Okamura Marina, Minchin Emma, Mazariego Carolyn, Hersch Jolyn, Taylor Natalie, Juraskova Ilona
School of Psychology, The University of Sydney, Sydney, NSW 2006, Australia.
Implementation to Impact (i2i), School of Population Health, University of New South Wales, Sydney, NSW 2052, Australia.
Int J Neonatal Screen. 2025 May 28;11(2):41. doi: 10.3390/ijns11020041.
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.
新生儿血斑筛查（NBS）显著推动了早期疾病检测，预防了严重残疾和婴儿死亡。将基因组技术整合到NBS（gNBS）中的预期前景有望实现更早的诊断和针对性治疗。然而，这也带来了复杂性，需要加强知情同意程序。动态同意平台（DCP）凭借其分层信息和可修改的偏好，可能满足这一快速演变的需求。这项定性研究探讨了NBS和基因组利益相关者对于（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在基因组学方面的可接受性、可行性和实用性的看法。16名参与NBS/基因组同意工作的关键利益相关者（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）完成了一次半结构化访谈。主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，以及（iv）动态同意平台。参与者强调了修改同意程序的时间安排，并为临床医生规范同意培训。一个全国标准化的DCP被认为对于应对gNBS中的同意挑战很有价值；然而，对于弱势群体在线资源的可及性以及将DCP整合到医疗系统中也提出了担忧。讨论了在这个不断发展的领域中未来研究和临床意义的建议。
