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

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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Publication Details

Journal
npj Genomic Medicine
Published
2026-02-14
DOI
https://doi.org/10.1038/s41525-026-00551-6
Primary Topic
BRCA gene mutations in cancer
Type
article
Field-Weighted Citation Impact
0.00

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article

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

Marc Clausen, Jade Caruana, Erin Tutty, Sophie E. Bouffler et al.
npj Genomic Medicine
BRCA gene mutations in cancer
article

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

Marc Clausen, Jade Caruana, Erin Tutty, Sophie E. Bouffler, Alison D. Archibald, Nathasha Kugenthiran, Lilian Downie, Clara Gaff, Sebastian Lunke, Anaita Kanga-Parabia
article en

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.

npj Genomic MedicineVol. 11(1)
St. Michael's Hospital (CA), Royal Children's Hospital (AU), The University of Melbourne (AU), University of Toronto (CA), Walter and Eliza Hall Institute of Medical Research (AU), Victorian Clinical Genetics Services (AU), Zoos Victoria (AU), Murdoch Children's Research Institute (AU), Unity Health Toronto, Macquarie University (AU)
Children’s Hospital of Wisconsin Research Institute, Murdoch Children's Research Institute, Australian Government, State Government of Victoria
Openalex Percentile: Top 53%
BRCA gene mutations in cancer
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