ArticleMedizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V2022
From newborn screening to genomic medicine: challenges and suggestions on how to incorporate genomic newborn screening in public health programs.
Article in Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed.
- Parental reactions to and preferences for genomic newborn screening in Germany: findings from a scenario-based survey experiment.European journal of human genetics : EJHG · 2026Article
- Parental and public views on genomic newborn screening: a systematic review.European journal of human genetics : EJHG · 2026Review
- A multi-dimensional framework for establishing and managing a genomic newborn screening program.European journal of human genetics : EJHG · 2026Article
- Next-generation sequencing in newborn screening: Current status, challenges, and future perspectives.Pediatric investigation · 2026Review
- Integrating the Genomic Revolution into Newborn Screening: Current Challenges and Future Perspectives.Pediatric reports · 2026Review
- "The ability to get ahead": Australian parent perspectives on genomics in newborn screening and considerations for potential models of care.European journal of human genetics : EJHG · 2025Article
- "Jumping too far ahead": Australian healthcare professional, scientist, and policy maker perspectives on using genomics in newborn screening.European journal of human genetics : EJHG · 2025Article
- Parents' perspectives on expanded newborn genomic screening in Abu Dhabi, United Arab Emirates.Human genomics · 2025Article
- Tension between the need for certainty and numerous uncertainties-A focus group study on various perspectives on a potential genomic newborn screening program in Germany.Journal of genetic counseling · 2025Article
- Key informant perspectives on implementing genomic newborn screening: a qualitative study guided by the Action, Actor, Context, Target, Time framework.European journal of human genetics : EJHG · 2024Article
- The Multi-Omic Approach to Newborn Screening: Opportunities and Challenges.International journal of neonatal screening · 2024Review
- Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020-2023).International journal of neonatal screening · 2024Review
- [Genomic newborn screening-research approaches, challenges, and opportunities].Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz · 2023Review
- 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
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Newborn screening (NBS) programs are considered among the most effective and efficient measures of secondary prevention in medicine. In individuals with medical conditions, genomic sequencing has become available in routine healthcare, and results from exome or genome sequencing may help to guide treatment decisions. Genomic sequencing in healthy or asymptomatic newborns (gNBS) is feasible and reveals clinically relevant disorders that are not detectable by biochemical analyses alone. However, the implementation of genomic sequencing in population-based screening programs comes with technological, clinical, ethical, and psychological issues, as well as economic and legal topics. Here, we address and discuss the most important questions to be considered when implementing gNBS, such as "which categories of results should be reported" or "which is the best time to return results". We also offer ideas on how to balance expected benefits against possible harms to children and their families.
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Registered trials
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