components. They also highlighted the students' motivating presence and the strong sense of purpose they felt when training new professionals. The third key theme concerned the integration of genetic counselors within genetic services. Supervisors acknowledged the added value genetic counselors bring to clinical settings, despite ongoing changes in service provision and limited career opportunities. The final theme related to misconceptions about the profession's scope of practice and training. This study provides insightful strategies to continue the development and improvement of the genetic counseling training in Portugal, and enhances the urgency of integrating these professionals into the healthcare system, with the ultimate purpose of promoting a more effective and comprehensive delivery of genetic counseling services in the country.
遗传咨询作为一个领域于20世纪60年代末在美国兴起,当时设立了首个硕士学位。从那时起,该专业在全球范围内得到了扩展,设立了多个培训学位,遗传咨询师也融入了各国的医疗保健系统。在葡萄牙,尽管该专业尚未得到认可,但2009年波尔图大学药学院(ICBAS)设立了遗传咨询硕士学位。十五年后,随着遗传学领域的不断进步,为了研究如何在葡萄牙继续改进和推进遗传咨询教育,设计了一项定性探索性研究。邀请了硕士学位二年级年度实习的14位导师参加关于他们对该硕士学位的期望和看法的半结构化访谈。对收集到的定性数据采用反思性主题分析。10位导师参与了这项研究,他们在遗传学领域的平均经验为17年。从数据中构建了四个关键主题。首先,导师们确定了遗传咨询教育中的具体挑战,包括实习机构的基础设施有限——这限制了能够提供的监督类型和深度——以及需要根据学生不同的教育背景调整实习计划。他们还强调了加强教育工作者和导师之间合作的重要性,以确保学术准备和实践培训更好地协调一致。第二个主题围绕担任遗传咨询硕士项目导师的经历。导师们的回答揭示了不同的监督风格以及对该项目学术内容的了解有限。他们还强调了学生带来的激励以及在培训新专业人员时他们感受到的强烈使命感。第三个关键主题涉及遗传咨询师融入遗传服务。导师们承认,尽管服务提供不断变化且职业机会有限,但遗传咨询师为临床环境带来了附加价值。最后一个主题与对该职业实践范围和培训的误解有关。本研究提供了有见地的策略,以继续发展和改进葡萄牙的遗传咨询培训,并增强将这些专业人员融入医疗保健系统的紧迫性,最终目的是在该国促进更有效和全面的遗传咨询服务提供。