Next-Generation Newborn Genomic Screening
Newborn genomic screening is the single largest emerging opportunity in clinical genomics. The UK NHS has committed £650 million to screen every newborn within the decade. The US GUARDIAN study demonstrated that genomic screening detects 12 times more treatable conditions than conventional heel-prick tests. Yet most countries lack the infrastructure to deliver this at scale. Genomatis Neonatal is a turnkey platform purpose-built for national and regional newborn screening programmes — designed by a team with deep experience in national-scale genomic data infrastructure.
Screening for 450+ Treatable Conditions
Comprehensive gene panel covering metabolic disorders, immunodeficiencies, endocrine conditions, cardiac, neurological, and haematological diseases — all with established interventions when detected early.
Rapid Turnaround
Optimised for fast results from sample receipt to clinician-ready report. Critical for conditions where early intervention in the first days of life fundamentally changes outcomes. Actual turnaround time depends on sequencing equipment used.
Hospital & Lab Workflow Integration
Seamless integration with maternity ward systems, neonatal ICUs, and laboratory information management systems. Automated sample tracking from collection to report delivery.
Family-Centred Reporting
Dual-format reports: detailed clinical summaries for geneticists and neonatologists, plus clear, compassionate parent-facing explanations in their preferred language.
Population-Scale Architecture
Designed to handle national-scale volumes: millions of screenings per year. Architectural patterns proven in national-scale genomic programmes, modernised with cloud-native scalability.
Why Neonatal Screening Matters
A landmark 2024 study published in Nature Medicine found that whole genome sequencing of 4,000 newborns detected 120 babies with serious, treatable conditions — while conventional screening detected only 10. That is a 12x improvement in detection.
For conditions like spinal muscular atrophy (SMA), phenylketonuria (PKU), and severe combined immunodeficiency (SCID), the difference between detection at birth versus diagnosis at age 2 can mean the difference between a normal life and irreversible disability.
With whole genome sequencing costs approaching $500 per newborn and falling, universal genomic screening is no longer a question of technology — it is a question of infrastructure. Genomatis Neonatal provides that infrastructure.