Whole exome sequencing (WES) and whole genome sequencing (WGS) are transforming newborn screening by enabling early, comprehensive genetic insight.
Breda Genetics has contributed to the execution of large-scale genomic screening programs, involving thousands of neonatal samples, integrating sequencing data analysis, variant interpretation, and clinical reporting within a unified workflow. Including programs where genomic analysis and reporting were centralized in a single laboratory infrastructure.
Our approach is designed not only for discovery, but for clinical usability at scale—where timing, consistency, and interpretative rigor directly impact patient outcomes.
The Breda Genetics’ Newborn Screening workflow in structured Research Projects is streamlined as follows
In high-volume newborn screening projects, the critical challenge is not sequencing alone, but the ability to:
process large numbers of samples within strict timelines
perform consistent and high-quality bioinformatic analysis
interpret genomic variants in a clinically actionable framework
deliver structured genetic reports ready for clinical use
Breda Genetics operates across the entire pipeline, from raw data to final report, ensuring continuity between bioinformatics and clinical interpretation.
Our infrastructure and workflows have been applied in projects involving thousands of neonatal cases, requiring:
scalable data management (including long-term storage and re-analysis capability)
standardized yet flexible interpretation frameworks
rapid turnaround times compatible with clinical needs
integration with external clinical and research environments
This experience allows Breda Genetics to support both pilot studies and full-scale implementation programs.
Breda Genetics is not just a sequencing provider. We act as a clinical genomics infrastructure partner, enabling newborn screening programs to move from experimental design to operational reality. Our role is to ensure that genomic data becomes clinically interpretable, scalable, and sustainable over time.
For a detailed discussion of real-world implementation challenges in large-scale newborn genomic screening, see our technical analysis.
In a recent newborn genomic screening program:
>4,500 neonatal samples processed
Centralized bioinformatic analysis and clinical interpretation
Structured genetic reports generated and delivered within a defined clinical workflow
Integration of raw data storage enabling long-term reanalysis
Support for follow-up cases and extended genomic investigations
This experience reflects Breda Genetics’ ability to operate in high-throughput, clinically driven genomic environments.
Infrastructure
for large-scale genomics.
Bring your genomic project to life.