2025 Annual Meeting Corporate Workshops

Guideline-Driven PGx Testing: A New, Targeted Testing Approach Covering All AMP Tier 1 and Tier 2 Pharmacogenomic Recommendations.

Dr. Jai Patel, Associate VP, Translational Research, Director, Cancer Pharmacology & Pharmacogenomics, Atrium Health Levine Cancer, and Dr. Vicky Pratt, past president of AMP, have been at the forefront of pharmacogenomics, continually keeping pace with the evolving PGx landscape to implementing relevant, guideline-driven testing.

In this workshop they will discuss the validation and implementation of the new VeriDose Core v2.0 PGx Panel, which contains all AMP Tier 1 and Tier 2 consensus recommendations for standardization of alleles for clinical pharmacogenomic genotyping assays for CYP2C19, CYP2C9, warfarin genes, CPY2D6, CYP3A4, CYP3A5, TPMT and NUDT15. Attendees will gain insights into these evidence-based guidelines and the implementation of standardized PGx testing within the laboratory.

Precision Oncology in Practice: Relevance of DPYD Genotyping and Implementation of Rapid Methylation, Lung and AML Panels for Faster results.

Dr. Jai Patel, Associate VP, Translational Research, Director, Cancer Pharmacology & Pharmacogenomics, Atrium Health Levine Cancer, Associate Director and Dr. Laila Mnayer, Director, Molecular Pathology & Cytogenetics, Hartford Hospital, Hartfort, CT. 

In this workshop, first Dr. Patel will educate about the relevance to analyzing the DPYD gene for AMP-recommended mutations, causing some cancer patients to experience severe, potentially fatal toxicity when treated with standard doses of fluoropyrimidine chemotherapies. Then, Dr. Mnayer will share how the implementation of two targeted panels for NSCLC and AML, in addition to methylation panels for MGMT and MLH1, provide results within 48-72 hours and have significantly improved the workflow in their Molecular Pathology Laboratory. 

Innovations in Tumor Profiling: From CGP to Joint Exome and Transcriptome Analysis

Augusta University will share real-world experience with the SureSelect Cancer CGP Assay and the Magnis NGS Prep System, highlighting its automated, high-throughput workflow, robust sensitivity at low input, and support for DNA/RNA targets across solid tumors. Dartmouth will present a scalable joint exome and transcriptome solution developed with Agilent, featuring a unique design strategy, automated workflow, and academic access program. Together, these talks showcase innovative, clinically relevant approaches to comprehensive genomic profiling, including detection of fusions, rare variants, and key biomarkers like TMB, MSI, and HRD.

Note: Products mentioned are for Research Use Only. Not for use in diagnostic procedures.

Aventa Lymphoma: Robust Genome Wide Fusion and Rearrangement Detection, a Modern Alternative to FISH for Diagnostic Testing

Aventa Lymphoma is a clinically validated lab developed test that leverages Hi-C sequencing to detect all clinically relevant fusions and rearrangements in B- and T-cell lymphomas. This workshop will provide an overview of test technology as well as the clinical experience of three practicing pathologists who have utilized the test, including their results on comparison with clinical FISH, deconvolution of atypical FISH results, and clinical case studies.

Breaking Barriers in Carrier Screening and Beyond: Unlocking Complex Variants with AmplideX Enrichment and Long-Read Sequencing

Dive into Asuragen’s cutting-edge AmplideX Nanopore Carrier Plus Kit (RUO), with a concise overview of its capabilities along with a preview of exciting upcoming product updates.

Gain valuable insights from a laboratory as they share their validation journey with an emphasis on workflow, data analysis software, and performance metrics.

ESR1 Testing and Monitoring in Metastatic Breast Cancer: A Paradigm Shift for Molecular Pathology Labs

Join us for an engaging discussion with a top breast pathologist and a renowned breast oncologist on ESR1 mutation detection in advanced HR+/HER2- breast cancer. This interactive session will review the growing medical need for ESR1 mutation detection to inform treatment decisions. We will also cover pivotal clinical trials demonstrating the need for plasma-based ESR1 testing not only at progression but for monitoring while on therapy, and discuss new approaches for optimizing test sensitivity in liquid biopsy specimens. Pathologists and lab professionals seeking personalized approaches for HR+/HER2 breast cancer management can't miss this informative session.

