Graduate School of Health, University of Technology Sydney, Chippendale, NSW, Australia.
Centre for MND research, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, Australia.
Amyotroph Lateral Scler Frontotemporal Degener. 2022 Nov;23(7-8):562-574. doi: 10.1080/21678421.2022.2051553. Epub 2022 Mar 27.
Genetic counseling and diagnostic genetic testing are considered part of the multidisciplinary care of individuals with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). We aimed to investigate the ideal components of genetic counseling for ALS/FTD diagnostic testing amongst various stakeholders using an online, modified Delphi survey. Experts in genetic counseling and testing for ALS/FTD were purposively then snowball recruited and included genetic health professionals, health professionals outside of genetics and consumer experts (patients, relatives, and staff representatives from ALS/FTD support organizations). First-round items were informed by two systematic literature reviews and qualitative interviews with patients and families who had experienced diagnostic testing. Analysis of each round informed the development of the subsequent round and the final results. Forty-six experts participated in the study, 95.65% completed both rounds. After round one, items were updated based on participant responses and were presented again for consensus in round two. After round two, a high level of consensus (≥80% agreement) was achieved on 16 items covering various topics related to genetic counseling service delivery, before and after diagnostic testing is facilitated. Genetic counseling for individuals with ALS/FTD and their families should include the provision of client-centered counseling, education and support throughout. The items developed are adaptable to varied healthcare settings and may inform a standard of genetic counseling practice for health professionals who facilitate testing and counseling discussions. This area of work is timely, given demand for testing is likely to increase as more genotype-driven clinical trials become available.
遗传咨询和诊断性基因检测被认为是肌萎缩侧索硬化症（ALS）和额颞叶痴呆（FTD）个体多学科治疗的一部分。我们旨在使用在线改良 Delphi 调查研究各种利益相关者对 ALS/FTD 诊断性检测遗传咨询的理想内容。然后，有目的地招募 ALS/FTD 遗传咨询和检测方面的专家，并包括遗传健康专业人员、遗传学以外的健康专业人员和消费者专家（来自 ALS/FTD 支持组织的患者、亲属和工作人员代表）。第一轮的项目是由两项系统文献回顾和对经历过诊断性检测的患者和家庭的定性访谈得出的。每一轮的分析都为下一轮的发展和最终结果提供了信息。46 名专家参与了这项研究，95.65%的专家完成了两轮。在第一轮之后，根据参与者的反馈更新了项目，并在第二轮再次进行了共识。在第二轮之后，在 16 项与提供基因咨询服务相关的各种主题上达成了高度共识（≥80%的同意率），这些主题涵盖了在促进诊断性检测之前和之后的客户为中心的咨询、教育和支持。为 ALS/FTD 患者及其家属提供的遗传咨询应该包括提供以客户为中心的咨询、教育和支持。所制定的项目适用于各种医疗保健环境，并可为促进检测和咨询讨论的健康专业人员提供遗传咨询实践的标准。鉴于随着更多基于基因型的临床试验的出现，检测需求可能会增加，因此这一领域的工作具有及时性。
