Evidence map›Paper›PMID 41667506›Full record

ArticleNPJ genomic medicine2026

Semi-automated genomic newborn screening highlights complexities in reporting.

Ayesha Chowdhury, Shashikanth Marri, Lucy Anastasi, Alex Ashenden, Tomas Rozek, Jinghua Feng, Lucas DeJong, Rosalie Kenyon, Dominik Kaczorowski, Hung Nguyen and 14 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in NPJ genomic medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

  1. Review
  2. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

24 authors.

Ayesha ChowdhuryDepartment of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.
Shashikanth MarriDepartment of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.
Lucy AnastasiDepartment of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.
Alex AshendenSouth Australia Neonatal Screening Centre, Genetics and Molecular Pathology Directorate, SA Pathology at Women's & Children's Hospital, North Adelaide, Australia.
Tomas RozekSouth Australia Neonatal Screening Centre, Genetics and Molecular Pathology Directorate, SA Pathology at Women's & Children's Hospital, North Adelaide, Australia.
Jinghua FengDepartment of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.
Lucas DeJongDepartment of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.
Rosalie KenyonDepartment of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.
Dominik KaczorowskiDepartment of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.
Hung NguyenDepartment of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.
Khoa LamSouth Australia Neonatal Screening Centre, Genetics and Molecular Pathology Directorate, SA Pathology at Women's & Children's Hospital, North Adelaide, Australia.
Kirsty StallardPaediatric and Reproductive Genetics Unit, Women's and Children's Health Network, Adelaide, SA, Australia.
Tracy MerlinAdelaide Health Technology Assessment (AHTA), School of Public Health, The University of Adelaide, Adelaide, SA, 5000, Australia.
Enzo RanieriSydney Children's Hospital at Westmead, Sydney, NSW, Australia.
Sunita De SousaAdelaide Medical School, Faculty of Health and Medical Sciences, The University of Adelaide, Adelaide, SA, Australia.
Nicholas SmithAdelaide Medical School, Faculty of Health and Medical Sciences, The University of Adelaide, Adelaide, SA, Australia.
Abhi KulkarniDepartment of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.
Benjamin SaxonPaediatric Haematology and Oncology, Women's and Children's Health Network, Adelaide, SA, Australia.
Drago BratkovicMetabolic Clinic, Women's and Children's Health Network, Adelaide, SA, Australia.
Christopher BarnettAdelaide Medical School, Faculty of Health and Medical Sciences, The University of Adelaide, Adelaide, SA, Australia.
Carol Wai-Kwan SiuDepartment of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.
Hamish S ScottDepartment of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.
Jovanka KingDepartment of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.
Karin S KassahnDepartment of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia. karin.kassahn@sa.gov.au.

Funding

National Health and Medical Research Council 2017145
6 · The paper itself

Abstract

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.

Identifiers

PMID41667506
PMCPMC12960665

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.