Fast EGFR Testing in Cytopathology: A Practical Implementation Experience

Join Dr. Ruiz-Cordero, Associate Professor and Director of Cytopathology at the University of Miami, as he presents results from the prospective FACILITATE study exploring how Idylla™ can complement NGS for EGFR testing in lung cancer tissue and cytology samples with minimal sample input. Learn how fast molecular testing can help rescue Quantity Non Sufficient (QNS) NGS cases, reduce turnaround time and accelerate decisions. Dr. Ruiz-Cordero will also share practical insights into real-world implementation in the cytopathology lab. (Idylla™ EGFR Mutation Assay is for Research Use Only (RUO), not for use in diagnostic procedures.)

Biodesix & New Approaches to Comprehensive Molecular Testing: Focus on Accurate Results with Rapid Turn-around, High-throughput and Low Sample Requirements for Diagnosis and Monitoring

Recent advances in laboratory testing have been focused on molecular readouts as key technologies. Biodesix assembled a panel of subject matter experts, from both academia and industry, who will share clinically relevant studies to demonstrate how advances in turn-around time to results, increased throughput, and maximized sample use are driving new test development and utility in the laboratory.
Our focus will be on newer approaches integrating NGS, ddPCR, and Mass Spectrometry. Studies will include clinical diagnostic utility, as well as advanced research concepts in monitoring therapeutic response.

Implementing Droplet Digital PCR (ddPCR) in the Lab: Practical Strategies for MRD and Monitoring

Digital Droplet PCR (ddPCR) technology offers precise and highly sensitive detection of rare genetic variants in a quantitative manner. With fast turnaround times, lower costs, and streamlined workflows, ddPCR has become a valuable tool for circulating tumor DNA (ctDNA) analysis. The technology has played a crucial role in development of ctDNA assays for personalized treatment strategies, minimal residual disease (MRD) detection, and longitudinal monitoring of disease progression and relapse. In this workshop session, experts from both academic and commercial laboratories will explore the utility of ddPCR liquid biopsy assays across various cancer types and stages. They will also discuss the practical implementation of these assays in clinical research. Additionally, the session will highlight the diverse range of ddPCR platforms and solutions available for oncology applications.

Advancing Targeted Sequencing for Clinical Research Using Automated Enrichment Directly on the Flow Cell

Targeted sequencing remains essential in translational and clinical research, but conventional hybrid capture workflows are hindered by long hands-on time, complex reagent handling, and enrichment bias. We present a novel, automated method for targeted enrichment performed directly on the sequencing flow cell, eliminating upfront capture, amplification, and cleanup steps.
This workshop will compare the performance of on-flow cell enrichment to traditional hybrid capture across multiple sequencing platforms. Results highlight faster time-to-results, fewer manual steps, and improved reproducibility. In addition, higher library complexity and more uniform coverage is observed, enhancing variant detection accuracy. Implementation data from an active user site will also be shared, including comparisons to existing pipelines and considerations for technology adoption.

Robust Comprehensive Genomic Profiling of Cancer FFPE Samples Using the QIAseq xHYB Trinity CGP DNA Workflow on the Element Biosciences Trinity Flow Cell

Comprehensive Genomic Profiling (CGP) using hybrid capture is increasingly becoming a cornerstone of precision medicine, enabling the simultaneous detection of multiple classes of genomic alterations in a single assay. In this study, we characterize FFPE samples from breast cancer patients using a Sample to Insight workflow involving the QIAseq xHYB Trinity CGP panel, CLC Genomics Workbench and QCI Interpret. We demonstrate how the workflow offers a streamlined, rapid and highly informative approach to comprehensive genomic profiling.

Molecular Residual Disease (MRD): The Current Landscape, Key Challenges, and Future Opportunities

Join Foundation Medicine and key industry experts for a presentation and panel discussion on molecular residual disease (MRD). MRD has the potential to transform drug development and treatment in early and late-stage cancers. This session will highlight MRD’s implications for clinical trial enrollment, treatment response monitoring (TRM), and clinical decision-making, as well as introduce Foundation Medicine’s tissue-informed MRD assay.

The panel will bring together biopharmaceutical, clinical, and diagnostic industry leaders for a discussion on the utility of MRD for the biopharmaceutical field. It will address the following topics:
• Current and future landscape for the solid tumor MRD field
• Considerations when deciding on an MRD solution
• What is needed to move the field toward clinical adoption

Revealing the Value of Literature-Based Real-World Evidence: Transforming Trial Design, Label Expansion, and Clinical Decision-Making

Real-world evidence (RWE) from published clinical literature offers a powerful yet underutilized lens into patient outcomes, therapeutic response, and biomarker discovery. This workshop will highlight how literature-based RWE augments traditional real-world data by uncovering patient- and variant-specific insights across thousands of publications. We will demonstrate its value in pharma for optimizing trial design, informing label expansion, and deepening disease understanding, illustrated by oncology case studies. In parallel, we will show how clinicians use expertly curated evidence in the Cancer Knowledgebase (CKB) to identify treatment options and relevant trials. We will cover a number of case studies where we spotlight how integrating curated literature-based RWE—spanning variant evidence, efficacy data, guidelines, patient characteristics, and trial criteria—refines patient stratification and enables more precise therapeutic decisions in precision oncology.

