Dana-Farber Cancer Institute, Boston Children's Hospital, and Broad Clinical Labs have announced the formation of BrightSeq — Boston Research in Innovative Genomics for Hematologic and Tumor Sequencing — a groundbreaking collaborative initiative designed to transform pediatric cancer diagnostics through precision genomics.
The partnership addresses a critical medical need, as cancer remains the leading cause of death by disease after infancy among children in the United States. According to the National Cancer Institute, approximately 15,000 children and adolescents will be diagnosed with cancer in 2024, with around 1,500 expected to die from the disease.
Distributed Expertise Model
BrightSeq operates through a distributed operational model where each institution contributes specialized capabilities across 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 while providing continuous innovation in assay development and bioinformatics. Dana-Farber Cancer Institute will drive patient and consortia engagement, research cohort analysis, and translational assay innovation.
"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.
Clinical Testing Suite
The BrightSeq initiative will develop a comprehensive suite of clinical diagnostic and prognostic assays specifically tailored to rare pediatric cancers. 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. These technologies will enable sensitive tumor fraction estimation and targeted somatic profiling for key genomic alterations relevant to pediatric cancers.
"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.
Scientific Foundation
The initiative builds on prior foundational research developed in the Crompton laboratory at 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.
"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.
Dual Impact Strategy
The collaboration 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. This dual approach addresses both immediate clinical needs and long-term research objectives in pediatric oncology.
The initiative has been made possible through the generous support of numerous philanthropic donors, highlighting the community investment in advancing pediatric cancer care and research capabilities.
