Genomics England Limited, London, UK.
Public Health Genomics. 2024;27(1):210-227. doi: 10.1159/000541935. Epub 2024 Oct 11.
The Generation Study (GS) aims to recruit 100,000 newborns in England to evaluate the utility and feasibility of using whole genome sequencing to screen for rare conditions that can be treated in early childhood; enable wider research to support further discovery in genomics and health; and explore the potential of storing an individual's genome over their lifetime. The GS incorporates complexities of consent in newborn screening, genomic medicine, and healthcare research, and there is a gap in exploring how to implement existing recommendations. Participant involvement has been shown to improve the implementation of processes and materials in healthcare. This paper describes how the GS team leveraged this through Design Research (DR) methodologies to develop the GS consent experience.
Over a 2-year period, 9 rounds of DR were undertaken with expectant and recent parents and a chosen partner (n = 105). Each round consisted of semi-structured interviews and a range of co-design and usability testing activities.
DR activities highlighted areas for consideration for consent materials and processes. We describe common barriers and enablers across three stages of consent: awareness, consideration, and making an informed decision. As well as ensuring participants fully understand pros and cons of taking part, materials should consider pre-existing assumptions or misconceptions which may discourage parents from learning about the GS.
Involving parents in co-creation has broadened the perspective of what constitutes informed decision-making for newborn genome sequencing. Iterative rounds of research and design can provide tangible paths forward, supporting the successful implementation of informed decision-making.
Generation Study（GS）旨在招募 10 万名英国新生儿，以评估使用全基因组测序筛查可在儿童早期治疗的罕见疾病的效用和可行性；为支持基因组学和健康领域的进一步发现提供更广泛的研究；并探索在一生中存储个体基因组的潜力。GS 包含了新生儿筛查、基因组医学和医疗保健研究中同意的复杂性，并且在探索如何实施现有建议方面存在差距。参与者的参与已被证明可以改善医疗保健中流程和材料的实施。本文描述了 GS 团队如何通过设计研究（DR）方法利用这一点来开发 GS 同意体验。
在两年的时间里，与预期和最近的父母以及选定的合作伙伴（n=105）进行了 9 轮 DR。每轮包括半结构化访谈以及一系列共同设计和可用性测试活动。
DR 活动突出了同意材料和流程需要考虑的领域。我们描述了同意的三个阶段（意识、考虑和做出明智的决定）中常见的障碍和促成因素。除了确保参与者充分了解参与的利弊之外，材料还应考虑可能阻止父母了解 GS 的预先存在的假设或误解。
让父母参与共同创造拓宽了对新生儿基因组测序知情决策的理解。反复的研究和设计可以提供切实可行的前进道路，支持知情决策的成功实施。