Expanding Therapeutic Strategies Through Optimized Assay Design and Reporting

Oncology testing continues to advance, driven by emerging scientific insights and the need to align with evolving clinical guidelines. This session will discuss the value of driving improved actionability through the optimized delivery of guideline-based assays for biomarker evaluation in both solid tumors and hematologic malignancies—from design to final reporting. We will examine key considerations in target selection and reporting that help support broader treatment options and more personalized therapeutic strategies.

Maximizing Clinical Utility to Inform Diagnosis of CNS Tumors

This collaborative presentation showcases the groundbreaking partnership between Belay Diagnostics and GenomOncology, featuring Summit™—the only purpose-built liquid biopsy test analyzing tumor-derived DNA in cerebrospinal fluid with integrated genomic reporting.

Honey V. Reddi, PhD, FACMG (Belay) and Matthew Stachowiak, PhD (GenomOncology) will present real-world patient cases demonstrating how CSF liquid biopsies revolutionize CNS tumor management. Attendees will discover Summit's clinical validity across metastatic brain cancers, gliomas, GBMs, medulloblastomas, and astrocytomas, learning how this technology provides a minimally invasive alternative to conventional cytology, imaging, and brain biopsies.
The session covers tumor detection, classification, disease monitoring, and treatment selection, with interactive clinical application discussions and exploration of future diagnostic directions in neuro-oncology and genomic reporting.

The Value of Internalizing CGP NGS Testing for a Community Oncology Practice: A Panel Discussion

As CGP testing rates increase, community oncology practices are choosing to implement in-house testing. Many factors influence their decision on a suitable solution including, but not limited to panel content and attributes, oncologists’ preferences, lab expertise, and regulatory and reimbursement requirements.

An expert panel discussion with a community-based pathologist, oncologist, and laboratory director will address:
1. Parameters for consideration in assay selection (IVD vs LDT, RNA + DNA content, ease of implementation)
2. Implementation data, process and feedback from one community site’s experience with the FDA-approved TruSight™ Oncology Comprehensive
3. Value to network oncologists and patients

New Paradigms for Diagnosis of CNS tumors, Sarcomas, and Kidney Tumors Utilizing AI-driven DNA Methylations Classifiers

DNA methylation is becoming an indispensable part of solid tumor diagnostics. Epigenetic signatures analyzed using AI and machine learning algorithms provide molecular diagnostic tools which overcome routine pathology inaccuracies.?Precise molecular diagnosis and prognostic subclassification guides clinical decision from early in the workup process by decreasing diagnostic uncertainty and errors. Matija Snuderl and Kyung Park of NYU Langone Medical Center share their work developing and implementing DNA methylation-based classification of tumors and integration with other molecular tests.

Demystifying MRD with BloodPac: Navigating Clinical and Technical Pathways for Comprehensive Cancer Monitoring

Minimal Residual Disease (MRD) testing is transforming cancer care, yet significant variability remains across technologies, indications, and clinical integration. This panel brings together experts from both industry and clinic to demystify MRD testing, discuss emerging best practices, and provide guidance on clinical and technical considerations. The session will explore indication-specific requirements, the emerging value of whole genome sequencing (WGS)-based MRD approaches, and the evolving debate between tissue-informed and tissue-agnostic strategies. Attendees will gain practical insights into optimizing MRD testing workflows to enhance patient outcomes, while aligning with regulatory, scientific, and clinical standards.?

From Routine Use to Novel Biomarker Discovery: Leveraging Purpose-Built NGS Assays for Consistent Detection of Complex Variants

Today’s biomarker landscape demands more than standard approaches. Join us to explore IDT’s Archer® VARIANTPlex® and FUSIONPlex® assays, powered by AMP™ chemistry and advanced Archer Analysis algorithms. Learn how these tools help labs detect low-frequency SNVs, indels, CNVs, and gene fusions in solid tumors, hematologic malignancies, and liquid biopsies. We’ll also highlight xGen™ hybridization capture panels, which push the boundaries of exome sequencing and rare variant detection, even in challenging cancer samples. This session will equip you to extract deeper insights with greater efficiency and confidence.

