Integrated, turnkey software for inherited disease testing
Customisable modules across the entire workflow from sample processing, data analysis and reporting.
ATLAS for genomic newborn screening
A single software solution for high throughput newborn screening
Atlas can be incorporated into population newborn screening programs today.
Heel prick bloodspot sample
Treatable childhood conditions
analysis & reporting software
Australian quality
How does atlas support genomic newborn screening ?
Newborn screening requires high throughput, cost effective testing that meets Junger and Wilson criteria
Atlas supports targeted genomics and can overcome some 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?
Types of Genomic Newborn Screening
| 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