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Related Concept Videos

Genetic Screens02:46

Genetic Screens

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Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
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Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
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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
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Summary
This summary is machine-generated.

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.

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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  • Existing NBS selection principles (Wilson and Jungner, 1968) are outdated for gNBS.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.