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A multi-dimensional framework for establishing and managing a genomic newborn screening program
Elena Schnabel-Besson1, Nicola Dikow2, Karla Alex3
1Heidelberg University, Medical Faculty of Heidelberg, Center for Pediatric and Adolescent Medicine, Department of Pediatrics I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg, Germany.
European Journal of Human Genetics : EJHG
|March 1, 2026
Summary
A new framework with 18 criteria was developed for genomic newborn screening (gNBS) programs. This framework addresses clinical, diagnostic, therapeutic, and management aspects for improved gNBS implementation.
Area of Science:
- Genomics
- Public Health
- Medical Ethics
Background:
- Newborn screening (NBS) is crucial for secondary prevention.
- Genomic sequencing offers potential for expanded NBS panels (genomic NBS or gNBS).
- Existing NBS selection principles (Wilson and Jungner, 1968) are outdated for gNBS.
Purpose of the Study:
- To establish a comprehensive, multi-dimensional framework for future genomic NBS programs.
- To define criteria for selecting target diseases and managing gNBS programs.
- To integrate ethical, legal, social, medical, and patient perspectives into gNBS criteria.
Main Methods:
- An interdisciplinary expert panel was convened.
- A multi-stage consensus process, similar to nominal group technique, was employed.
- Criteria were developed considering ethical, legal, social, medical, and patient viewpoints.
Main Results:
- 18 criteria for gNBS were developed and clustered into four subcategories.
- Subcategories include: Clinical, Diagnostic, Therapeutic-Interventional, and Program Management criteria.
- Criteria I-III focus on target disease selection; Criterion IV addresses program establishment and management.
Conclusions:
- The developed framework provides a balanced basis for revising NBS screening criteria.
- It supports the development of revised, internationally accepted consensus criteria for gNBS.
- This framework is essential for the responsible expansion of newborn screening through genomics.
