Pioneering Collaboration to Transform Pediatric Cancer Diagnostics and Research

By LabMedica International staff writers
Posted on 11 Aug 2025

Cancer remains the leading cause of disease-related death after infancy in the U.S., despite being rare in children and adolescents. In 2024, nearly 15,000 children and teens were expected to be diagnosed with cancer, with around 1,500 deaths projected. Diagnosing these cancers can be complex due to their rarity and molecular diversity. Now, a new collaborative clinical research and testing initiative aims to address these challenges by creating a suite of clinical assays tailored to rare pediatric cancers.

The new initiative, named BrightSeq (Boston Research in Innovative Genomics for Hematologic and Tumor Sequencing), is the result of pioneering collaboration between Dana-Farber Cancer Institute (Boston, MA, USA), Boston Children’s Hospital (Boston, MA, USA), and Broad Clinical Labs (Boston, MA, USA). Each partner leads a specific part of the process: Dana-Farber oversees patient engagement and translational assay innovation, Boston Children’s Hospital handles clinical variant interpretation, and Broad Clinical Labs manages sequencing and bioinformatics in a CLIA/CAP-certified facility.

Image: The collaborative initiative for pediatric cancer blends genomics innovation with scalable clinical operations (Broad Clinical Labs)

BrightSeq’s product suite focuses on somatic molecular testing for suspected pediatric solid tumors and sarcomas. It includes CLIA-validated assays for whole exome sequencing (WES) of tumor samples, ultra-low pass whole genome sequencing (ULPWGS), and custom hybrid capture sequencing of liquid biopsies. These tools enable tumor fraction estimation and profiling of somatic alterations relevant to pediatric cancers. The suite is designed to support both clinical decision-making and genomic discovery.

The foundation for BrightSeq was built on earlier research from Dana-Farber’s pediatric oncology group and Broad scientists, which showed circulating tumor DNA (ctDNA) is a meaningful biomarker in pediatric solid tumors. This finding supported integrating liquid biopsy into routine pediatric cancer care. Philanthropic support helped translate this foundational science into the operational BrightSeq platform, now being implemented.

By returning actionable genomic insights to care teams, BrightSeq enhances patient management while advancing research through expanded sample collection and molecular analysis. The initiative’s goal is twofold: improve diagnostics and outcomes for young cancer patients, and fuel discovery across pediatric oncology through innovative genomics.

“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 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, Boston Children’s Hospital.

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