Single Lane Sequencing is now available for NovaSeq X Plus! Visit our Sequencing of Customer-Prepared Libraries service page.

Roche announces new collaboration with Broad Clinical Labs to accelerate adoption of cutting-edge SBX sequencing technology

Author: Niall Lennon

23 May 2025 – Roche announced today 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.

About Sequencing by Expansion (SBX) technology
Roche’s groundbreaking next-generation sequencing technology is designed to overcome the limitations of traditional sequencing methods. As well as high accuracy, it also offers an unparalleled combination of flexibility and speed, making it a versatile tool for a wide range of genomic applications.

One of the key benefits of the SBX technology is its scalability. The chemistry is coupled with an advanced, high-throughput CMOS sensor module that enables ultra-rapid, real-time base calls and analysis. This module is designed to process numerous samples simultaneously, creating a highly scalable and flexible architecture for cost-efficient sequencing across different project sizes, from small-scale studies to large projects involving thousands of samples.

This versatility makes the SBX technology suitable for a variety of applications, including whole genome sequencing, whole exome sequencing, and RNA sequencing. As a result, it holds promise not only for research laboratories but also eventually for clinical settings where detailed genomic insights are crucial. With SBX technology, researchers can meet new and evolving research demands efficiently, paving the way for significant advances in our understanding of genetics and disease, ultimately contributing to better healthcare outcomes.

The SBX chemistry was invented by Mark Kokoris and Robert McRuer who co-founded Stratos Genomics. Stratos Genomics was acquired by Roche in 2020. To find out more about Roche’s novel SBX technology, click here.

About Broad Clinical Labs
Broad Clinical Laboratories was founded in 2013 as a subsidiary of Broad Institute, Inc. to accelerate the world toward a better understanding, diagnosis, and treatment of disease by pursuing projects, developing products, and driving adoption of cutting edge -omics technologies and novel molecular assays. Broad Clinical Labs is a leader in human whole genome sequencing, having sequenced over 750,000 genomes in service of its mission to accelerate the understanding and diagnosis of human disease. For more information, please visit www.broadclinicallabs.org

About Roche
Founded in 1896 in Basel, Switzerland, as one of the first industrial manufacturers of branded medicines, Roche has grown into the world’s largest biotechnology company and the global leader in in-vitro diagnostics. The company pursues scientific excellence to discover and develop medicines and diagnostics for improving and saving the lives of people around the world. We are a pioneer in personalised healthcare and want to further transform how healthcare is delivered to have an even greater impact. To provide the best care for each person we partner with many stakeholders and combine our strengths in Diagnostics and Pharma with data insights from the clinical practice.

For over 125 years, sustainability has been an integral part of Roche’s business. As a science-driven company, our greatest contribution to society is developing innovative medicines and diagnostics that help people live healthier lives. Roche is committed to the Science Based Targets initiative and the Sustainable Markets Initiative to achieve net zero by 2045.

Genentech, in the United States, is a wholly owned member of the Roche Group. Roche is the majority shareholder in Chugai Pharmaceutical, Japan.

All trademarks used or mentioned in this release are protected by law.

Return to the Blog

Sean Hofherr

Chief of Clinical Strategy and Product Development, Broad Clinical Labs

Sean Hofherr is dual board certified by ABMGG in Clinical Biochemical Genetics and Clinical Molecular Genetics. Sean serves as the Chief of Clinical Strategy and Product Development at Broad Clinical Labs. In this role at BCL, Sean is able to leverage his extensive experience to guide the clinical vision and delivery across the organization. Sean most recently served as the Chief Operating Office at Fabric Genomics, which focuses on the use of AI and Bioinformatics for Clinical Interpretation of whole genome sequencing. Prior to Fabric, Sean was the Chief Scientific Officer and CLIA Director at the commercial reference laboratory, GeneDx.

Sean received his B.S. degree in Microbiology and Cell Sciences from the University of Florida before earning his Ph.D. in Molecular and Human Genetics from Baylor College of Medicine. Sean completed clinical fellowships in Clinical Biochemical Genetics and Clinical Molecular Genetics at the Mayo Clinic.

Danielle Perrin

Chief of Staff, Broad Clinical Labs

As Broad Clinical Labs’ Chief of Staff, Danielle Perrin advises and supports colleagues on the executive leadership team in BCL’s strategic planning and execution. She builds and leads new organizational functions and processes and leads critical projects, as well as driving effective information flow, decision making, and execution throughout the organization. An operations leader with a business, engineering, and biology background and 20+ years of experience in the genomics field, Perrin has a track record of driving operational excellence and building and scaling both physical and business processes. During her career at Broad, which started in 2003 at the tail end of the Human Genome Project, Perrin has led laboratory operations and R&D teams in Broad’s Genomics Platform, as well as fulfilling senior advisory and leadership roles in the Broad Institute’s COO and CFO offices.

