Roche and Broad Clinical Labs announced today a strategic collaboration to develop and implement applications for Roche's innovative Sequencing By Expansion (SBX) technology, with an initial focus on diagnosing genetic disorders in critically ill newborns.
The partnership will leverage Roche's recently unveiled next-generation sequencing (NGS) technology to advance trio-based whole genome sequencing—analyzing the genetic material of newborns alongside their biological parents—in neonatal intensive care units (NICUs). This approach aims to provide rapid, precise diagnoses for infants with suspected genetic conditions such as cystic fibrosis and sickle cell disease.
"The SBX technology was designed with both clinical impact and scientific discovery in mind, and offers the next-generation of fast, scalable sequencing solutions," said Matt Sause, CEO of Roche Diagnostics. "Collaborating with Broad Clinical Labs, a leader in clinical genomics and omics research, accelerates our ability to deliver on that promise and support better outcomes for patients through cutting-edge genomic technology."
Transforming Neonatal Care Through Advanced Genomics
The collaboration's primary goal is to establish whole genome sequencing as a standard component of clinical care in NICUs. For critically ill newborns, rapid genetic diagnosis can be life-changing, enabling targeted treatments and improved outcomes during a critical window of intervention.
Niall Lennon, Chair and CSO at Broad Clinical Labs, emphasized the transformative potential of this technology: "Integrating the SBX technology into clinical and translational pipelines opens exciting new possibilities. Together with Roche, we're aiming to demonstrate how fast, scalable, and high-quality sequencing can support both routine clinical care and drive biomedical innovation."
Broad Clinical Labs brings significant expertise to the partnership, having sequenced over 750,000 human genomes in pursuit of its mission to accelerate understanding and diagnosis of human disease.
SBX Technology: A Breakthrough in Genomic Sequencing
The SBX technology represents a significant advancement in next-generation sequencing, offering several key advantages over traditional methods:
- Ultra-fast turnaround times, critical for time-sensitive clinical settings
- Exceptional scalability for both small studies and large-scale projects
- Cost efficiency across various sequencing applications
- High-throughput performance with flexible workflow
- Longer read capabilities that provide more comprehensive genetic information
Originally developed by Mark Kokoris and Robert McRuer, founders of Stratos Genomics (acquired by Roche in 2020), the technology utilizes an advanced high-throughput CMOS sensor module that enables real-time base calls and analysis. This architecture allows for simultaneous processing of numerous samples, making it suitable for diverse applications including whole genome sequencing, whole exome sequencing, and RNA sequencing.
Expanding Beyond Neonatal Applications
While the initial focus is on neonatal care, the collaboration will also explore the capabilities of SBX technology for RNA sequencing, including both bulk and single-cell approaches. These efforts aim to unlock novel molecular insights that could reshape understanding of disease mechanisms and identify new therapeutic targets.
Researchers from the Broad Institute of MIT and Harvard, which owns Broad Clinical Labs, will be among the first to leverage the new system. The institute has led the field in developing and applying single-cell methods across various biomedical areas.
Advancing Precision Medicine at Scale
The partnership between Roche and Broad Clinical Labs reflects a shared vision of a genomics-enabled healthcare system and reinforces both organizations' commitment to advancing precision medicine.
For Roche, the world's largest biotechnology company and global leader in in-vitro diagnostics, this collaboration aligns with its 125-year history of pursuing scientific excellence to improve and save lives. The company has positioned itself as a pioneer in personalized healthcare, combining strengths in diagnostics and pharmaceuticals with clinical data insights.
The SBX technology is currently in development and not yet commercially available, but this collaboration marks a significant step toward bringing its benefits to clinical practice and research settings.
