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Realising the potential of genomic newborn screening
 
 
 

World leading targted genomic newborn screening  

Atlas uses targeted gene sequencing to enable high quality, high throughput, cost effective testing.

 
 

WHAT is ATLAS?

Technically validated,
high throughput, cost effective next generation newborn screening

Atlas can be incorporated into newborn screening programs today.

 

Heel prick bloodspot sample

Treatable childhood conditions

targeted genomic analysis & reporting software

Australian designed & developed

 
 
 
 
 
 

How does it work?

When designing a screening test, less is more.

Atlas uses targeted genomics to sidestep the challenges of whole genome/exome sequencing.

 
 
 

“An automated targeted gene sequencing laboratory workflow and purpose designed bioinformatics pipeline for newborn screening of genetic conditions can achieve high throughput testing, a clinically relevant turnaround time, and excellent analytical performance”

Feasibility of targeted next generation DNA sequencing for expanding population newborn screening
Clinical Chemistry, Volume 69, August 2023, Pages 890–900

 
 
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Development funded by

 
 
 

How is it different?

Targeted Genomic Newborn Screening

Atlas Targeted Newborn Screening Whole Genome/Exome Newborn Screening
Genes sequenced Customisable, from 1 to 132 > 20,000 untargeted
Cost Cost effective Higher than targeted sequencing
Analytical performance Sensitivty & specifcity >99% Sensitivty & specifcity not published
Throughput High Low
Potential for uncertainties and incidental/secondary findings Low, removed due to panel design High
Implementation Ready In research phase
 
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We thought it was a no-brainer. Preventive health is the way of the future, why wouldn’t you use the latest technology to screen your children?

Karyn Henner / Read Full Article