Objective:

To review the role of next-generation sequencing (NGS) in enhancing traditional newborn screening methods.

Approach:

Key Findings:

• NGS can detect disease-causing genetic variants directly, allowing for earlier identification of inherited conditions.
• Pilot programs show that genomic screening can identify actionable genetic diseases missed by standard screening.
• Most current programs utilize targeted gene panels, whole-exome sequencing, or whole-genome sequencing on dried blood spots.
• Interpretation of genetic variants of uncertain significance poses a diagnostic challenge.
• Rapid sequencing pipelines can now deliver results in a median of 7 days for critically ill infants.

Interpretation:

Genomic newborn screening is evolving from experimental stages to structured implementation, enhancing the detection of serious genetic diseases.

Limitations:

• Bioinformatics infrastructure and variant interpretation capacity are critical requirements for laboratory adoption.
• Turnaround times for genomic screening have historically been longer than traditional methods.

Conclusion:

The integration of biochemical and genomic assays is expected to improve early detection of serious genetic diseases.

Sources:

• Pediatric Investigation
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