Clinical characterization and functional annotation of solid tumor gene fusions using the DRAGEN analysis pipeline

Characterization and determining functionality of gene fusions identified by next generation sequencing (NGS) remains a major challenge in clinical reporting, due to limited guidelines and analysis tools. For non-canonical fusions, the manual annotation process can be labor intensive and time-consuming, where current programs often lack precision with directionality and location of breakpoints. Here we present a fusion caller and functionality algorithm that offers an automated process to aid in gene fusion characterization.

Single digit parts per million detection of molecular residual disease through integrated tumorinformed whole-genome sequencing analysis

Assessing molecular residual disease (MRD) through liquid biopsy for circulating tumor DNA (ctDNA) is a promising area of development in clinical cancer research, evaluates MRD through assessment of ctDNA in patients diagnosed with earlystage, solid tumor malignancies. 

Automation of PGDx elio® tissue complete on the Beckman Coulter Biomek NGeniuS System

The PGDx elio® tissue complete (ETC) assay is an FDA-approved, comprehensive next-generation sequencing (NGS) assay designed for tumor profiling. Available as a decentralized kit, it utilizes DNA extracted from formalin-fixed paraffin-embedded (FFPE) tumor tissue and requires approximately six hours of hands-on time, and three days of laboratory processing by qualified personnel. Next-generation sequencing (NGS) workflows often involve detail oriented multistep procedure that are susceptible to human error and can limit the sample throughput. Introducing automated liquid handling systems can improve efficiency, streamline complex procedure and enhance reproducibility. The Beckman Coulter Biomek NGeniuS is a compact benchtop liquid handling system developed for NGS library preparation. This instrument is a costeffective choice that offers a fixed deck layout and low dead volume requirements compared to other automated platforms on the market. The goal for this study to compare the performance between the standard PGDx ETC manual process and an automated workflow on the Biomek NGeniuS system

Concordance Analysis of Liquid Biopsy-based Tumor Variant Detection Between a Centralized Specialty Laboratory and the PGDx elio® plasma focusᵀᴹ Dx Kitted Solution

Liquid biopsy (LBx) is an effective strategy for minimally invasive characterization of solid tumors by detection of tumor-derived cell-free DNA (cfDNA) from blood. This testing modality offers a complementary and/or alternative to tissue biopsy, currently considered standard of care for tumor profiling. Through a next-generation sequencing (NGS) approach, liquid biopsy results can help guide treatment selection and monitor treatment response in advanced cancer patients. National Comprehensive Cancer Network (NCCN®) guidelines currently recommend liquid biopsy molecular profiling via NGS in multiple advanced cancers including NSCLC, breast, colon, rectal, and prostate cancers. PGDx elio plasma Dx (EPF Dx) is an FDA-authorized kitted hybrid-capture NGS LBx assay (DEN230046, August 2024).

Artificial intelligence-powered spatial analysis reveals distinct tumor-immune microenvironments associated with MET mutations in non-small cell lung cancer

MET alterations, including exon 14 skipping mutations and amplifications, are known oncogenic drivers in non-small cell lung cancer (NSCLC). Their impact on the tumor microenvironment (TME) remains poorly understood. Previous studies have relied on bulk sequencing methods to characterize differences in the TME; however, these methods lack the spatial resolution needed to capture complex interactions between tumor, immune, and stromal cells. Spatial analysis of whole slide images (WSIs) offers a powerful approach to characterize the TME with high resolution, preserving critical information about cellular localization and interactions. This study aimed to leverage artificial intelligence (AI)-powered spatial analysis of WSIs to characterize the immune phenotypes and cellular composition associated with different MET mutation statuses in NSCLC.

Labcorp Plasma Complete Real-World Evidence (RWE) Analysis to Demonstrate Clinical Utility and Actionability in Cancer Patients

Comprehensive genomic profiling via next-generation sequencing (NGS) can help inform cancer treatment decisions based on the presence of clinically relevant biomarkers. Although still early in its clinical adoption, liquid biopsy testing is a complementary approach for tumor genomic profiling when tissue is limited, exhausted, unavailable, or molecular results are pending. Labcorp Plasma CompleteTM is a molecular genomic liquid biopsy NGS test that analyzes cell free DNA (cfDNA) derived from plasma to identify genomic alterations in patients with advanced or metastatic solid tumors. Clinical actionability of detected alterations is evaluated as part of the testing workflow to help determine eligibility for approved therapies, targeted treatment options, clinical guideline alignment, and clinical trial matching. Since the commercial launch of the Labcorp Plasma Complete laboratory developed test (LDT) in February 2025, over 750 cases have been reported to help guide clinical decision-making for ordering providers

Revealing new utilities of MRD Assays in Patients with Unresectable Pancreatic Cancer

Pancreatic adenocarcinoma (PC) is one of the most lethal diseases with incidence rising in Asian-Pacific populations, especially in Japan1,2. While minimal residual disease (MRD) assessment using circulating tumor DNA (ctDNA) has been shown to be clinically relevant for assessing treatment efficacy in select cancers3, utility in PC is unclear. We conducted a prospective study (ARTEMIS-PC) to evaluate the utility of a personalized, tumor-informed MRD assay in PC

Immune Gene Expression Patterns in Molecular Subtypes of Endometrial Carcinoma

Endometrial carcinoma is a biologically heterogeneous disease that can be stratified into four molecular subtypes—MSI-H, POLE-ultramutated (POLEum), copy-number high (CNH), and tumors with no specific mutational profile (NSMP, sometimes referred to as “copy-number low”)

A path to peace of mind: Mark’s experience with prostate cancer

Discover how prostate cancer, PSA screening and genetic testing awareness empower men's health decisions at every stage of life with knowledge.

Better Together: Exploring the Synergy of Germline and Somatic Testing for Treating and Managing Cancer

This session explores how somatic and germline genetic testing in oncology can enable more comprehensive insights into cancer biology and treatment. Traditionally, these two testing modalities have been performed independently, limiting the scope of data that can inform clinical decisions. We aim to demonstrate the clinical utility of integrating somatic and germline data to guide therapeutic decisions, particularly for cancers where germline and somatic variants influence treatment.