Transforming fragmented NGS workflows into a streamlined genomics platform
LIMS, automation workflow control, bioinformatics and clinical reporting in a single software solution
genomic newborn screening
Atlas enables high throughput genomic newborn screening
Compatible with all DNA extraction, library preparation, automation and short read sequencing instruments
Works ACROSS any DNA extraction instrument
suitable for any library preparation and automation workflow
integrated secondary analysis, tertiary analysis & reporting
piloted by the Queensland population NBS program
How does atlas enable genomic newborn screening?
Newborn screening requires high throughput, cost-effective testing for treatable conditions
Atlas supports targeted genomics to overcome challenges of whole genome/exome sequencing.
“An automated targeted gene sequencing laboratory workflow and purpose designed bioinformatics pipeline for newborn screening can achieve high throughput testing, a clinically relevant turnaround time, and excellent analytical performance”
Development funded by
How is targeted genomics different?
Types of Genomic Newborn Screening
| Targeted | Whole Genome/Exome | |
|---|---|---|
| Genes sequenced | Customisable, limited to treatable condtions | > 20,000 genes, including untreatable condtions |
| Genes analysed | Limited to treatable conditions | Includes actionable conditions, >99% of genes sequenced are ultimately not analysed |
| Cost | Cost effective | No published data on cost, higher than targeted |
| Turnaround time for a batch of 1536 samples | 7-10 days | No published data on throughput |
| Uncertainties and incidental/secondary findings | Low, due to test being limited to treatable conditions | High, requires changes to current NBS consent processes |
| Analytical performance | Sensitivity & specificty > 99% | No published data on accuracy |
| Implementation into NBS | Queensland, Australia | 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