Stafford-Smith Bethany, Gurasashvili Jana, Peter Michelle, Daniel Morgan, Balasubramanian Meena, Bownass Lucy, Brennan Paul, Cleaver Ruth, Clowes Virginia, Costello Philandra, DeSouza Bianca, Dubois Louise, Harrison Rachel, Hawkes Lara, Jones Elizabeth A, Kraus Alison, McEntagart Meriel, Somarathi Suresh, Taylor Amy, Tripathi Vishakha, Chitty Lyn S, Hill Melissa
NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK.
Eur J Hum Genet. 2024 Nov 5. doi: 10.1038/s41431-024-01716-6.
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.
“十万基因组计划”(100kGP)的参与者可以同意接收额外的检测结果(AF),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。在本文报道的研究中,采用定性访谈的方式,探讨了来自英格兰各地的国民医疗服务体系(NHS)专业人员的经历,他们负责向100kGP参与者反馈超过80,000份“无AF”结果和700份阳性AF结果。对45名来自不同背景的专业人员进行了访谈,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。采用编码本主题分析方法对访谈进行了分析。反馈AF结果是一项重大的工作,在NHS服务能力已经紧张的情况下,在流程、行政程序以及临床和实验室时间方面都面临挑战。专业人员讨论了如何“超越常规”,通过设计流程、增设诊所、加班、延长预约时间以及提供随访预约来优先考虑患者护理。专业人员还描述了在反馈AF结果时面临的实际和情感挑战。强调了患者从100kGP中接收AF结果的益处,并且专业人员总体上对在常规NHS临床护理中提供具有临床可操作性的AF结果持积极态度。然而,专业人员对将AF结果纳入常规护理持谨慎态度,认为需要更多的研究和讨论来确定提供哪些AF结果、同意的方式和结果的沟通、成本以及对NHS能力和资源的潜在压力。在临床实践中提供AF结果之前,需要进行进一步的咨询,并仔细审查流程和资源。