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Updated: Sep 3, 2025
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Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
Published on: August 17, 2022
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Newborn Screening by Genomic Sequencing: Opportunities and Challenges
David Bick1, Arzoo Ahmed1, Dasha Deen1
1Genomics England Ltd., Dawson Hall, Charterhouse Square, Barbican, London EC1M 6BQ, UK.
International Journal of Neonatal Screening
|July 27, 2022
Summary
Next-generation sequencing offers a powerful new tool for newborn screening, examining all disease-causing genes at once. However, implementing this genomic sequencing technology at scale presents significant challenges and requires careful ethical and logistical planning.
Area of Science:
- Genomics
- Public Health
- Medical Diagnostics
Background:
- Newborn screening is a successful public health initiative for identifying treatable genetic disorders.
- Next-generation sequencing (NGS) represents a novel technological advancement with potential applications in newborn screening.
Purpose of the Study:
- To evaluate the feasibility of using next-generation sequencing in newborn screening programs.
- To assess NGS against the established Wilson and Jungner criteria for screening tests.
Main Methods:
- A commentary analyzing the application of the ten Wilson and Jungner criteria to genomic sequencing for newborn screening.
- Discussion of the advantages and challenges of implementing large-scale genomic screening.
Main Results:
- Genomic sequencing offers advantages in examining multiple disease-causing genes cost-effectively.
- Implementation faces challenges related to rare disease screening and genomics-specific issues.
Conclusions:
- While NGS holds promise for comprehensive newborn screening, its widespread adoption requires addressing ethical, communication, data management, legal, and social implications.
- Careful consideration of these factors is crucial for successful integration of genomic sequencing into public health programs.
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