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<p>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%, <i>n</i> = 963) found the platform easy to navigate, with 85% (<i>n</i> = 851) spending &lt;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.</p>

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

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2026年2月14日

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  • 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

摘要

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.