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Liquid biopsy is emerging as a revolutionary technology, offering swift and precise diagnostics. It has the potential to significantly impact precision oncology by providing a non-invasive approach for cancer detection, monitoring, and treatment selection. However, liquid biopsy still faces challenges, including workflow standardization and broad adoption across the globe.
Join us for this webinar to learn more about the collaborative efforts of SOPHiA GENETICS, Memorial Sloan Kettering Cancer Center, and AstraZeneca in enhancing global access to and adoption of MSK-ACCESS® powered with SOPHiA DDM™, aimed at addressing disparities in cancer care.
Key topics:
Hosted by: SOPHiA GENETICS
Presented by: Alexandre Harlé
Professor of of Biopathology, Head of Precision Medicine and Translational Research Service, Institut de Cancérologie de Lorraine (ICL), France
As precision oncology advances, clinicians and researchers require solid tumor profiling tools that go beyond traditional approaches. While most next-generation sequencing (NGS) solutions rely on DNA as input, RNA sequencing provides unique molecular insights that can inform decision making, particularly from detecting gene fusions, exon skipping, and changes in gene expression. However, practical barriers such as limited tissue availability, complex workflows, and time-consuming interpretation can challenge laboratories implementing RNA sequencing.
In this webinar, Alexandre Harlé, professor and hospital practitioner, will provide an in-depth look at expertly designed RNA NGS solutions for advanced variant detection from solid tumors, including lung and sarcoma. Harlé will share his experience of co-developing and implementing in-house, sample-to-report solutions that address the current and future needs of the Cancer Institute of Lorraine in Nancy, France.
Learning objectives:
Discover the robust analytical performance of an innovative RNA technology that detects novel (partner-agnostic) gene fusions — even when fusion partners are unknown — as well as exon skipping events and gene expression changes from small input amounts. Explore how decentralized sample-to-report workflows with fully integrated analysis, interpretation, and reporting features help accelerate turnaround times and improve operational efficiency.
Understand the value of combining targeted RNA and DNA insights to capture a more comprehensive molecular picture to support informed decision-making.
Speaker Bio:
Professor Alexandre Harlé leads the Precision Medicine and Translational Research group at the Institut de Cancérologie de Lorraine (ICL), France. His research focuses on integrating RNA sequencing and liquid biopsy approaches to better understand tumor biology and improve patient care. He has contributed to collaborative efforts developing RNA-based signatures, such as GemPred, for predicting chemotherapy response in pancreatic cancer. His team is also involved in national studies exploring circulating tumor DNA (ctDNA) for minimal residual disease detection and longitudinal monitoring. Combining clinical expertise with advanced molecular techniques, Harlé’s work aims to support the implementation of precision oncology in routine practice.
MSK-ACCESS® powered with SOPHiA DDM™ offers an innovative and decentralized solution that combines MSK’s expertise in cancer genomics with the robust analytics of the SOPHiA DDM™ Platform. This application aims to address the global inequalities in comprehensive cancer care.
Watch to hear about the collaborative efforts of SOPHiA GENETICS and AstraZeneca in expanding global access to and adoption of MSK-ACCESS® powered with SOPHiA DDM™. In this session, you will
Dr. Hemad Yasaei, Head of Molecular Genomics, National Reference Laboratory (NRL), Abu Dhabi
Comprehensive genomic profiling (CGP) of solid tumors has become an essential tool in guiding precision medicine approaches. As cancer research advances, clinical laboratories require fast, scalable, and accurate CGP technologies to detect both known and emerging biomarkers with confidence.
Through the decentralized and technology-agnostic SOPHiA DDM™ Platform, institutions worldwide can now benefit from MSK-IMPACT®, Memorial Sloan Kettering Cancer Center’s best-in-class CGP application. This innovative solution leverages matched tumor-normal sequencing to reveal variants of true somatic origin, delivering highly accurate research insights.
Join Dr. Hemad Yasaei, Head of Molecular Genomics at National Reference Laboratory, UAE, as he shares his experience of:
Discover cutting-edge insights with this on-demand session from the ACGH Congress. Dr. Carlos Santamaría, Head of the Molecular Diagnostics Division at the National Children’s Hospital in Costa Rica, shares real-world experiences with exome sequencing in a national pediatric setting. Followed by Dr. Sevana Yaghoubian, Global Director of Genomics at SOPHiA GENETICS, presenting the SOPHiA DDM™ Exome Enhanced Solutions and their impact on clinical decision-making
Speaker:
Cristovam Scapulatempo Neto, MD, PhD - Medical Director of Pathology and Genetics, Diagnósticos da América S.A.
