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.
Authors
- Marc Clausen
- Jade Caruana (ORCID: https://orcid.org/0000-0003-0335-6224)
- Erin Tutty (ORCID: https://orcid.org/0000-0001-8426-8298)
- Sophie E. Bouffler (ORCID: https://orcid.org/0000-0002-4749-4883)
- Alison D. Archibald (ORCID: https://orcid.org/0000-0002-4496-8262)
- Nathasha Kugenthiran
- Lilian Downie
- Clara Gaff
- Sebastian Lunke
- Anaita Kanga-Parabia
Institutions
- 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)
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
Funders
- Children’s Hospital of Wisconsin Research Institute
- Murdoch Children's Research Institute
- Australian Government
- State Government of Victoria