Bethany Stafford-Smith, Jana Gurasashvili, Michelle Peter, Morgan Daniel, Meena Balasubramanian, Lucy Bownass, Paul Brennan, Ruth Cleaver, Virginia Clowes, Philandra Costello, Bianca DeSouza, Louise Dubois, Rachel Harrison, Lara Hawkes, Elizabeth A Jones, Alison Kraus, Meriel McEntagart, Suresh Somarathi, Amy Taylor, Vishakha Tripathi, Lyn S Chitty, Melissa Hill
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引用次数: 0
摘要
十万基因组计划(100kGP)的参与者可以同意接收额外发现(AF)结果,即与癌症易感性和家族性高胆固醇血症(FH)相关基因的个体变异。在本文所报告的研究中,采用了定性访谈的方法来探讨英格兰国民健康服务(NHS)专业人员的经验,他们的任务是向 100kGP 参与者返回 80,000 多份 "无 AF "结果和 700 份阳性 AF 结果。我们对 45 位不同背景的专业人员进行了访谈,其中包括遗传咨询师、临床遗传学家、FH 临床护士专家和临床科学家。访谈采用了代码集主题分析法进行分析。在 NHS 服务能力已经捉襟见肘的情况下,返回 AF 结果是一项重大的工作,对路径、行政流程以及临床和实验室时间都是挑战。专业人员讨论了如何通过路径设计、增加门诊、加班、延长预约时间和提供后续预约等方式,"不遗余力 "地优先考虑患者护理。专业人员还描述了在返还抗逆转录病毒药物时面临的实际和情感挑战。专业人士强调了在 100kGP 中接受抗逆转录病毒治疗对患者的益处,并普遍对在常规 NHS 临床护理中提供临床可操作的抗逆转录病毒治疗持积极态度。但是,专业人士对在常规护理中实施心房颤动检查持谨慎态度,并认为需要进行更多的研究和讨论,以确定提供哪些心房颤动检查、同意和结果沟通的方法、成本以及对 NHS 能力和资源的潜在压力。在临床实践中提供心房颤动检查之前,需要进一步咨询,并对路径和资源进行仔细审查。
"I'm quite proud of how we've handled it": health professionals' experiences of returning additional findings from the 100,000 genomes project.
Participants in the 100,000 Genomes Project (100kGP) could consent to receive additional finding (AF) results, individual variants relating to genes associated with susceptibility to cancer and familial hypercholesterolemia (FH). In the study reported here, qualitative interviews were used to explore the experiences of National Health Service (NHS) professionals from across England who were tasked with returning over 80,000 "no AF" results and 700 positive AF results to 100kGP participants. Interviews were conducted with 45 professionals from a range of backgrounds, including Genetic Counsellors, Clinical Geneticists, FH Clinical Nurse Specialists and Clinical Scientists. Interviews were analysed using a codebook thematic analysis approach. Returning AF results has been a significant endeavour, with challenges for pathways, administrative processes and clinical and laboratory time when the capacity of NHS services is already stretched. Professionals discussed going "above and beyond" to prioritise patient care through pathway design, additional clinics, overtime, longer appointments and provision of follow-up appointments. Professionals also described facing practical and emotional challenges when returning AFs. Benefits for patients from receiving AFs in the 100kGP were highlighted and professionals were generally positive about offering clinically actionable AFs within routine NHS clinical care. Professionals were, however, cautious around the implementation of AFs into routine care and felt more research and discussion was needed to determine which AFs to offer, approaches to consent and communication of results, costs and the potential strain on NHS capacity and resources. Further consultation is required with careful review of pathways and resources before offering AFs in clinical practice.
期刊介绍:
The European Journal of Human Genetics is the official journal of the European Society of Human Genetics, publishing high-quality, original research papers, short reports and reviews in the rapidly expanding field of human genetics and genomics. It covers molecular, clinical and cytogenetics, interfacing between advanced biomedical research and the clinician, and bridging the great diversity of facilities, resources and viewpoints in the genetics community.
Key areas include:
-Monogenic and multifactorial disorders
-Development and malformation
-Hereditary cancer
-Medical Genomics
-Gene mapping and functional studies
-Genotype-phenotype correlations
-Genetic variation and genome diversity
-Statistical and computational genetics
-Bioinformatics
-Advances in diagnostics
-Therapy and prevention
-Animal models
-Genetic services
-Community genetics