ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019
Including ELSI research questions in newborn screening pilot studies.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 2 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
22 citing papers in PubMed, 2 syntheses or guidelines pooled it, 28 citations in OpenAlex.
- Preferences, attitudes and views regarding genetic newborn screening (gNBS) for rare diseases: a systematic review of the literature and synthesis from 2009 to 2022.Orphanet journal of rare diseases · 2026Pooled it
- Barriers and Facilitators for Population Genetic Screening in Healthy Populations: A Systematic Review.Frontiers in genetics · 2022Pooled it
- Newborn screening and biobanking for preventable genetic disorders in Mongolia: A developing country perspective.Regenerative therapy · 2026Review
- A Multi-Stakeholder Perspective on Integrating Genomic Sequencing into Newborn Screening: An Interview Study.International journal of neonatal screening · 2026Article
- Article
- Charting the Ethical Frontier in Newborn Screening Research: Insights from the NBSTRN ELSI Researcher Needs Survey.International journal of neonatal screening · 2024Article
- Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy.International journal of neonatal screening · 2024Article
- ScreenPlus: A comprehensive, multi-disorder newborn screening program.Molecular genetics and metabolism reports · 2024Article
- NBSTRN Tools to Advance Newborn Screening Research and Support Newborn Screening Stakeholders.International journal of neonatal screening · 2023Article
- Is Our Newborn Screening Working Well? A Literature Review of Quality Requirements for Newborn Blood Spot Screening (NBS) Infrastructure and Procedures.International journal of neonatal screening · 2023Review
- Genomic-Based Newborn Screening for Inborn Errors of Immunity: Practical and Ethical Considerations.International journal of neonatal screening · 2023Article
- When is the best time to screen and evaluate for treatable genetic disorders?: A lifespan perspective.American journal of medical genetics. Part C, Seminars in medical genetics · 2023Review
- The Progress and Future of US Newborn Screening.International journal of neonatal screening · 2022Review
- Newborn screening research sponsored by the NIH: From diagnostic paradigms to precision therapeutics.American journal of medical genetics. Part C, Seminars in medical genetics · 2022Article
- Newborn screening for neurodevelopmental diseases: Are we there yet?American journal of medical genetics. Part C, Seminars in medical genetics · 2022Article
- Developing a National Newborn Genomes Program: An Approach Driven by Ethics, Engagement and Co-design.Frontiers in genetics · 2022Article
- Brief Report: Delayed Diagnosis of Treatable Inborn Errors of Metabolism in Children with Autism and Other Neurodevelopmental Disorders.Journal of autism and developmental disorders · 2021Article
- Ethical Issues Surrounding Newborn Screening.International journal of neonatal screening · 2021Article
- Parents' Perspectives and Societal Acceptance of Implementation of Newborn Screening for SCID in the Netherlands.Journal of clinical immunology · 2021Article
- Expanding Neonatal Bloodspot Screening: A Multi-Stakeholder Perspective.Frontiers in pediatrics · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
19 authors at 15 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe evidence review processes for adding new conditions to state newborn screening (NBS) panels rely on data from pilot studies aimed at assessing the potential benefits and harms of screening. However, the consideration of ethical, legal, and social implications (ELSI) of screening within this research has been limited. This paper outlines important ELSI issues related to newborn screening policy and practices as a resource to help researchers integrate ELSI into NBS pilot studies. APPROACH: Members of the Bioethics and Legal Workgroup for the Newborn Screening Translational Research Network facilitated a series of professional and public discussions aimed at engaging NBS stakeholders to identify important existing and emerging ELSI challenges accompanying NBS.
resultsThrough these engagement activities, we identified a set of key ELSI questions related to (1) the types of results parents may receive through newborn screening and (2) the initiation and implementation of NBS for a condition within the NBS system.
conclusionIntegrating ELSI questions into pilot studies will help NBS programs to better understand the potential impact of screening for a new condition on newborns and families, and make crucial policy decisions aimed at maximized benefits and mitigating the potential negative medical or social implications of screening.
Indexed as
Identifiers
What 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.