High throughput, automated targeted genomic newborn screening
Atlas uses targeted gene sequencing to enable cost effective testing.
WHAT is ATLAS?
Technically validated next generation newborn screening
Atlas can be incorporated into population newborn screening programs today.
Heel prick bloodspot sample
Treatable childhood conditions
Purpose designed analysis & reporting software
Australian quality
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”
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 |
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