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Related Concept Videos

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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.
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FISH for Pre-implantation Genetic Diagnosis
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A Children's Rights Framework for Genomic Medicine: Newborn Screening as a Use Case.

Luca Brunelli1, Kee Chan2, James Tabery3

  • 1Division of Neonatology, Department of Pediatrics, Spencer Fox Eccles School of Medicine, University of Utah.

Medical Research Archives
|September 2, 2024
PubMed
Summary

Newborn screening (NBS) in the US celebrates 60 years, aiming to improve infant health outcomes globally. Advances in genomics offer a chance to further enhance pediatric care and uphold children's rights to health.

Keywords:
children’s rights, law, policy, and human rightsethicsgenomic medicinehealth outcomesprecision medicinesocial determinants of health

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Area of Science:

  • Public Health
  • Genetics
  • Pediatrics

Background:

  • The 60th anniversary of newborn screening (NBS) in the US highlights its crucial role in early disease detection and intervention.
  • Global NBS aims for equitable diagnosis and management, improving outcomes for all infants.
  • Technological and genomic advancements are rapidly expanding the scope of NBS.

Purpose of the Study:

  • To examine the intersection of newborn screening, children's rights, and healthcare equity.
  • To highlight how NBS advances the rights of children, particularly those with disabilities.
  • To propose genomics in NBS as a model for upholding child rights.

Main Methods:

  • Review of the historical evolution of children's rights and healthcare access.
  • Analysis of case studies on access and equity challenges in NBS.
  • Examination of the current NBS system's alignment with child rights principles.

Main Results:

  • Newborn screening has historically advanced children's right to healthcare.
  • Examples illustrate disparities in NBS access and equity, potentially limiting optimal outcomes.
  • Genomic integration in NBS presents opportunities to strengthen child rights.

Conclusions:

  • Newborn screening is a vital public health initiative that supports children's rights.
  • Addressing access and equity issues in NBS is essential for realizing universal child health benefits.
  • Incorporating genomics into NBS can further ensure every child's right to the highest attainable standard of health.