Feasibility, acceptability and clinical outcomes of the BabyScreen+ genomic newborn screening study
Incorporating genomic sequencing into newborn screening will dramatically increase the number of detectable conditions but evidence is needed to guide policy. The prospective BabyScreen+ cohort study screened 1,000 newborns from the state of Victoria, Australia for variants in 605 genes associated with early-onset, severe, treatable conditions using whole-genome sequencing performed on dried blood spot cards. Sixteen infants (1.6%) were identified as having high-chance results. Of these, only one was detected by standard newborn screening. Average time to genomic newborn result was 13 days. Clinical impact ranged from instituting preventative measures or surveillance to active management, including transplantation. Twenty relatives received a diagnosis following cascade testing. Median parental decisional regret was low (median 0, interquartile range 0-10); >99% of participants thought genomic newborn screening should be available to all parents. Our study demonstrates the feasibility of clinically accredited genomic newborn screening, using a scalable model that is highly acceptable to parents. Future research is needed to address issues of scalability and equity.
Authors
- Crystle Lee
- Sebastian Hollizeck (ORCID: https://orcid.org/0000-0002-9504-3497)
- Ronda F. Greaves (ORCID: https://orcid.org/0000-0001-7823-8797)
- Jessica R. Riseley
- Paul De Fazio
- Marc Clausen
- Christopher Gyngell (ORCID: https://orcid.org/0000-0002-1340-3947)
- Sebastian Lunke (ORCID: https://orcid.org/0000-0002-7168-0723)
- Anthony Marty
- Anaita Kanga‐Parabia (ORCID: https://orcid.org/0000-0003-4656-9246)
- Ee Ming Wong (ORCID: https://orcid.org/0000-0002-7288-7865)
- Fiona Lynch (ORCID: https://orcid.org/0000-0002-6386-6739)
- Ilias Goranitis (ORCID: https://orcid.org/0000-0001-7946-8324)
- Jade Caruana (ORCID: https://orcid.org/0000-0003-0335-6224)
- Yvonne Bombard (ORCID: https://orcid.org/0000-0002-9516-4539)
- Lilian Downie (ORCID: https://orcid.org/0000-0003-3914-5592)
- Simon Sadedin (ORCID: https://orcid.org/0000-0002-2144-7894)
- Clara Gaff (ORCID: https://orcid.org/0000-0003-0160-4159)
- John Christodoulou (ORCID: https://orcid.org/0000-0002-8431-0641)
- Melanie A. Marty (ORCID: https://orcid.org/0000-0003-2797-5599)
- Erin Tutty (ORCID: https://orcid.org/0000-0001-8426-8298)
- Sophie E. Bouffler (ORCID: https://orcid.org/0000-0002-4749-4883)
- Meaghan Wall (ORCID: https://orcid.org/0000-0001-9711-0705)
- Zornitza Stark (ORCID: https://orcid.org/0000-0001-8640-1371)
- Alison D. Archibald (ORCID: https://orcid.org/0000-0002-4496-8262)
- David J. Amor (ORCID: https://orcid.org/0000-0001-7191-8511)
- Alison Yeung (ORCID: https://orcid.org/0000-0002-5793-6016)
- Stephanie Best (ORCID: https://orcid.org/0000-0002-1107-8976)
- Danya F. Vears (ORCID: https://orcid.org/0000-0002-6290-545X)
- Katrina L. Scarff (ORCID: https://orcid.org/0000-0002-5195-9727)
- Candice McGregor
- Monica Torres (ORCID: https://orcid.org/0000-0002-4115-5848)
- Nitzan Lang
- Nathasha Kugenthiran
- Wendy Fagan
- Ching Vang
Institutions
- Deakin University (AU)
- The University of Melbourne (AU)
- University of Toronto (CA)
- Walter and Eliza Hall Institute of Medical Research (AU)
- Ontario Genomics (CA)
- Victorian Clinical Genetics Services (AU)
- Zoos Victoria (AU)
- Murdoch Children's Research Institute (AU)
- Melbourne Genomics Health Alliance (AU)
Publication Details
- Journal
- Nature Medicine
- Published
- 2025-10-09
- DOI
- https://doi.org/10.1038/s41591-025-03986-z
- Citations
- 8
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 14.54
Funders
- Children's Hospital Foundation
- Australian Government
- State Government of Victoria
- Medical Research Council
- National Health and Medical Research Council