Perrin received her B.S. in Biology and M.E. in Biotechnology Engineering from Tufts University and her M.B.A. from the MIT Sloan School of Management.

Tim De Smet

Chief Commercial Officer, Broad Clinical Labs

As Chief Commercial Officer of Broad Clinical Labs, Tim De Smet leads BCL’s business development, alliance management, external project management, and customer support teams. A Broad Institute employee since 2008, De Smet has held leadership roles and managed teams of various sizes in Broad’s Genomics Platform and clinical lab, spanning laboratory operations, finance, and informatics, and has expertise in work design, financial modeling, and high scale laboratory and business operations.

De Smet received his B.S. in Biochemistry and M.B.A. from Northeastern University.

Jim Meldrim

Chief Technology Officer, Broad Clinical Labs

As Chief Technology Officer, Jim Meldrim sets the vision for Broad Clinical Labs’ informatics systems, including the hardware and software used for sample intake and tracking, data production, analysis, and delivery. Having held a variety of laboratory and informatics-focused leadership roles at Broad, spanning R&D and production operations, Meldrim has been a leader and innovator in the generation, management, and analysis of genomic data since 1999, beginning with sequencing data generation for the Human Genome Project.

Meldrim received his B.S. in Biology from Cornell University.

Sheila Dodge

Chief Operating Officer, Broad Clinical Labs

As Chief Operating Officer, Sheila Dodge leads Broad Clinical Labs’ process development and implementation activities, as well as lab operations, financial planning and operations, quality & compliance, and core business processes. A Six Sigma Black Belt with extensive experience in process development and high throughput genomics operations, Dodge is an expert in work design and in collaborating with a range of collaborators, scientists, engineers, and technology partners to rapidly integrate new technologies and operationalize innovations. A member of the Broad Institute since 2001, Dodge is an Institute Scientist and lectures at the MIT Sloan School of Management on operations, dynamic work design, and visual management techniques.

Dodge received her B.A. in biochemistry and molecular biology from Boston University and her master’s degree in biology from Harvard University. She earned her M.B.A. from MIT Sloan School of Management.

Heidi Rehm, Ph.D., FACMG

Chief Medical Officer and Clinical Laboratory Director, Broad Clinical Labs

Heidi Rehm is board-certified by ABMGG in Clinical Molecular Genetics and Genomics and serves as BCL’s Chief Medical Officer and Clinical Laboratory Director. She oversees BCL’s regulatory requirements, leads the clinical team performing genomic interpretation and variant analysis, and guides BCL’s efforts in genomic testing for clinical and research use. She is also an Institute Member of the Broad and co-director of the Medical and Population Genetics Program. Rehm is also the Chief Genomics Officer in the Department of Medicine and Genomic Medicine Unit Director at the Center for Genomic Medicine at Massachusetts General Hospital, working to integrate genomics into medical practice. She is a principal investigator of ClinGen, providing free and publicly accessible resources to support the interpretation of genes and variants. She co-leads both the Broad Center for Mendelian Genomics, focused on discovering novel rare disease genes, and the Matchmaker Exchange, which aids in gene discovery. She is Chair of the Global Alliance for Genomics and Health, a principal investigator of the Broad-LMM-Color All of Us Genome Center, co-leader of the Genome Aggregation Database (gnomAD), and a Board Member and Vice President of Laboratory Genetics for the American College of Medical Genetics and Genomics.

Rehm received her B.A. degree in molecular biology and biochemistry from Middlebury College before earning her M.S. in biomedical science from Harvard Medical School and Ph.D. in genetics from Harvard University. She completed her post-doctoral training with David Corey in neurobiology and a fellowship in clinical molecular genetics at Harvard Medical School.

Niall Lennon, Ph.D.

Chair and Chief Scientific Officer, Broad Clinical Labs

As Chair and Chief Scientific Officer of Broad Clinical Labs, Niall Lennon leads the team and sets the scientific and clinical vision for the organization. Dr. Lennon joined the Broad Institute in 2006 and has since contributed to the development of applications for every major massively parallel sequencing platform across a range of fields. In 2013 Dr. Lennon led the effort to establish a CLIA licensed, CAP-accredited clinical laboratory at the Broad Institute to facilitate return of results to patients and to support clinical trials. More recently, he has led efforts to achieve FDA approval for large-scale genomics projects (NIH’s All of Us Research Program) and for Broad’s own clinical diagnostic for COVID-19 testing operation, which returned 37+ million results to patients. Dr. Lennon is a principal investigator of the eMerge and All of Us projects, an Institute Scientist at Broad, Associate Director of Broad’s Gerstner Center for Cancer Diagnostics, and an adjunct professor of biomedical engineering at Tufts University, where he teaches Molecular Biotechnology.

Dr. Lennon received a Ph.D. in pharmacology from University College Dublin and completed his postdoctoral studies at Harvard Medical School and Massachusetts General Hospital. He holds an executive certificate in management from the MIT Sloan School of Management.