Comprehensive genomic profiling (CGP) is transforming precision oncology by enabling more precise and personalized cancer care. However, as demand for testing grows, many clinical laboratories face significant operational hurdles—from fragmented and rigid analysis workflows to long turnaround times. Decentralized testing enables laboratories to perform large-scale molecular analysis in-house, retain full control of their data, and streamline workflows to accelerate time to results.
In this Inside Precision Medicine webinar, Cristovam Scapulatempo Neto, MD, PhD, will explore how a decentralized, tech-agnostic approach can help laboratories expand their CGP capabilities. Using SOPHiA DDM™ for CGP by SOPHiA GENETICS as an example, he will discuss how this advanced analytical solution, which is designed to be compatible with a wide range of sequencing platforms, helps laboratories streamline processes and scale testing without compromising accuracy. The webinar will provide insights into what the solution offers, including:
Hereditary cancer risk assessment is a rapidly advancing field, driven by the need for comprehensive variant detection, streamlined genomic workflows, and alignment with evolving guidelines. In the UK, testing is delivered through the NHS Genomic Laboratory Hub network, with each lab supporting a broad range of clinical indications under the National Genomic Test Directory. This webinar will highlight the experience of the West Midlands Genomic Laboratory in implementing a next-generation sequencing (NGS) solution for hereditary cancer. The session will detail how transitioning to the SOPHiA DDM™ Platform enabled the lab to improve turnaround, reduce hands-on time, and enhance variant detection. Featuring a practical walkthrough of the SOPHiA DDM™ analysis workflow, the presentation will guide attendees through each stage — from quality control to the identification of challenging variants — concluding with a preview of the new generation of SOPHiA DDM™ platform and a glimpse into the lab’s future plans for continued innovation.
Learning Objectives
As the global healthcare research landscape evolves at lightning speed, we need to change the way we approach healthcare data by breaking down silos, fostering knowledge sharing, and democratizing access to anonymized real-world health insights. And as the volume and complexity of healthcare data continue to grow, the integration of next-generation data analytics and artificial intelligence is reshaping germline variant analysis, offering researchers the tools to uncover actionable insights, streamline processes, and tackle some of the field’s most pressing challenges.
This webcast will explore how to unlock the potential of germline research with cutting-edge advancements in AI-powered workflows, highlighting the New Generation SOPHiA DDM Platform.
Built by users, for users, this AI-powered platform unites healthcare institutions worldwide, paving the way for a future of collective intelligence in precision medicine by streamling sequencing data analysis and interpretation, simplifying variant prioritization, and accelerating reporting.
What will you learn?
Watch on-demand the webinar “Maximizing Efficiency: Implementing an Enhanced Exome Solution Across Multiple Indications”, where Dr. Eirikur Briem, Head of Department of Genetics and Molecular Medicine at the Landspitali University Hospital in Iceland presents his institute’s experience in implementing the SOPHiA DDM™ Enhanced Exome Solutions.
Filmed as part of the Swiss Biotech Day on May 5th 2025.
An engaging panel discussion on the transformative role of AI-powered technology in building scalable, high-performance healthcare solutions. Discover how collaboration drives innovation and advances precision medicine.
Discussion summary:
Artificial intelligence and big data are revolutionizing biotech and healthcare, driving breakthroughs in precision medicine, clinical decision-making, and drug discovery. This panel showcases how adaptive our autonomous AI models enhance decision-making and improve industry performance and productiivity. Additionally, the discussion will emphasize the importance of robust AI infrastructure in creating scalable, high-performance healthcare solutions, while also highlighting the necessity of strong, high-quality data for accurate AI concepts.
Experts will delve into advancements in clinical development productivity, patient data analytics, AI-powered diagnostics, and the agent-based concepts, while also highlighting local initiatives designed to foster collaboration and innovation in healthcare AI.
Moderator:
Panellists:
SOPHiA GENETICS products are for Research Use Only and not for use in diagnostic procedures unless specified otherwise.
SOPHiA DDM™ Dx Hereditary Cancer Solution, SOPHiA DDM™ Dx RNAtarget Oncology Solution and SOPHiA DDM™ Dx Homologous Recombination Deficiency Solution are available as CE-IVD products for In Vitro Diagnostic Use in the European Economic Area (EEA), the United Kingdom and Switzerland. SOPHiA DDM™ Dx Myeloid Solution and SOPHiA DDM™ Dx Solid Tumor Solution are available as CE-IVD products for In Vitro Diagnostic Use in the EEA, the United Kingdom, Switzerland, and Israel. Information about products that may or may not be available in different countries and if applicable, may or may not have received approval or market clearance by a governmental regulatory body for different indications for use. Please contact us to obtain the appropriate product information for your country of residence.
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