[Main biological tools applied to newborn screening: Landscape and future perspectives]
1Service de biochimie et biologie moléculaire - Centre de biologie Est, Hospices Civils de Lyon, 69500 Bron, France - Commission de biologie - Centre national de coordination du dépistage néonatal, 69500 Bron, France.
Medecine Sciences : M/S
|May 18, 2021
Summary
Neonatal screening has evolved significantly over 50 years, expanding detectable diseases through technological advancements. Future innovations like next-generation sequencing and AI promise further progress, though ethical considerations remain.
Area of Science:
- Biochemistry
- Genetics
- Public Health
Background:
- Neonatal screening is a cornerstone of public health, evolving over five decades.
- Technological progress has continuously expanded the scope of detectable diseases in newborns.
Purpose of the Study:
- To review the evolution of biological techniques used in neonatal screening.
- To explore the future potential of new technologies in newborn screening.
Main Methods:
- Historical overview of neonatal screening methodologies.
- Discussion of advancements from the Guthrie test to mass spectrometry.
- Exploration of emerging technologies like next-generation sequencing and AI.
Main Results:
- The Guthrie test revolutionized neonatal blood sampling.
- Fluorimetry, immunoassay, and tandem mass spectrometry have increased disease detection.
- Next-generation sequencing and AI represent the next frontier in neonatal screening.
Conclusions:
- Neonatal screening has dramatically advanced due to technological innovation.
- Emerging technologies offer significant promise for expanding newborn screening capabilities.
- Ethical considerations are paramount with the advent of new screening technologies.
