Pestoff Rebecka, Johansson Peter, Nilsen Per, Gunnarsson Cecilia
Centre for Rare Diseases in Southeast Region of Sweden, Linköping University, 58185, Linköping, Sweden.
Division of Community Medicine, Department of Medical and Health Sciences, Faculty of Medicine Health Sciences, Linköping University, Linköping, Sweden.
J Community Genet. 2019 Jul;10(3):407-415. doi: 10.1007/s12687-018-00404-5. Epub 2019 Jan 8.
Genetic counseling services are increasing in demand and limited in access due to barriers such as lack of professional genetic counselors, vast geographic distances, and physical hurdles. This research focuses on an alternative mode of delivery for genetic counseling in Sweden, in order to overcome some of the mentioned barriers. The aim of this study is to identify factors that influence the implementation and use of telegenetic counseling in clinical practice, according to health care professionals in Southeast Sweden. Telegenetic counseling refers to the use of video-conferencing as a means to provide genetic counseling. Qualitative, semi-structured interviews with 16 genetic counseling providers took place and phenomenographic analysis was applied. Significant excerpts were identified in each transcript, which led to sub-categories that constructed the main findings. Three categories emerged from the data: (1) requirements for optimal use, (2) impact on clinical practice, and (3) patient benefits. Each category consists of two or three sub-categories, in total seven sub-categories. These findings could potentially be used to improve access and uptake of telegenetic counseling in Sweden and in other countries with a similar health care system. This could benefit not only remote patient populations, as described in previous research, but also large family groups and patients experiencing obstacles in accessing genetic counseling, such as those with a psychiatric illness or time constraints, and be a useful way to make genetic counseling available in the new era of genomics.
由于缺乏专业的遗传咨询师、地理距离遥远以及身体障碍等因素，遗传咨询服务的需求不断增加，但可及性却很有限。这项研究聚焦于瑞典遗传咨询的另一种提供方式，以克服上述一些障碍。本研究的目的是根据瑞典东南部的医疗保健专业人员，确定影响远程遗传咨询在临床实践中实施和使用的因素。远程遗传咨询是指利用视频会议作为提供遗传咨询的一种方式。对16名遗传咨询提供者进行了定性的半结构化访谈，并应用了现象学分析。在每份访谈记录中都确定了重要的片段，这些片段形成了构成主要发现的子类别。数据中出现了三个类别：（1）最佳使用的要求，（2）对临床实践的影响，以及（3）患者受益。每个类别由两到三个子类别组成，总共七个子类别。这些发现可能有助于改善瑞典以及其他具有类似医疗保健系统的国家对远程遗传咨询的获取和采用。这不仅可以使先前研究中所述的偏远患者群体受益，还可以使大家庭群体以及在获取遗传咨询方面遇到障碍的患者受益，例如患有精神疾病或时间受限的患者，并且是在基因组学新时代提供遗传咨询的一种有用方式。
