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Related Experiment Video

Updated: Jun 6, 2025

Novel Sequence Discovery by Subtractive Genomics

Novel Sequence Discovery by Subtractive Genomics

Published on: January 25, 2019

Newborn Genomic Sequencing Needs Confirmation but Not Repeating.

Bruce Bennetts^1,2, Gladys Ho^1,2, Sarah Shin¹

¹Sydney Genome Diagnostics, Western Sydney Genetics Program, Sydney Children's Hospitals Network, Westmead, NSW 2145, Australia.

Children (Basel, Switzerland)

|November 27, 2024

Summary

Newborn screening (NBS) can leverage genomic data for faster, cost-effective diagnostics. Using single-nucleotide variants (SNVs) transitions screening data to diagnostic-grade, speeding up confirmation and reducing family anxiety.

Keywords:

NBS diagnostic repeat testing

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Area of Science:

Genomics
Public Health
Biochemistry

Background:

Newborn screening (NBS) has evolved significantly, with genomic testing poised for major expansion.
Current NBS protocols involve repeat testing for confirmation, which is costly for high-expense genomic assays like whole-genome sequencing.

Purpose of the Study:

To investigate the transition of screening-grade genomic data from NBS into diagnostic-grade data.
To assess the utility of single-nucleotide variants (SNVs) for linking diagnostic specimens with NBS genomic data and provenance.

Main Methods:

Utilized a panel of single-nucleotide variants (SNVs) on a diagnostic specimen.
Developed a strategy to repurpose screening-grade NBS data for diagnostic purposes.

Main Results:

Demonstrated that screening-grade NBS data can be converted into diagnostic-grade data using SNVs.
The proposed strategy offers significant cost benefits for public health authorities.

Conclusions:

This approach facilitates the rapid use of NBS genomic data in acute care settings when genetic diagnoses are suspected.
The strategy promises to expedite the confirmation of positive NBS results, thereby reducing parental anxiety associated with delayed diagnostic testing.