Charting Residual Disease: From Molecular Markers to Liquid Biopsies

This workshop explores the expanding role of NGS-based measurable residual disease (MRD) testing across hematologic malignancies. The first presentation will highlight findings from a recent methods paper optimizing IGH NGS for detecting MRD in plasma cfDNA, followed by preliminary insights from a pilot study investigating plasma cfDNA clonality in NHL post-CAR-T and bone marrow transplant. The second speaker will discuss research studies using ultra-deep NGS-based tracking of FLT3-ITD and NPM1 mutations, including emerging data on the prognostic significance of MRD assessment in the peripheral blood of AML subjects undergoing bone marrow transplant in first complete remission. Join us to discuss advanced strategies for non-invasive disease monitoring.

Expanding Access to CGP: Bridging Gaps and Facilitating Integration to Reach More Patients

Comprehensive Genomic Profiling is a cornerstone of precision medicine, access remains uneven across patient populations, particularly underserved areas. This workshop will feature a panel of subject matter experts from across the industry who will share insights on expanding accessibility to CGP testing.  Explore the real-world barriers that limit access to comprehensive genomic profiling - such as geographic disparities, gaps in infrastructure, and the cost of testing. The session will also highlight emerging solutions such as integration with electronic medical records (EMRs) and adoption of scalable technologies to facilitate integration of this testing practice into routine clinical workflows. Attendees will gain insight into tools and digital strategies that help bridge testing gaps and enable broader, more equitable access to increased genomic insights to help improve outcomes.

MRD’s Next Decade: Improving Accuracy and Precision of Tumor-Informed MRD to Standardizing Epigenetics and Fragmentomics for Tumor Agnostic MRD

Molecular Residual Disease (MRD) surveillance continues to improve the lives of patients by providing actionable feedback weeks to months faster than that of legacy biomarkers such as imaging tests. This session is a roundtable discussion about the best practices in analytic validation of MRD assays with members of the scientific community representing assay developers, clinical testing laboratories, and reference standard providers focusing on best practices and concerns for analytic validation of tumor-informed assays and tumor agnostic assays

Breaking the Ice: Bringing Molecular Diagnostics Tests Beyond the Cold Chain

In a world increasingly driven by the need for sustainability, this workshop will highlight Meridian’s latest advancements in nucleic acid analysis technologies—enabled by ambient-temperature stabilization—reducing cold-chain dependence, cut environmental and logistical costs, and improve access to molecular testing. We’ll showcase our flexible stabilization formats, including air-drying, lyophilization-ready, and liquid ambient-stable, and their compatibility with key diagnostic technologies such as qPCR, LAMP, and emerging workflows like NGS library preparation. Designed for point-of-care and high-throughput platforms, these solutions support the development of stable and robust tests. A special focus will be placed on demonstrating consistency post-stabilization, emphasizing liquid-stabilized formats.

Practical Considerations for Molecular Pathologists: Navigating Tissue-Informed MRD Testing with Signatera

Molecular residual disease (MRD) testing is transforming oncology by enabling treatment monitoring and early recurrence detection. This corporate workshop focuses on the molecular pathologist’s critical role in the successful send-out and implementation of tissue-informed MRD testing with Signatera. We’ll cover essential pre-analytical and analytical factors, including tumor tissue selection, sample quality requirements, and pathology coordination. Real-world challenges—such as tissue adequacy, FFPE block logistics, and clinical workflow integration—will be addressed. Case-based discussions will illustrate best practices for preserving sample integrity and maximizing clinical utility. This workshop is designed for both molecular and non-molecular pathologists and will offer practical insights for embedding MRD testing into routine operations amid the era of personalized oncology.

Harnessing NGS-based MRD detection: Insights from a Retrospective AML Cohort Study

The emergence of NGS-based MRD technologies offers a significant advantage over existing approaches in hemato-oncology, simultaneously providing lower detection limits and deeper genomic insights.

Hear from Dr. Sean Glenn, Roswell Park Cancer Institute, as he shares his insights using the SureSeq™ Myeloid MRD Panel* in a retrospective cohort study of research specimens collected from patients undergoing AML treatment.

Attendees will learn about the ability of the SureSeq Myeloid MRD Panel to assess residual disease signals as compared to other existing technologies in the field and how targeted NGS-based panels, combined with optimized bioinformatic analysis, can enhance our understanding of AML MRD.

