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Alexander D. Rowe

Alexander D. Rowe

Head of Bioinformatics and Biobank, Norwegian Newborn Screening Program , Department of Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Rikshospitalet, Norway

Alex has been part of the team at Newborn Screening (NBS) in Norway since 2015, running the bioinformatics team and heavily involved in multimodal data interpretation and operationalisation, also as part of the core development team for the Mayo Clinic’s CLIR tools for NBS. Over 10 years ago we had already adopted NGS into our routine NBS program and were using sequencing to make an enormous improvement to screening performance for Cystic fibrosis by removing false positives and reducing false negatives.

This experience enabled us to expand to rapid genomic confirmation for the majority of our 39 screening disorders, but Cystic fibrosis is still the model disorder we learn from when it comes to both the complexity of phenotype-genotype correlation and interpreting the continual stream of new variants we encounter as we sequence CFTR in over 5% of our newborn population annually.

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