Evidence map›Paper›PMID 39051398›Full record

ReviewInternational journal of neonatal screening2024

The Multi-Omic Approach to Newborn Screening: Opportunities and Challenges.

Alex J Ashenden, Ayesha Chowdhury, Lucy T Anastasi, Khoa Lam, Tomas Rozek, Enzo Ranieri, Carol Wai-Kwan Siu, Jovanka King, Emilie Mas, Karin S Kassahn

Abstract readReview
In one paragraph

Review in International journal of neonatal screening, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed, 1 pooled it
–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

12 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Article
  3. Review
  4. Review
  5. Article
  6. Article
  7. Review
  8. Review
  9. Genomic Screening Consortium for Australian Newborns (GenSCAN).Journal of paediatrics and child health · 2025
    Review
  10. Review
  11. Review
  12. 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

10 authors.

Alex J AshendenDepartment of Biochemical Genetics, SA Pathology, Women's and Children's Hospital, Adelaide, SA 5006, Australia.ORCID 0000-0001-7641-0776
Ayesha ChowdhuryDepartment of Molecular Pathology, SA Pathology, Adelaide, SA 5000, Australia.
Lucy T AnastasiDepartment of Molecular Pathology, SA Pathology, Adelaide, SA 5000, Australia.ORCID 0000-0002-7716-4252
Khoa LamDepartment of Biochemical Genetics, SA Pathology, Women's and Children's Hospital, Adelaide, SA 5006, Australia.ORCID 0000-0002-0078-1703
Tomas RozekDepartment of Biochemical Genetics, SA Pathology, Women's and Children's Hospital, Adelaide, SA 5006, Australia.
Enzo RanieriDepartment of Biochemical Genetics, SA Pathology, Women's and Children's Hospital, Adelaide, SA 5006, Australia.
Carol Wai-Kwan SiuDepartment of Biochemical Genetics, SA Pathology, Women's and Children's Hospital, Adelaide, SA 5006, Australia.ORCID 0009-0005-5044-507X
Jovanka KingImmunology Directorate, SA Pathology, Adelaide, SA 5000, Australia.ORCID 0000-0002-6783-4830
Emilie MasDepartment of Biochemical Genetics, SA Pathology, Women's and Children's Hospital, Adelaide, SA 5006, Australia.
Karin S KassahnDepartment of Molecular Pathology, SA Pathology, Adelaide, SA 5000, Australia.

Funding

National Health and Medical Research Fund Genomics Health Futures Mission MRFF 2017145
6 · The paper itself

Abstract

Newborn screening programs have seen significant evolution since their initial implementation more than 60 years ago, with the primary goal of detecting treatable conditions within the earliest possible timeframe to ensure the optimal treatment and outcomes for the newborn. New technologies have driven the expansion of screening programs to cover additional conditions. In the current era, the breadth of screened conditions could be further expanded by integrating omic technologies such as untargeted metabolomics and genomics. Genomic screening could offer opportunities for lifelong care beyond the newborn period. For genomic newborn screening to be effective and ready for routine adoption, it must overcome barriers such as implementation cost, public acceptability, and scalability. Metabolomics approaches, on the other hand, can offer insight into disease phenotypes and could be used to identify known and novel biomarkers of disease. Given recent advances in metabolomic technologies, alongside advances in genomics including whole-genome sequencing, the combination of complementary multi-omic approaches may provide an exciting opportunity to leverage the best of both approaches and overcome their respective limitations. These techniques are described, along with the current outlook on multi-omic-based NBS research.

Indexed as

dried bloodspotgenomic screeningmass spectrometrymetabolomicsmulti-omicsnewborn screeningpublic acceptabilitywhole-genome sequencing

Identifiers

PMID39051398
PMCPMC11270328

What Socratic holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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 Socratic graph.