Challenges of using next generation sequencing in newborn screening

Area of Science:

• Medical Genetics
• Genomics
• Public Health

Background:

• Whole-genome and whole-exome sequencing are increasingly used in clinical practice.
• Metabolic newborn screening identifies treatable conditions in newborns using blood metabolite levels.
• Decreasing sequencing costs prompt consideration of replacing traditional newborn screening with genomic approaches.

Purpose of the Study:

• To evaluate the feasibility of replacing metabolic newborn screening with whole-genome or whole-exome sequencing.
• To discuss the medical, psychological, ethical, and economic implications of widespread newborn genome sequencing.

Main Methods:

• Literature review and ethical analysis.
• Discussion of current newborn screening practices and emerging genomic technologies.

Main Results:

• Newborn genome sequencing can identify more disorders than current screening methods.
• Significant ethical, medical, psychological, and economic challenges hinder widespread adoption.

Conclusions:

• Widespread implementation of newborn genome sequencing as a replacement for metabolic screening is currently premature.
• Further research and ethical deliberation are required before generalizing genomic screening practices for newborns.