Supporting decisions about genomic newborn screening at scale in the digital age: the BabyScreen+ study.

IF 5.3 2区医学 Q1 GENETICS & HEREDITY

NPJ Genomic Medicine Pub Date : 2026-02-14 DOI:10.1038/s41525-026-00551-6

Lilian Downie, Jade Caruana, Nathasha Kugenthiran, Anaita Kanga-Parabia, Erin Tutty, Yvonne Bombard, Marc Clausen, Sophie Bouffler, Clara Gaff, Alison D Archibald, Sebastian Lunke, Zornitza Stark

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引用次数: 0

Abstract

Digital platforms hold promise to scale implementation of population screening. We tailored the Genetics Adviser platform to provide education, decision support, consent, and result return in a genomic newborn screening (gNBS) study, BabyScreen + . Participants were surveyed and interviewed on the usability and value of Genetics Adviser. Genetics Adviser was used by 1048 participants and 1007 (96%) provided feedback. The majority (96%, n = 963) found the platform easy to navigate, with 85% (n = 851) spending <20 min online. Participants demonstrated excellent understanding, over 80% answering at least 6/8 knowledge questions correctly. Only 7% (12/173) of participant-initiated contacts with the study team were for genetic counselling. Interview participants valued the online process. We demonstrate the successful use of a digital platform for a genomic screening program. This model is streamlined, providing consistent, user-friendly education to support decision-making with minimal input from healthcare practitioners. Further evaluation in diverse populations will be essential for future use.

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数字时代新生儿基因组筛查的支持性决策：babycreen +研究。

数字平台有望大规模实施人口筛查。我们定制了遗传学顾问平台，为新生儿基因组筛查（gNBS）研究（babycreen +）提供教育、决策支持、同意和结果反馈。对参与者进行了关于遗传顾问的可用性和价值的调查和访谈。1048名参与者使用了遗传顾问，其中1007名（96%）提供了反馈。大多数人（96%,n = 963）认为该平台易于操作，85% （n = 851）的人会花钱

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来源期刊

NPJ Genomic Medicine Biochemistry, Genetics and Molecular Biology-Molecular Biology

CiteScore

9.40

自引率

1.90%

发文量

审稿时长

17 weeks

期刊介绍： npj Genomic Medicine is an international, peer-reviewed journal dedicated to publishing the most important scientific advances in all aspects of genomics and its application in the practice of medicine. The journal defines genomic medicine as "diagnosis, prognosis, prevention and/or treatment of disease and disorders of the mind and body, using approaches informed or enabled by knowledge of the genome and the molecules it encodes." Relevant and high-impact papers that encompass studies of individuals, families, or populations are considered for publication. An emphasis will include coupling detailed phenotype and genome sequencing information, both enabled by new technologies and informatics, to delineate the underlying aetiology of disease. Clinical recommendations and/or guidelines of how that data should be used in the clinical management of those patients in the study, and others, are also encouraged.