Co-Creating the Experience of Consent for Newborn Genome Sequencing: The Generation Study.

IF 1.3 4区 医学 Q4 GENETICS & HEREDITY Public Health Genomics Pub Date : 2024-01-01 Epub Date: 2024-10-11 DOI:10.1159/000541935
Mathilde Leblond, Mirabai Galati, Jonathan Roberts, Harriet Etheredge, Nancy Willacy, Öznur Özkurt, Amanda Pichini
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Abstract

Introduction: 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.

Methods: 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.

Results: 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.

Conclusion: 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.

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共同创造新生儿基因组测序同意体验(一代研究)。
简介:基因组研究(GS)的目标是在英格兰招募 10 万名新生儿,以评估利用全基因组测序筛查罕见疾病的实用性和可行性,从而在儿童早期就能得到治疗;开展更广泛的研究,以支持基因组学和健康领域的进一步探索;以及探索在个体一生中存储其基因组的潜力。全球基因组研究结合了新生儿筛查、基因组医学和医疗保健研究中同意的复杂性,在探索如何实施现有建议方面还存在差距。实践证明,参与者的参与可以改善医疗保健流程和材料的实施。本文介绍了 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:方法:在两年时间内,对准父母、新父母和选定的伴侣(人数=105)进行了 9 轮设计研究。每一轮都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:结果:DR 活动强调了在同意材料和流程时需要考虑的领域。我们描述了在同意的三个阶段中常见的障碍和促进因素:认识、考虑和做出知情决定。除了确保参与者充分了解参与的利弊之外,材料还应考虑可能会阻碍家长了解 GS 的原有假设或误解:让家长参与共同创作拓宽了新生儿基因组测序知情决策的视角。一轮又一轮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。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Public Health Genomics
Public Health Genomics 医学-公共卫生、环境卫生与职业卫生
CiteScore
2.90
自引率
0.00%
发文量
14
审稿时长
>12 weeks
期刊介绍: ''Public Health Genomics'' is the leading international journal focusing on the timely translation of genome-based knowledge and technologies into public health, health policies, and healthcare as a whole. This peer-reviewed journal is a bimonthly forum featuring original papers, reviews, short communications, and policy statements. It is supplemented by topic-specific issues providing a comprehensive, holistic and ''all-inclusive'' picture of the chosen subject. Multidisciplinary in scope, it combines theoretical and empirical work from a range of disciplines, notably public health, molecular and medical sciences, the humanities and social sciences. In so doing, it also takes into account rapid scientific advances from fields such as systems biology, microbiomics, epigenomics or information and communication technologies as well as the hight potential of ''big data'' for public health.
期刊最新文献
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