• The strategic collaboration with Broad Clinical Labs will explore and develop applications using Roche’s SBX sequencing technology¹, with an initial focus on critically ill newborns and their parents.
• Whole genome sequencing can help diagnose babies with suspected genetic disorders, such as cystic fibrosis and sickle cell disease.
• This project will explore how this technology could become part of routine clinical practice for newborns, as well as its use in other research applications.

 Roche announced a strategic collaboration with Broad Clinical Labs to develop and pilot groundbreaking applications using Roche’s recently unveiled next-generation sequencing (NGS) Sequencing By Expansion (SBX) technology. This collaboration will focus on harnessing the power of the SBX technology to transform clinical genomics and biomedical discovery. It will also aim to establish the SBX technology as a routine offering for fast, scalable sequencing for Broad Clinical Lab’s research community.

The first project will see Broad Clinical Labs using the SBX technology to advance research into trio-based whole genome sequencing of critically ill newborns and their biological parents. This program aims to establish a future state where whole genome sequencing becomes a routine component of clinical care in neonatal intensive care units (NICUs) —enabling precise, timely diagnoses and improved outcomes for infants with suspected genetic disorders.

“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.”

“Integrating the SBX technology into clinical and translational pipelines opens exciting new possibilities,” said Niall Lennon, Chair and CSO at Broad Clinical Labs. “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.”

The SBX technology represents a significant leap forward in next-generation sequencing, offering ultra-fast turnaround times, exceptional scalability, and cost efficiency across a range of sequencing applications. The SBX technology has been tailored to deliver high-throughput performance with a flexible workflow that will support rapid deployment in time-sensitive settings like neonatal intensive care units (NICUs) and comprehensive multi-omic discovery research.

The collaboration will also explore the capabilities of the SBX technology for RNA sequencing, including both bulk and single-cell approaches. These efforts will focus on leveraging the longer reads of the SBX technology to unlock novel molecular insights and data types that could reshape how researchers understand disease mechanisms and identify new therapeutic targets. Broad Clinical Labs is a wholly owned subsidiary of the Broad Institute of MIT and Harvard. Broad Institute researchers, who have led the field in the development and application of single cell methods across a range of biomedical areas, will be the early users to leverage the new system.

The collaboration 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 at scale.