ReviewJournal of inherited metabolic disease2011
Newborn screening: how are we travelling, and where should we be going?
Review in Journal of inherited metabolic disease, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis 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
11 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Economic evidence on the cost-effectiveness of newborn screening for spinal muscular atrophy: a systematic review.European journal of pediatrics · 2025Pooled it
- Tandem mass spectrometry in screening for inborn errors of metabolism: comprehensive bibliometric analysis.Frontiers in pediatrics · 2025Review
- A framework for evaluating long-term impact of newborn screening.European journal of human genetics : EJHG · 2024Article
- Successful Implementation of Expanded Newborn Screening in the Philippines Using Tandem Mass Spectrometry.International journal of neonatal screening · 2022Article
- Carnitine longitudinal pattern in preterm infants <1800 g body weight: a case-control study.Pediatric research · 2019Article
- Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program.European journal of human genetics : EJHG · 2019Article
- Management and diagnosis of mitochondrial fatty acid oxidation disorders: focus on very-long-chain acyl-CoA dehydrogenase deficiency.Journal of human genetics · 2019Review
- Expanded Newborn Screening Using Tandem Mass Spectrometry: Seven Years of Experience in Eastern Sicily.International journal of neonatal screening · 2018Article
- Long-term outcome of expanded newborn screening at Boston children's hospital: benefits and challenges in defining true disease.Journal of inherited metabolic disease · 2017Article
- Applying public health screening criteria: how does universal newborn screening compare to universal tumor screening for Lynch syndrome in adults with colorectal cancer?Journal of genetic counseling · 2015Article
- Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 2. From screening laboratory results to treatment, follow-up and quality assurance.Journal of inherited metabolic disease · 2012Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In general, newborn screening is now a highly successful enterprise. The introduction of tandem mass spectrometry in the mid-1990s changed the pace of screening, raising its profile and increasing its relevance to a wider range of health professionals. The clinical effectiveness is not in doubt for some conditions, but is lacking for others. Evaluation has major difficulties for the rarer disorders and has been sadly neglected. Partly because clinical effectiveness has not been enthusiastically addressed, but also because of undue caution on the part of regulators, who often seem to ignore available evidence, there are huge differences in the adoption of screening programmes in different jurisdictions. New treatments, especially mutation-specific treatments, and technological advances in diagnostic testing are being rapidly developed, and this will further change the face of newborn screening and probably magnify these differences. The challenges will be considerable, especially with the increasing availability of DNA testing at modest cost. It is likely that there will be pressure to change the aims of newborn screening to encompass "personalised medicine". We must all prepare in a thoughtful way for these future challenges.
Indexed as
Identifiers
21499716What OpenQuestion holds
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.