Imagine if, just days after birth, doctors knew whether a baby was at risk for a rare but treatable disease, before symptoms appear. It's the promise of next-generation sequencing (NGS) a powerful technology reshaping how we understand and protect newborn health.
What is NGS, and why does it matter?
NGS acts like a super-powered microscope for DNA, rapidly scanning a baby's genetic code to identify even subtle variations linked to serious conditions. It enables earlier intervention, better outcomes, and peace of mind for families.
But while NGS has transformed genetic research, it's not yet standard practice in newborn screening. Key questions remain:
- How do we make it accessible for every baby, everywhere?
- How do we support families receiving potentially life-changing genetic information?
- How do we manage the enormous data NGS generates?
Where progress is happening
Despite these challenges, programs worldwide are demonstrating what's possible when technology, collaboration and care come together.
Early Check (North Carolina, USA) - This voluntary program uses the same non-invasive dried blood spot collected at birth to screen for additional rare conditions. We provide sequencing and interpretation services that help families get critical answers faster.
The Generation Study (England) - We recently expanded our collaboration with Genomics England, to support the Generation Study, one of the world's largest to integrate NGS into newborn screening. The goal: sequence the genomes of up to 100,000 babies for more than 200 rare conditions. With a new lab facility in England, we are enabling quicker, localized results and helping set a global benchmark for genomic screening.
Screen4Care (Europe) - This pan-European initiative combines NGS, AI, and digital tools to cut rare disease diagnosis times, often by years. With strong patient advocacy involvement, it keeps innovation grounded in real human needs.
Listening, learning, solving together
Collaboration is at the heart of progress. We work side-by-side with laboratories, clinicians, and health systems to solve real-world challenges, whether that's workflow, data generation, cost, training, or data analysis and interpretation.
Some labs need automation to handle higher sample volumes. Others need bioinformatics or cutoff-setting support. Families need results explained clearly. By listening first and innovating together, we ensure solutions fit practice, not just research settings.
The tools making it possible
We're building the infrastructure to make NGS practical, scalable and sustainable in newborn care:
- 2024: Introduced a full "sample-to-answer" sequencing workflow that screens 350+ genes, from dried blood spot collection and automated extraction to sequencing with Element AVITI.
- 2025: Further advancement in collaboration with Element Biosciences to develop an in vitro diagnostic IVD workflow for neonatal sequencing, advancing toward regulatory-grade solutions that could one day become standard in newborn screening programs worldwide.
- Our Scientific Centre of Excellence in Cambridge, UK serves as a hub for discovery, diagnostics, and delivery, bridging the gap between genomic insight and practical healthcare applications.
- Revvity Omics, a global network of laboratories, serves as a service provider delivering sequencing and analysis support for diverse healthcare systems.
Why it matters
The impact is already clear:
- Nearly 1 in 10 babies carry a genetic risk for a condition that would have been missed by traditional screening. 1
- 43% of babies were carriers of at least one genetic condition, valuable for future family planning. 2
- Early detection allows for timely treatment, better health outcomes, and reduced long-term healthcare costs.
That same dried blood spot that's been a screening staple for decades can now unlock a deeper view of a child's genetic health, offering clarity in moments of uncertainty.
Expanding access worldwide
Despite NGS's promise, access remains uneven. Infrastructure, cost, and training barriers prevent many regions from benefiting. This disparity can delay or prevent early detection of genetic conditions, leaving children without intervention that could significantly improve their quality of life.
Our Global NGS for NBS Initiative empowers healthcare providers worldwide to deliver life-changing genomic insights from day one. Through Revvity Omics' international lab network and scalable NGS solutions, we help ensure every child, no matter where they're born, has a chance at a healthier future. Through innovative products, scalable services, and expert support, we strive to empower clinicians and public health programs to implement high-quality newborn screening programs worldwide, helping ensure that every child has a chance at a healthier future.
The next chapter
The future of newborn screening isn't about adding tests, it's about transforming care from the very start of life. NGS delivers answers in days, not years, helping children get the care they need sooner.
Getting there takes more than technology. It takes collaboration, listening, learning, and designing solutions that fit real-world needs. Programs like Early Check, the Generation Study, and Screen4Care are paving the way for a new global standard in care.
To us, this is more than science. It's about giving families hope, helping children thrive, and redefining what's possible. Because when we can see the future sooner, we can change it. Challenge accepted.
This testing service has not been cleared or approved by the U.S. Food and Drug Administration. Testing services may not be licensed in accordance with the laws in all countries. The availability of specific test offerings is dependent upon laboratory location. The content on this page is provided for informational purposes only, not as medical advice. It is not intended to substitute for the consultation, diagnosis, and/or treatment provided by a qualified licensed physician or other medical professionals.
