Attending ASHG 2025? Discover our posters, presentations, and booth highlights.

Learn More

Broad Clinical Labs Sets New GUINNESS WORLD RECORDS™ Title for Fastest DNA Sequencing Technique

BOSTON, MA — October 15, 2025 — Broad Clinical Labs (BCL), in collaboration with Roche Sequencing Solutions and Boston Children’s Hospital, today announced official recognition by Guinness World Records for achieving the fastest DNA sequencing technique to date. Leveraging Roche’s new SBX sequencing technology1 and a streamlined, integrated workflow, the teams completed sequencing and analysis of the whole human genome in less than 4 hours, surpassing the previous benchmark of 5 hours and 2 minutes.

The team subsequently applied this process to samples obtained from the Boston Children’s Hospital neonatal intensive care unit to demonstrate a same day workflow from blood to report. The work was described today in the New England Journal of Medicine.

This achievement demonstrates that it is possible to create a timeframe in which a lab can receive a sample and return actionable information back in under 8 hours and still keep pace with a high-volume neonatal intensive care unit — a great improvement from current timeframes which are at least two days but more frequently greater than 5 days. This difference could be profoundly beneficial.

“Today, we are able to sequence human genomes faster than they’ve ever been done before,” said Niall Lennon, Ph.D., Chair and Chief Scientific Officer, Broad Clinical Labs and senior author on the study. “Together with Roche Sequencing Solutions and Boston Children’s Hospital, we demonstrated that rapid sequencing and interpretation are achievable in a matter of hours, and that brings us one step closer to a future where genetic answers can inform urgent decisions at the bedside.”

Whole genome sequencing offers the most comprehensive view of a patient’s genetic information, enabling clinicians to uncover variants associated with rare diseases, clarify uncertain diagnoses, and guide treatment decisions. In critical care environments such as the neonatal and pediatric intensive care units (NICU/PICU), hours can determine the difference between unnecessary procedures and targeted care. Accelerating the workflow through faster genome sequencing can shorten the diagnostic odyssey, leading to timely interventions, more precise care planning, and informed discussions with families.

“The idea of receiving genome sequencing results within the same timeframe as other diagnostic tests that we send routinely in the NICU has the potential to entirely shift the paradigm of genomic medicine in this setting,” stated the study’s first author, Monica Wojcik, MD, MPH, Attending Physician at Boston Children’s Hospital, assistant professor of pediatrics at Harvard Medical School, and associate member of the Broad Institute. “For some families, this genetic result is the keystone of their entire care plan, and waiting even for 2 days is an eternity.”

The Broad Institute (Broad Clinical Labs’ parent organization) has a long history of innovation and execution to accelerate the pace of biomedical research, dating all the way back to the Human Genome Project. This new joint effort successfully paired Roche’s in-development SBX technology with an optimized, end-to-end workflow, encompassing rapid sample processing, sequencing, secondary analysis (alignment and variant calling), automated quality control, and prioritized variant review. The streamlined approach, facilitated by orchestrated handoffs across laboratory and bioinformatics teams, ensured efficiency without compromising data quality.

Mark Kokoris, Head of SBX Technology, Roche Sequencing Solutions, commented, “SBX was engineered for speed, accuracy, and reliability. Achieving a sample to result in less than 4 hours shows what’s possible when cutting-edge chemistry, instrumentation, and analysis pipelines work in concert.”

___________________________________________________________________________

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 830,000 genomes in service of its mission to accelerate the understanding and diagnosis of human disease. For more information, please visit www.broadclinicallabs.org.

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

Note
[1] SBX technology is in development and not commercially available. The study was conducted for research purposes only and no diagnosis was performed.

____________________________________________________________________________

Media Contacts

For media inquiries or more information, please contact:

Broad Clinical Labs: Taisha Hendrickson;  thendric@broadinstitute.org

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.