NPJ genomic medicine · 2026
Semi-automated genomic newborn screening highlights complexities in reporting.
СтатьяНазвание и аннотация: Перевод в очереди
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Chowdhury Ayesha, Marri Shashikanth, Anastasi Lucy, Ashenden Alex, Rozek Tomas, Feng Jinghua, DeJong Lucas, Kenyon Rosalie, Kaczorowski Dominik, Nguyen Hung, Lam Khoa, Stallard Kirsty, Merlin Tracy, Ranieri Enzo, De Sousa Sunita, Smith Nicholas, Kulkarni Abhi, Saxon Benjamin, Bratkovic Drago, Barnett Christopher, Siu Carol Wai-Kwan, Scott Hamish S, King Jovanka, Kassahn Karin S
Аннотация
Newborn screening programs are instrumental in the early detection of treatable conditions in the first days of life. By integrating genomic approaches, there is potential to expand the range of conditions included in these programs. As part of a research study, NewbornsInSA, we validated a genomic newborn screening workflow. Analysis of whole-genome sequencing data was restricted to a virtual panel of 613 genes, selected through engagement with local clinical teams. We assessed the workflow's performance using retrospective samples with known variant status. To reduce manual curation time, bioinformatics scripts were developed to auto-classify cases into those with no findings and those requiring manual review. We report on early findings from applying this workflow to a prospectively recruited cohort in which five reportable findings have been made to date. We discuss reporting challenges encountered in genes associated with multiple conditions, with incomplete penetrance, or variants associated with only mild phenotypes.