*Research Use Only; Not for Use in Diagnostic Procedures

Oxford Nanopore Technologies: Revolutionizing Oncology with Comprehensive Multiomic Sequencing Solutions

Join Oxford Nanopore Technologies to explore how real-time, direct DNA sequencing is transforming oncology and clinical research. The session will feature two pioneering applications of nanopore technology in oncology. Areeba Patel will discuss rapid, comprehensive molecular profiling of CNS tumors using methylation-based nanopore sequencing, showcasing its potential for clinical implementation. Francisco Marchi will present the Acute Leukemia Methylome Atlas, built from over 3,000 leukemia samples, demonstrating how long read nanopore sequencing and machine learning can predict AML subtypes and patient outcomes with remarkable accuracy. Together, these talks highlight how nanopore sequencing is redefining precision oncology with speed, flexibility, and multiomic depth.

Oxford Nanopore Technologies: Unlocking Hidden Genomic Regions for Rare Disease Research

Join us on Corporate Workshop Day to discover how Oxford Nanopore's long-read sequencing is revolutionizing whole genome analysis and rare disease research. First, Scott Hickey from Oxford Nanopore Technologies will demonstrate the performance and utility of any read length nanopore sequencing in identifying challenging medically relevant genes including D4Z4/ DUX4 in FSHD samples. Next, Brian Haynes of Bio-Techne will describe how Asuragen's Carrier Plus assay leverages nanopore sequencing to provide a single, flexible workflow for richer insights in high prevalence carrier screening. Join this Corporate Workshop session to explore innovations reshaping precision medicine and rare disease research.

Rapid Detection of Actionable Biomarkers In Liquid Biopsy from Non-Small Cell Lung Cancer and Breast Cancer Using Targeted NGS-Based Assays

Liquid biopsy (LBx) testing has become an important tool to help inform the timely management and monitoring of cancer patients. Molecular laboratories are now looking to leverage existing in-house low to mid throughput NGS platforms and capabilities to provide this important testing for their referring clinicians, enabling more timely, efficient and cost-effective care. In this workshop we will: 1) Review the importance and role of localized LBx testing to support Biopharma's efforts to improve access to novel precision therapies and clinical trials. 2) Review the evaluation and clinical validation of a targeted, amplicon based NGS liquid biopsy panel by a leading academic medical center to help rapidly and efficiently identify clinically actionable biomarkers in NSCLC and Breast Cancer.

Laboratory Validation of Pillar’s oncoReveal® Myeloid Panel on the Illumina MiSeq i100 to Deliver Rapid Front-Line NGS for Heme Malignancies

To help deliver on the promise of precision medicine in oncology, clinical laboratories are looking to more efficiently and effectively deliver rapid, localized next-generation sequencing (NGS) testing to their referring physicians. By decreasing assay turnaround times (TAT) for cancer patients from weeks to just a few days, treatment strategies can be accelerated, and outcomes can potentially be improved. To-date, however, this has been challenged by the historical speed, efficiency and overall costs of performing NGS testing in-house. This workshop will be reviewing the evaluation, clinical validation and implementation of Pillar Biosciences oncoReveal (RUO) NGS panels on the new Illumina MiSeq i100 by a leading academic medical center to successfully deliver simple, rapid, front-line NGS testing for myeloid neoplasms.

Accelerating Precision Medicine with Rapid Front-Line NGS

Speed to NGS results is becoming increasingly important to support oncology clinical care. During this workshop, we will review the clinical need for rapid, front-line NGS sequencing, and how a unique, purpose-built targeted NGS panel (Pillar Biosciences oncoReveal® Nexus 21 gene Panel) was developed, validated and implemented clinically by Memorial Sloan Kettering Cancer Center (MSK-REACT) to complement their current comprehensive genomic profiling (CGP) approach. We will also review data supporting the use of the Illumina MiSeq i100 and Hamilton NGS STAR to further decrease overall NGS turnaround-time.

Redefining Tumor Profiling: An Innovative, Non-Invasive Approach to cfDNA Biomarker Integration from Plasma and Urine Using Advanced Bioinformatics 

Circulating cell-free DNA (cfDNA) profiling from blood plasma has significant potential for clinical application in breast cancer. However, exploration into urinary cfDNA has been limited. In a previous pilot study of plasma-derived and matching urinary cfDNA samples obtained from 15 presurgical triple-negative breast cancer patients, we found that plasma and urine may be complementary liquid biopsy samples for molecular profiling of tumors by targeted sequencing. Here, we present insights from a further expanded study with a larger patient cohort, demonstrating the utility of urine as a key liquid biopsy sample for cfDNA biomarker identification through targeted sequencing. Comparative data from plasma samples will also be presented, highlighting how both urine and plasma can be used in tandem in cfDNA biomarker detection studies

Liquid Biopsy at Scale: Clinical Evidence for Next-Generation CGP

Liquid biopsy is transforming precision oncology by delivering faster, more comprehensive
insights. In this session, NeoGenomics will share clinical and technical perspectives on the
PanTracer LBx assay, a new blood-based comprehensive genomic profiling test.
Dr. Sugganth Pillei will present a patient case illustrating RET fusion detection and therapy
impact, discussing PanTracer LBx capabilities and workflow integration with QCI Interpret
One to deliver expert interpretation and oncologist-ready reports. Early results from 340
patients highlight detection rates, actionable findings, concordance and scalability for clinical
use. Dr. Ryan Bender will discuss technical innovations, including AMP library
preparation, soft-clipped read analysis, semiconductor sequencing and VAF monitoring.

