ArticleInternational journal of neonatal screening2022
Modelling the Cost-Effectiveness and Budget Impact of a Newborn Screening Program for Spinal Muscular Atrophy and Severe Combined Immunodeficiency.
Article in International journal of neonatal screening, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 3 of them syntheses that pooled 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.
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.
Who cites it
26 citing papers in PubMed, 3 syntheses or guidelines pooled it, 26 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
- Systematic review for economic evaluations on newborn screening for spinal muscular atrophy.Journal of neuromuscular diseases · 2025Pooled it
- Spinal Muscular Atrophy Treatment in Patients Identified by Newborn Screening-A Systematic Review.Genes · 2023Pooled it
- Newborn screening for spinal muscular atrophy: time is motor neuron.Nature reviews. Neurology · 2026Article
- Five-year experience of a combined newborn screening for spinal muscular atrophy and severe combined immunodeficiency in Liguria, Italy.European journal of human genetics : EJHG · 2026Article
- Development of Clinical Pathways for Early Diagnosis and Management of SCID, SMA, and XLA Through Newborn Screening in Malaysia.International journal of neonatal screening · 2026Review
- Trends in the Timeliness of Spinal Muscular Atrophy Detection in US Infants, 2016-2023.International journal of neonatal screening · 2026Article
- Neonatal screening for spinal muscular atrophy: Report of a multicenter study in Brazil.Genetics and molecular biology · 2026Article
- Article
- The Path to Screening US Newborns for Severe Combined Immunodeficiency, 1968-2018: A Narrative Review of a Successful Biomedical Research and Public Health Partnership.Public health genomics · 2026Review
- Cost-effectiveness of newborn screening for severe combined immunodeficiency: a systematic review.Clinical and experimental pediatrics · 2025Article
- Pioneering SMA therapies for all types: survival gains, cost dynamics, and performance-based agreements.Cost effectiveness and resource allocation : C/E · 2025Article
- Cost-Effectiveness of Newborn Screening for Spinal Muscular Atrophy in Australian Hospitals.Neurology and therapy · 2025Article
- Neonatal Screening for Spinal Muscular Atrophy and Severe T- and B-Cell Lymphopenias in Andalusia: A Prospective Study.International journal of neonatal screening · 2025Article
- Why should a 5q spinal muscular atrophy neonatal screening program be started?Arquivos de neuro-psiquiatria · 2024Review
- Counting Conditions on Newborn Bloodspot Screening Panels in Australia and New Zealand.International journal of neonatal screening · 2024Article
- Review
- Strengthening health systems for access to gene therapy in rare genetic disorders.Molecular therapy. Methods & clinical development · 2024Article
- Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020-2023).International journal of neonatal screening · 2024Review
- Paving the way in implementation of SCID newborn screening in developing nations: feasibility study and strategies to move forward in Malaysia.Frontiers in immunology · 2024Article
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
Abstract
Spinal muscular atrophy (SMA) and severe combined immunodeficiency (SCID) are rare, inherited genetic disorders with severe mortality and morbidity. The benefits of early diagnosis and initiation of treatment are now increasingly recognized, with the most benefits in patients treated prior to symptom onset. The aim of the economic evaluation was to investigate the costs and outcomes associated with the introduction of universal newborn screening (NBS) for SCID and SMA, by generating measures of cost-effectiveness and budget impact. A stepwise approach to the cost-effectiveness analyses by decision analytical models nested with Markov simulations for SMA and SCID were conducted from the government perspective. Over a 60-year time horizon, screening every newborn in the population and treating diagnosed SCID by early hematopoietic stem cell transplantation and SMA by gene therapy, would result in 95 QALYs gained per 100,000 newborns, and result in cost savings of USD 8.6 million. Sensitivity analysis indicates 97% of simulated results are considered cost-effective against commonly used willingness-to-pay thresholds. The introduction of combined NBS for SCID and SMA is good value for money from the long-term clinical and economic perspectives, representing a cost saving to governments in the long-term, as well as improving and saving lives.
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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.