Ciucă Andrada, Moldovan Ramona, Băban Adriana
Department of Psychology, Babeş-Bolyai University, Cluj-Napoca, Romania.
Division of Evolution and Genomic Sciences, School of Biological Science, University of Manchester, Manchester, UK.
J Community Genet. 2021 Oct;12(4):539-548. doi: 10.1007/s12687-021-00546-z. Epub 2021 Sep 20.
Genetic counselling services are well established in North America, Western Europe and Australia. In other regions, genetic counselling services are still emerging. Where this is the case, an in-depth understanding of the main stakeholders' needs, challenges and opportunities will inform the changes and innovations required to bring genetic counselling closer to the community. The present study explored the needs and challenges of patients, family members and professionals with a view to setting up a cancer genetic counselling service in Romania. In order to get a comprehensive outlook, key stakeholders were interviewed using data source triangulation method. Thirty-four semi-structured interviews were conducted (13 patients, 11 family members and 10 professionals). Thematic analysis was used to explore and identify needs, barriers and opportunities in emerging cancer genetic counselling services. Three major themes were identified: (1) the "Needs" theme mainly focuses on various types of support that participants mentioned wanting: psychosocial, peer and additional support; (2) the "Challenges" theme includes aspects related to limited access to healthcare, lack of integrated services and pressure on the families; (3) the "Hopes" theme highlights the wish for integrated healthcare and an empathic rapport with healthcare providers. Our findings highlighted the main needs, challenges and hopes the patients, family members and professionals have and provides the groundwork for setting up cancer genetic counselling services.
遗传咨询服务在北美、西欧和澳大利亚已得到充分确立。在其他地区，遗传咨询服务仍在兴起。在这种情况下，深入了解主要利益相关者的需求、挑战和机遇，将为使遗传咨询更贴近社区所需的变革和创新提供依据。本研究探讨了患者、家庭成员和专业人员的需求与挑战，以期在罗马尼亚建立癌症遗传咨询服务。为了获得全面的观点，采用数据来源三角测量法对关键利益相关者进行了访谈。共进行了34次半结构化访谈（13名患者、11名家庭成员和10名专业人员）。采用主题分析法探索和确定新兴癌症遗传咨询服务中的需求、障碍和机遇。确定了三个主要主题：（1）“需求”主题主要关注参与者提到的各种支持需求：心理社会支持、同伴支持和额外支持；（2）“挑战”主题包括与医疗保健获取受限、缺乏综合服务以及家庭压力相关的方面；（3）“希望”主题强调了对综合医疗保健以及与医疗服务提供者建立共情关系的愿望。我们的研究结果突出了患者、家庭成员和专业人员的主要需求、挑战和希望，并为建立癌症遗传咨询服务奠定了基础。