RAS is Back

This presentation will explore the many implications to testing for RAS in a Pan- tumor setting. Discussion will include the expanding role of RAS in tumor profiling, the potential for actionability of RAS, RAS prevalence, the importance of understanding the urgency with which to get a RAS Status where this was once seen as "untreatable" as well how the pathologist can act to make a difference.

Purposeful Partnerships in Diagnostics: From Risk Reduction to Scalable Innovation

Successful diagnostic assay development and manufacturing relies on strong partnerships rooted in quality, reliability, and a spirit of collaboration. Join R&D, Operations, and Quality leaders from Asuragen for a practical panel discussion on selecting the right contract manufacturing and raw material partners. Learn how to define key selection criteria, engage suppliers early, and collaborate to reduce business and technical risk. Gain insights into aligning supplier capabilities with sustainability goals and ensuring consistent product quality. This session provides actionable guidance for assay developers looking to build resilient, compliant, and innovation-ready partnerships across the diagnostic lifecycle.

Panel presentation and discussion between a Medical Oncologist, Pulmonologist and Molecular Pathologist to:
-Understand patient populations affected by MET aberrations
-Identify and discuss different types of MET aberrations in NSCLC
-Explore therapy decisions related to MET aberrations
-Discuss various testing methodologies for MET aberrations
-Understand MET protein overexpression as a test and a target for therapy

Sequencing by Expansion (SBX), a Versatile, High-Throughput Single-Molecule Sequencing Technology for a Variety of Applications

This workshop will present how Roche’s sequencing by expansion (SBX) technology can enable Oncology research with its high accuracy and sensitivity. In the first presentation, Dr Edwin Cuppen will present on Hartwig Medical Foundation’s experiences with SBX, including in-depth data analyses of paired tumor-normal Whole-genome sequencing (WGS) and logistics of the workflow which is different from other technologies. WGS is rapidly advancing as an important technique in oncology research, offering a scalable solution for comprehensive genomic profiling and generating rich datasets for future applications in clinical development, translational research, and understanding tumorigenesis. In the second presentation, Dr Mahdi Golkaram will discuss SBX duplex methylation (SBX-DM) sequencing, which improves SNP error correction, enables high-throughput cfDNA WGS, and integrates methylation detection for enhanced MRD signal sensitivity.

Optimizing Genomic Profiling in NSCLC: A Staged, Multimodal Approach

Comprehensive genomic profiling (CGP) is revolutionizing precision oncology by identifying a broad range of actionable alterations in non-small cell lung cancer (NSCLC), including complex signatures like TMB and HRD. In tissue-limited or time-sensitive cases, a staged testing strategy is critical. This workshop highlights findings from the DelPHI 2.0 collaboration between Protean BioDiagnostics and Roche Diagnostics that evaluated integrating digital PCR (dPCR), Immunohistochemistry (IHC), and CGP workflows. Centered on CGP, this multimodal approach uses rapid dPCR and IHC to quickly detect key driver mutations and protein biomarkers—enhancing efficiency while conserving CGP’s full analytical capacity. Data from an NSCLC cohort demonstrate how this strategy shortens turnaround, reduces costs, and applies CGP where it adds the greatest value, delivering comprehensive insights.

New Frontiers in HRD Testing with a Novel Pan-Tumor HRD Signature

This session will highlight biological insights and potential implications revealed by HRDsig across tumor types, including ovary, breast, pancreas, prostate, lung, and tumor-agnostic settings. HRDsig is a machine learning–based genomic scar biomarker that quantifies genome-wide copy number features to detect homologous recombination deficiency (HRD) across tumor types. By capturing the downstream genomic consequences of somatic or germline homologous recombination repair (HRR) gene alterations and epigenetic silencing events, HRDsig identifies HRD in both HRR-mutated and wild-type tumors. Retrospective pan-cancer analytical validation analyses demonstrated high sensitivity, specificity, and reproducibility across diverse samples, including those of borderline quality. HRDsig score has been evaluated in more than 500,000 samples and has been shown to increase both sensitivity and specificity for the detection of HRD.

