In a pioneering collaboration aimed at transforming pediatric cancer diagnostics and research, Boston Children’s Hospital (BCH), Dana-Farber Cancer Institute (DFCI), 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 laboratory of Brian Crompton at DFCI’s pediatric oncology group, in collaboration with Broad scientists. This work demonstrated that circulating tumor DNA 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: BCH 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; and DFCI 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 of tumor samples and ultra-low pass whole genome sequencing 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.

“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 Mark 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 Kimberly Stegmaier, chair of the Department of Pediatric Oncology at Dana-Farber Cancer Institute and an institute member in the Broad's Cancer Program. 

“BrightSeq blends genomics innovation with scalable clinical operations. We’re proud to help create a framework that supports both care delivery and discovery,” said Niall Lennon, chair and chief scientific officer at Broad Clinical Labs. 

Adapted from a press release initially issued by Broad Clinical Labs, Dana-Farber Cancer Institute, and Boston Children's Hospital.