新生儿基因组筛查的知情同意:在不断发展的景观中动态同意的利益持有人观点。

IF 4 Q1 GENETICS & HEREDITY
Marina Okamura, Emma Minchin, Carolyn Mazariego, Jolyn Hersch, Natalie Taylor, Ilona Juraskova
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引用次数: 0

摘要

新生儿血斑筛查(NBS)显著推进了疾病的早期发现,预防了严重残疾和婴儿死亡。基因组技术有望整合到NBS (gNBS)中,从而实现早期诊断和靶向治疗。然而,它也带来了复杂性,需要加强同意程序。动态同意平台(dcp)具有分层信息和可修改的偏好,可以满足这种快速发展的需求。本定性研究探讨了NBS和基因组利益相关者的观点:(i)在当前和基因组NBS背景下获得知情同意的挑战,以及(ii) dcp在基因组学中的可接受性、可行性和实用性。参与NBS/基因组同意的16位关键利益相关者(助产士、遗传咨询师、遗传学家、研究人员、病理学家、消费者权益倡导者)完成了半结构化访谈。专题分析确定了四个主要主题:(i)展望基因组扩展,(ii)系统问题,(iii)基因组同意信息,(iv)动态同意平台。与会者强调修订同意过程的时间安排和对临床医生的同意培训进行标准化。国家标准化的DCP被认为对解决gNBS内部的同意挑战很有价值;然而,人们对弱势群体在线资源的可访问性以及将dcp纳入医疗保健系统的问题提出了关注。对未来的研究建议和临床意义在这一不断发展的领域进行了讨论。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Informed Consent for Newborn Genomic Screening: Interest-Holder Perspectives on Dynamic Consent in an Evolving Landscape.

Newborn Bloodspot Screening (NBS) has significantly advanced early disease detection, preventing severe disability and infant mortality. The anticipated integration of genomic technologies into NBS (gNBS) promises earlier diagnosis and targeted treatments. However, it also introduces complexities that necessitate enhanced consent processes. Dynamic Consent Platforms (DCPs), with their layered information and modifiable preferences, may fulfil this rapidly evolving need. This qualitative study explored NBS and genomic interest-holder perspectives on (i) challenges in obtaining informed consent within the current and genomic NBS contexts, and (ii) the acceptability, feasibility, and utility of DCPs for genomics. Sixteen key interest-holders involved in NBS/genomic consent (midwives, genetic counsellors, geneticists, researchers, pathologist, consumer advocate) completed a semi-structured interview. Thematic analysis identified four main themes: (i) looking towards genomic expansions, (ii) systemic issues, (iii) genomic consent information, and (iv) Dynamic Consent Platforms. Participants emphasised revising the timing of consent processes and standardising consent training for clinicians. A nationally standardised DCP was perceived as valuable for addressing consent challenges within gNBS; however, concerns were raised regarding accessibility of online resources for vulnerable populations and integrating DCPs into healthcare systems. Recommendations for future research and clinical implications in this evolving field are discussed.

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来源期刊
International Journal of Neonatal Screening
International Journal of Neonatal Screening Medicine-Pediatrics, Perinatology and Child Health
CiteScore
6.70
自引率
20.00%
发文量
56
审稿时长
11 weeks
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