ArticleGenetics in medicine : official journal of the American College of Medical Genetics2020
The implementation of newborn screening for spinal muscular atrophy: the Australian experience.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 80 papers, 3 of them syntheses that pooled it.
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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.
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.
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Who cites it
80 citing papers in PubMed, 3 syntheses or guidelines pooled it, 164 citations in OpenAlex.
- Economic evidence on the cost-effectiveness of newborn screening for spinal muscular atrophy: a systematic review.European journal of pediatrics · 2025Pooled it
- Carrier Screening Programs for Cystic Fibrosis, Fragile X Syndrome, Hemoglobinopathies and Thalassemia, and Spinal Muscular Atrophy: A Health Technology Assessment.Ontario health technology assessment series · 2023Pooled it
- Systematic literature review of the economic burden of spinal muscular atrophy and economic evaluations of treatments.Orphanet journal of rare diseases · 2021Pooled it
- Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial.Nature medicine · 2022Trial
- Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial.Nature medicine · 2022Trial
- Newborn screening for spinal muscular atrophy: time is motor neuron.Nature reviews. Neurology · 2026Article
- Rapid resolution of variants of uncertain significance (VUS). A complementary role for zebrafish in the era of multi-million-dollar therapies.NPJ genomic medicine · 2026Article
- Expanding 5q-SMA Newborn Screening in Latin America: A Brazilian Model for National and Regional Implementation.International journal of neonatal screening · 2026Article
- The Dynamics of Neurofilament Light Chain in Spinal Muscular Atrophy.Annals of neurology · 2026Article
- Newborn Screening for Spinal Muscular Atrophy in the Republic of Moldova: A Feasibility Study and First Steps.International journal of neonatal screening · 2026Article
- Acceptability of newborn screening for spinal muscular atrophy: views of the UK public, screened families, health professionals and the SMA community.European journal of human genetics : EJHG · 2026Article
- Diagnostic Yield in Childhood-Onset Hearing Loss: A Meta-Analysis and Systematic Review.Life (Basel, Switzerland) · 2026Review
- SMN1 variants identified by false-positive SMA newborn screening tests: Therapeutic hurdles and functional and epidemiological solutions.American journal of human genetics · 2026Article
- Data-Related and Methodological Challenges in Assessing the Cost-Effectiveness of Traditional and Genomic Newborn Screening Programs.Applied health economics and health policy · 2026Review
- Clinical relevance of zebrafish for gene variants testing. Proof-of-principle with SMN1/SMA.EMBO molecular medicine · 2026Article
- Real-world data on spinal muscular atrophy in Spain: Insights from over 500 individuals in the CuidAME project.Journal of neuromuscular diseases · 2025Article
- Advancing personalized spinal muscular atrophy care: matching the right biomarker to the right patient at the right time.Journal of neurology · 2025Review
- Development of the "SMA NNE," a short neonatal neurological examination for newborns with spinal muscular atrophy.European journal of pediatrics · 2025Article
- Cost-Effectiveness of Newborn Screening for Spinal Muscular Atrophy in Australian Hospitals.Neurology and therapy · 2025Article
- An Explorative Qualitative Study of the Role of a Genetic Counsellor to Parents Receiving a Diagnosis After a Positive Newborn Bloodspot Screening.International journal of neonatal screening · 2025Article
20 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo evaluate the implementation of the first statewide newborn screening (NBS) program for spinal muscular atrophy (SMA) in Australia. Processes that hinder and support clinical development, translation, and sustainability of the first primary genetic screening program in Australia are appraised.
methodsThe study prospectively describes the course (timelines, health processes, and preliminary clinical outcomes) for SMA screen-positive newborns from 1 August 2018 to 31 July 2019 in New South Wales and Australian Capital Territory, Australia.
resultsIn the first year of the program, 103,903 newborns were screened. Ten newborns screened positive for SMA. Genetic confirmation of SMA occurred in 9/10 (90%) of infants. Clinical signs of SMA evolved in 4/9 (44%) within 4 weeks of life, heralded by hypotonia and weakness initially recognized in the neck. Median time to implementing a care plan (including commencement of disease-modifying therapies) was 26.5 days (16-37 days) from birth.
conclusionNBS is essential for early and equitable identification of patients with SMA. Expedient diagnosis and management are vital, as disease latency appears brief in some cases. NBS shows significant clinical utility to support early parental decision making, improve access to specialist neuromuscular expertise, and facilitate initiation of personalized therapeutic strategies.
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Registered trials
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.