First next generation sequencing clinical assay launched

The Molecular Pathology Laboratory at BIDMC has developed a Next Generation Sequencing (NGS) assay designed for rapid and comprehensive analysis of key mutations associated with myeloid malignancies. The Ultra-Fast NGS Myeloid Panel was launched on July 7, 2025, and is serving the needs of patients of the BIDMC Blood Cancer Program. Leveraging streamlined workflows and optimized bioinformatics pipelines, this assay delivers high-quality results with significantly reduced turnaround time—typically within 3-4 days. It provides critical diagnostic, prognostic, and therapeutic information to support timely clinical decision-making in hematologic oncology. The assay is designed for sensitive detection of myeloid disorder-associated DNA mutations and RNA fusion transcripts in blood and bone marrow samples.

This is the first of a series of NGS-based assays to support cancer care at BIDMC. A complete genomic profiling assay comprised of a large DNA panel and an RNA fusion panel is also under development and is expected to go live at the end of the year. The laboratory has also developed a set of ultra-fast singe-gene assays with a laboratory turnaround time of < 24 hours for common mutations in the EGFR, KRAS, BRAF, and NRAS genes in solid tumors. Additional ultra-fast assays include an RNA fusion test for solid tumors, IDH1/IDH2 ingliomas, and POLE/POLD1 in endometrial cancer. These advancements are supported by the expert faculty at Pathology as well as the clinical oncologist community at BIDMC.

Group photo, l-r: Atsushi Tanaka, MD, PhD, pathologist; Darion Tilton, MLS; Megan Pitts, MLS; Tom Moutinho, PhD, Genomic Bioinformatician; Annie Cheng, BSC, ASCP (M, SV), Clinical Manager; Eleanor Kelly, MLS; Samuel Smith, MLS; and Divya Bhagirath, PhD, Lead Genomic Scientist.