Multiplexable, High-Throughput DNA-Based Technologies in Screening and Confirmatory Testing of Newborn Conditions: A...

Area of Science:

• Genomics and Bioinformatics
• Medical Diagnostics
• Public Health

Background:

• Newborn screening (NBS) programs are expanding due to technological advancements.
• Novel multiplexable, high-throughput DNA-based technologies are being explored for NBS.

Purpose of the Study:

• To identify DNA-based technologies used in published studies for newborn disorder screening or confirmatory testing.
• To review the appropriateness of these technologies within the NBS context.

Main Methods:

• A scoping review of literature from Medline, Embase, and Web of Science up to April 2024.
• Inclusion of 26 journal articles detailing technology use in NBS.
• Extraction of evidence on technology appropriateness for NBS.

Main Results:

• Five technologies were identified: whole-genome sequencing, whole-exome sequencing, targeted gene sequencing (TGS), quantitative polymerase chain reaction, and MassARRAY.
• Targeted gene sequencing (TGS) was the most frequently used technology (73.08%).
• Technical aspects suggest a combined approach (NGS + biochemical testing) is optimal.

Conclusions:

• Next-generation sequencing (NGS) and other DNA-based technologies show promise for enhancing NBS.
• A hybrid approach combining molecular and biochemical testing is recommended for optimal NBS.
• Limited evidence exists on the ethical and economic implications of these advanced NBS technologies.