High throughput targeted genomic newborn screening
Atlas automates the entire targeted gene sequencing workflow from laboratory to reporting.
WHAT is ATLAS?
Validated, first tier next generation DNA sequencing 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?
Newborn screening requires high throughput, cost effective testing that meets Junger and Wilson criteria
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, targeted to treatable condtions only | > 20,000 untargeted |
| Cost | Cost effective | Higher than targeted sequencing |
| Analytical performance | Sensitivty & specificity >99% | Sensitivty & specificity not published |
| Turnaround time | 7-10 days | > 4 weeks |
| Uncertainties and incidental/secondary findings | Low, due to panel design | High, requiring change to exisitng consent processes |
| Implementation into exisitng programs | 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