Precision Genomics Initiative for Pediatric Cancer Launched

In a pioneering collaboration aimed at transforming pediatric cancer diagnostics and research, 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 - 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 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 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.

"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.

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.

"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.

This initiative, made possible by the generous support of numerous philanthropic donors, 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-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.

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