Dana-Farber Cancer Institute, Boston Children’s Hospital, and Broad Clinical Labs form BrightSeq collaborative to develop novel clinical diagnostic assays for rare pediatric cancers.


Dana-Farber Cancer Institute, Boston Children’s Hospital, and Broad Clinical Labs have launched BrightSeq—Boston Research in Innovative Genomics for Hematologic and Tumor Sequencing—a collaborative clinical research and testing initiative designed to improve pediatric cancer diagnostics through precision genomics.

The initiative aims to design, validate, and implement a suite of novel clinical diagnostic and prognostic assays specifically tailored to rare pediatric cancers. According to the National Cancer Institute, cancer is the leading cause of death by disease after infancy among children in the US, with nearly 15,000 children and adolescents expected to be diagnosed with cancer in 2024.

BrightSeq operates through a distributed model where each institution leads distinct roles in the assay lifecycle. Boston Children’s Hospital will handle clinical variant interpretation and reporting to ensure 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,” says Kimberly Stegmaier, MD, chair of the Department of Pediatric Oncology at Dana-Farber Cancer Institute and an institute member at Broad Institute, in a release.

The target product suite is designed to provide clinical somatic molecular testing for known or suspected pediatric solid malignancies and sarcomas. BrightSeq 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,” says Mark D. Fleming, MD, DPhil, pathologist-in-chief at Boston Children’s Hospital, in a release.

The initiative builds on foundational research from the Crompton laboratory at Dana-Farber Cancer Institute’s pediatric oncology group, developed in collaboration with Broad scientists. This work demonstrated that circulating tumor DNA is a clinically meaningful biomarker for pediatric solid tumors, establishing the 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,” says Niall Lennon, PhD, chair and chief scientific officer at Broad Clinical Labs, in a release.

The initiative is supported by philanthropic donors and aims to simultaneously improve patient care through actionable genomic findings and accelerate pediatric cancer research through robust sample acquisition and correlative molecular analysis.

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