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NPJ genomic medicine · 2026

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

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

Аннотация

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.