Future-Proof Your Genomics Journey

How do you stay ahead in a field that evolves faster than ever? Building on real-world experience from Sectra and Center for Personalized Diagnostics at Penn Medicine, this session explores how modern genomics software helps labs navigate complexity, adapt to change, and unlock new clinical possibilities. Get a glimpse into the future of molecular diagnostics—where integration, insight, and innovation meet.

Elevating CGP with Agile Solutions: The New MSK-IMPACT® Flex powered with SOPHiA DDM™

Traditional genomic analysis often requires sequential testing or a “one-size-fits-all” comprehensive genomic profiling (CGP) panel, leading to time-consuming workflows and increased costs. The new MSK-IMPACT® Flex powered with SOPHiA DDM™ solution offers a modular, end-to-end CGP approach based on the expertly designed content of MSK-IMPACT®, enabling agile analysis and high-resolution profiling of complex biomarkers (including TMB, MSI, and HRD) from DNA, RNA, and shallow whole genome sequencing.

In this session, you will: explore how this modular CGP approach improves lab efficiency and cost-effectiveness; hear experiences from an early adopter (speaker to be announced); learn how SOPHiA GENETICS’ proprietary RNA technology enhances detection of fusion,?exon-skipping events and gene expression across solid tumors.

Redefining Precision Oncology with MSK-ACCESS® powered with SOPHiA DDM™?

Liquid biopsy is revolutionizing precision medicine by offering a non-invasive alternative to traditional tumor biopsies. While its potential continues to grow, global adoption remains limited due to technical and access-related barriers.

In a partnership with AstraZeneca, SOPHiA GENETICS is expanding access to liquid biopsy testing through MSK-ACCESS® powered with SOPHiA DDM™, a best-in-class and decentralized NGS-based assay.

Join this workshop to: Discover how the SOPHiA GENETICS decentralized approach and advanced analytics, supported by large-scale evidence generation studies, enable patient access and robust results; Learn about the clinical impact and utility of MSK-ACCESS® powered with SOPHiA DDM™ in improving outcomes for cancer patients; Explore how decentralized strategies support late-stage pharmaceutical development and drive commercial success in precision medicine.

Behind Every Sample: A Sepsis Survivor’s Story and the Role of the Lab

Sepsis can strike without warning. And when it does, every second counts. Join us to hear a sepsis survivor share her journey from early subtle symptoms to septic shock, emergency surgery and months of recovery. She will reflect on the fear, uncertainty and hope that shaped her experience. Chris Connelly, Director of Business Segment – Molecular at Streck, will then lead a conversation with the survivor, exploring what her experience teaches about the patient perspective and how labs and clinicians can use these insights to support timely, life-saving care.

Harnessing Automated NGS for Myeloid Genomic Profiling and T-cell Clonality Detection

This workshop will examine how next day automated NGS technology is being leveraged to
accelerate genomic profiling in myeloid malignancies research—helping to support timely
insights. The workshop will also highlight the use of the Oncomine™ TCR Pan-Clonality
Assay for evaluating immune repertoires in T-cell lymphoma samples, with applications in
clonality assessment and detection of measurable residual disease (MRD). Discussions
will emphasize how these approaches align with current testing frameworks and expand
the utility of NGS in hematologic research.

Exploring EGFR Exon 20 Insertions in NSCLC and the FDA-approved Oncomine Dx Express Test for CDx and Tumor Profiling

EGFR exon 20 insertions in non-small cell lung cancer (NSCLC) are clinically important but challenging biomarkers to detect rapidly and accurately. Rapid, broad testing is essential to identify these alterations and guide targeted treatment. The Oncomine Dx Express Test is a next?generation sequencing (NGS) in vitro diagnostic (IVD) that delivers results from tissue to report in as little as 24 hours, as a companion diagnostic (CDx) for EGFR exon 20 insertions in NSCLC and tumor profiling across multiple solid tumors. The test detects a broad spectrum of alterations—including heterogeneous EGFR exon 20 insertions—and its automated workflow minimizes hands?on time and bioinformatics burden, enabling adoption in diverse laboratory settings. Hear testing strategies, validation data, and practical implementation of rapid NGS to support timely therapy decisions.

Next-day CGP with the Oncomine Comprehensive Assay Plus on the Genexus System

This workshop features initial experiences with the Oncomine Comprehensive Assay Plus
on the Genexus System for next-day comprehensive genomic profiling (CGP) results. This
complete, end-to-end CGP solution detects a broad range of genomic alterations across
517 genes, including single-nucleotide variants (SNVs), insertions and deletions (indels),
copy number variations (CNVs), and fusions. Additionally, the assay detects genomic
signatures such as homologous recombination deficiency (HRD), tumor mutational burden
(TMB), and microsatellite instability (MSI). Hear how labs can benefit from this easy,
automated, and complete solution.

