ArticleMolecular genetics and metabolism2016
A framework for assessing outcomes from newborn screening: on the road to measuring its promise.
Article in Molecular genetics and metabolism, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
What it found
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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
19 citing papers in PubMed, 30 citations in OpenAlex.
- An evaluation of U.S. federal investments in newborn screening: successes, gaps, and future directions.Frontiers in public health · 2026Article
- A Qualitative Study on Engaged Families' Experiences with Long-Term Follow-Up Care in the Colorado/Wyoming Newborn Screening System.International journal of neonatal screening · 2024Article
- Discordant Prenatal Cell-Free DNA Screening vs. Diagnostic Results of Sex Chromosome Aneuploidies: Implications for Newborn Screening and Genetic Counseling.International journal of neonatal screening · 2024Article
- Charting the Course: Towards a Comprehensive Newborn Screening Program in India.International journal of neonatal screening · 2024Article
- Defining the Minimal Long-Term Follow-Up Data Elements for Newborn Screening.International journal of neonatal screening · 2024Article
- Advancing Newborn Screening Long-Term Follow-Up: Integration ofInternational journal of neonatal screening · 2024Article
- A framework for evaluating long-term impact of newborn screening.European journal of human genetics : EJHG · 2024Article
- Dispatches from Biotech beginning BeginNGS: Rapid newborn genome sequencing to end the diagnostic and therapeutic odyssey.American journal of medical genetics. Part C, Seminars in medical genetics · 2022Article
- Opportunities and challenges for newborn screening and early diagnosis of rare diseases in Latin America.Frontiers in genetics · 2022Review
- Following Patients With Inborn Errors of Metabolism: What Do We Value and How Do We Know?Pediatrics · 2021Article
- The Longitudinal Pediatric Data Resource: Facilitating Longitudinal Collection of Health Information to Inform Clinical Care and Guide Newborn Screening Efforts.International journal of neonatal screening · 2021Article
- Current Practices for U.S. Newborn Screening of Pompe Disease and MPSI.International journal of neonatal screening · 2020Article
- Two novel mutations in DNAJC12 identified by whole-exome sequencing in a patient with mild hyperphenylalaninemia.Molecular genetics & genomic medicine · 2020Article
- Outcomes in pediatric studies of medium-chain acyl-coA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU): a review.Orphanet journal of rare diseases · 2020Review
- Early access to biological neonatal screening: coordination among child care action programs.Revista latino-americana de enfermagem · 2020Article
- Inequities in newborn screening: Race and the role of medicaidSSM - population health · 2019Article
- Early Check: translational science at the intersection of public health and newborn screening.BMC pediatrics · 2019Observational
- Foundation of the Newborn Screening Translational Research Network and its tools for research.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Review
- Follow-up status during the first 5 years of life for metabolic disorders on the federal Recommended Uniform Screening Panel.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
Corrections and comments
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Authors and funding
20 authors at 17 institutions in 1 country.
Funding
Abstract
unlabelledNewborn screening (NBS) is intended to identify congenital conditions prior to the onset of symptoms in order to provide early intervention that leads to improved outcomes. NBS is a public health success, providing reduction in mortality and improved developmental outcomes for screened conditions. However, it is less clear to what extent newborn screening achieves the long-term goals relating to improved health, growth, development and function. We propose a framework for assessing outcomes for the health and well-being of children identified through NBS programs. The framework proposed here, and this manuscript, were approved for publication by the Secretary of Health and Human Services' Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC). This framework can be applied to each screened condition within the Recommended Uniform Screening Panel (RUSP), recognizing that the data elements and measures will vary by condition. As an example, we applied the framework to sickle cell disease and phenylketonuria (PKU), two diverse conditions with different outcome measures and potential sources of data. Widespread and consistent application of this framework across state NBS and child health systems is envisioned as useful to standardize approaches to assessment of outcomes and for continuous improvement of the NBS and child health systems. SIGNIFICANCE: Successful interventions for newborn screening conditions have been a driving force for public health newborn screening for over fifty years. Organizing interventions and outcome measures into a standard framework to systematically assess outcomes has not yet come into practice. This paper presents a customizable outcomes framework for organizing measures for newborn screening condition-specific health outcomes, and an approach to identifying sources and challenges to populating those measures.
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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.