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Boston Children’s Hospital, Dana-Farber Cancer Institute, and Broad Clinical Labs launch precision genomics initiative for pediatric cancer

In a pioneering collaboration aimed at transforming pediatric cancer diagnostics and research, Boston Children’s Hospital, Dana-Farber Cancer Institute, and Broad Clinical Labs have announced the formation of BrightSeq—Boston Research in Innovative Genomics for Hematologic and Tumor Sequencing – a collaborative clinical research and testing initiative.  

The National Cancer Institute reports that although cancer in children and adolescents is rare, it is the leading cause of death by disease after infancy among children in the United States. It is estimated that, in 2024, just under 15,000 children and adolescents will be diagnosed with cancer and around 1,500 will die of the disease. BrightSeq is a groundbreaking effort to design, validate, and implement a suite of novel clinical diagnostic and prognostic assays specifically tailored to rare pediatric cancers.  

This initiative, made possible by the generous support of numerous philanthropic donors, builds on prior foundational research developed in the Crompton laboratory at the Dana Farber Cancer Institute’s pediatric oncology group, in collaboration with Broad scientists. This work demonstrated that circulating tumor DNA (ctDNA) is a clinically meaningful biomarker for pediatric solid tumors, establishing a compelling case for integrating liquid biopsy and genomic technologies into routine clinical care—and laying the groundwork for BrightSeq’s innovative assay design. 

By harnessing the complementary expertise of three world-renowned institutions, this initiative aims to simultaneously improve patient care through the return of actionable genomic findings, and accelerate pediatric cancer research through robust sample acquisition and correlative molecular analysis. 

 

A Distributed Model for Clinical Innovation 

BrightSeq represents a distributed operational model where each institution leads a distinct and critical role in the assay lifecycle: Boston Children’s Hospital will lead clinical variant interpretation and reporting, ensuring medically actionable insights reach care teams; Broad Clinical Labs will build, validate, and operate clinical sequencing and genomic analysis in its CLIA/CAP facility as well as provide continuous innovation in assay development and bioinformatics; Dana-Farber Cancer Institute will drive patient and consortia engagement, research cohort analysis, and translational assay innovation. 

 

The BrightSeq Pediatric Assay Suite 

The target product suite is designed to provide clinical somatic molecular testing for known or suspected pediatric solid malignancies and sarcomas. The BrightSeq suite will deliver CLIA assays for somatic whole exome sequencing (WES) of tumor samples and ultra-low pass whole genome sequencing (ULPWGS) and custom hybrid capture sequencing of liquid biopsy samples for sensitive tumor fraction estimation and targeted somatic profiling for key genomic alterations relevant to pediatric cancers.
 

Institutional Leaders Reflect on the Impact 

“BrightSeq exemplifies our commitment to precision diagnostics for children with cancer. The clinical and research benefits of this platform will be significant and immediate,” said Dr. Mark D. Fleming, Pathologist-in-Chief at Boston Children’s Hospital. 

“This collaborative model will empower us to address urgent needs in pediatric cancer research while also returning critical results to patients and families,” noted Dr. Kimberly Stegmaier, Chair of the Department of Pediatric Oncology at Dana-Farber Cancer Institute. 

“BrightSeq blends genomics innovation with scalable clinical operations. We’re proud to help create a framework that supports both care delivery and discovery,” said Dr. Niall Lennon, Chair and Chief Scientific Officer at Broad Clinical Labs. 

 

About Boston Children’s Hospital  

Boston Children’s Hospital is ranked among the best children’s hospitals in the nation. Home to the world’s largest research enterprise based at a pediatric medical center, Boston Children’s has led the way in life-changing pediatric innovation since its founding in 1869. From bench to bedside, scientists work on preventing, treating, and curing diseases that impact both children and adults, no matter how rare or complex the condition. 

About Dana-Farber Cancer Institute  

Dana-Farber Cancer Institute is an internationally renowned center for adult and pediatric cancer treatment and research. Through a deep integration of science and clinical care, Dana-Farber is at the forefront of relentless work to understand, prevent, and treat cancer. 

About Broad Clinical Labs  

Broad Clinical Laboratories was founded in 2013 as a non-profit subsidiary of Broad Institute of MIT and Harvard 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. www.broadclinicallabs.org  

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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.