Unlocking the Power of Pharmacogenomics: Clinical Validity and Impact in Oncology

Join Dr. Peter H. O'Donnell from University of Chicago for an engaging workshop on the transformative role of pharmacogenomics (PGx) in oncology. Explore how questions of clinical validity of PGx can be investigated through clinical trials focused on patient outcomes and the net-effect of personalized medicine in cancer treatment. This session will delve into the importance of PGx in optimizing therapeutic strategies, reducing adverse drug reactions, and improving patient care. Ideal for clinical labs and healthcare professionals, this workshop offers valuable insights into the future of oncology and the critical role of PGx in advancing precision medicine. Don't miss this opportunity to enhance your understanding and application of PGx in oncology.

High-Sensitivity Multiplex Digital PCR Panels for Liquid Biopsy Applications in Oncology Research

Sensitive detection of actionable variants is essential to help potentially monitor disease and inform decisions. We present new data on multiplex digital PCR assays designed for circulating tumor DNA, enabling detection down to 0.1% variant allele frequency. Targets include ESR1, BRAF, PIK3CA, EGFR, and KRAS, key research biomarkers for therapy selection and resistance monitoring. Performance data will be shared for ESR1 and BRAF assays, highlighting analytical sensitivity and workflow compatibility. This workshop will discuss how multiplex dPCR can complement existing sequencing approaches, providing rapid and cost-effective solutions for molecular pathology research laboratories.

Optimizing Molecular Cytogenetic Workflows: Chemistry and Automation for Enhanced Scalability and Versatility for Industry Labs

Sensitive detection of actionable variants is essential to help potentially monitor disease and inform decisions. We present new data on multiplex digital PCR assays designed for circulating tumor DNA, enabling detection down to 0.1% variant allele frequency. Targets include ESR1, BRAF, PIK3CA, EGFR, and KRAS, key research biomarkers for therapy selection and resistance monitoring. Performance data will be shared for ESR1 and BRAF assays, highlighting analytical sensitivity and workflow compatibility. This workshop will discuss how multiplex dPCR can complement existing sequencing approaches, providing rapid and cost-effective solutions for molecular pathology research laboratories.

Advancing Cancer Research with Next-Generation Sequencing

Next-generation sequencing (NGS) has revolutionized cancer research and clinical oncology through comprehensive molecular tumor characterization. This presentation explores three transformative NGS applications reshaping cancer diagnostics and monitoring. Custom panels enable targeted, cost-effective sequencing of clinically relevant mutations, providing actionable insights for personalized treatment. Liquid biopsy approaches utilize cell-free DNA and circulating tumor cells for non-invasive cancer detection, real-time treatment monitoring, and early resistance identification. Methylation profiling leverages epigenetic signatures to improve tumor classification, identify tissue of origin, and detect early-stage cancers when most treatable. Together, these NGS-based technologies accelerate precision oncology, improve patient outcomes, and open new avenues for understanding cancer biology.

Enabling Precision Oncology with Ultra-Deep Whole-genome Sequencing and Integrated Methylation Profiling of cfDNA

Speakers

Elena Helman, PhD
VP, Oncology
Ultima Genomics

Trevor Pugh, PhD
Director of the Genomics Program and Senior Investigator at the Ontario Institute for Cancer Research(OICR), and a professor in the Department of Medical Biophysics at the University of Toronto
Talk title: Ultra-deep whole-genome sequencing of cell-free DNA recovers bone marrow-derived mutations in newly diagnosed multiple myeloma

Streamlining Clinical Genomics Workflows: Accelerated Case Review Across Germline and Somatic Indications

The effective utilization of NGS testing in clinical diagnostics requires flexible and comprehensive software solutions that can reliably support multiple testing indications. Velsera’s assay and sequencer agnostic CGW Plus platform is an adaptive, workflow-optimized tertiary analysis and reporting solution designed to consolidate case review across solid tumor, hematologic malignancy, and now germline testing indications. In this session, we will introduce the expanded capabilities of CGW Plus, highlighting how its intuitive and purpose-built design now supports streamlined case review across multiple testing indications. With robust secondary analysis powered by the industry-leading Velsera Seven Bridges platform, CGW Plus provides a seamless and scalable solution to support laboratories. Gain insight into the platform’s evolving feature set and how it can simplify interpretation and reporting workflows, reducing sample TAT.