Canadian Centre for Applied Research in Cancer Control, BC Cancer, Vancouver, Canada.
Nuffield Department of Population Health, Health Economics Research Centre, University of Oxford, Oxford, UK.
Eur J Hum Genet. 2021 Oct;29(10):1491-1501. doi: 10.1038/s41431-021-00882-1. Epub 2021 Apr 26.
Genomic testing is becoming routine for diagnosing rare childhood genetic disease. Evidence underlying sustainable implementation is limited, focusing on short-term endpoints such as diagnostic yield, unable to fully characterize patient and family valued outcomes. Although genomic testing is becoming widely available, evidentiary and outcomes uncertainty persist as key challenges for implementation. We examine whether the current evidence base reflects public tolerance for uncertainty for genomics to diagnose rare childhood genetic disease. We conducted focus groups with general population parents in Vancouver, Canada, and Oxford, United Kingdom, to discuss expectations and concerns related to genomic testing to diagnose rare childhood genetic disease. Applying a purposive sampling technique, recruitment continued until thematic saturation was reached. Transcripts were analysed using thematic analysis. Thirty-three parents participated across four focus groups. Participants valued causal diagnoses alongside management strategies to improve patient health and wellbeing. Further, participants valued expanding the evidence base to reduce evidentiary uncertainty while ensuring security of information. Willingness to pay out of pocket for testing reflected perceived familial health benefit. Diagnostic yield fails to fully capture valued outcomes, and efforts to resolve uncertainty better reflect public priorities. Evaluations of genomic testing that fully integrate valued endpoints are necessary to ensure consistency with best practices and public willingness to accept the uncertain familial benefit.
基因组检测在诊断儿童罕见遗传病方面已成为常规手段。但可持续实施的证据有限，主要集中在诊断率等短期终点上，无法充分描述患者和家庭重视的结果。尽管基因组检测已广泛应用，但证据和结果的不确定性仍是实施的关键挑战。我们研究了当前的证据基础是否反映了公众对诊断儿童罕见遗传病的基因组学的不确定性的容忍度。我们在加拿大温哥华和英国牛津进行了普通人群家长的焦点小组讨论，以讨论与诊断儿童罕见遗传病的基因组检测相关的期望和担忧。采用有目的的抽样技术，直到达到主题饱和为止继续招募。使用主题分析对转录本进行分析。共有 33 名家长参加了四个焦点小组。参与者重视因果诊断以及改善患者健康和福祉的管理策略。此外，参与者还重视扩大证据基础，以降低证据不确定性，同时确保信息安全。愿意自掏腰包进行检测反映了对家庭健康获益的认知。诊断率未能充分捕获重视的结果，而解决不确定性的努力则更好地反映了公众的优先事项。需要进行全面整合重视终点的基因组检测评估，以确保与最佳实践和公众接受不确定的家族获益保持一致。
