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Dr. Arantxa Hervás, CGT Dx Director at Vitrolife Group, shares how her team modernized carrier screening across a global network processing over 1,300 samples per month, moving toward a more harmonized approach to expanded carrier screening (CGT).
She walks through Vitrolife's partnership with SOPHiA GENETICS and adoption of the SOPHiA DDM™ Enhanced Clinical Exome Solution, which cut turnaround time from 21 to 15 days and reduced complementary testing from 11 assays to 4, while strengthening detection of complex variants and CNVs in line with ACMG standards.
Watch the recording for implementation learnings and the outcomes Vitrolife has achieved since unifying its workflow.
Speaker
Dr. Arantxa Hervas Lorente, Ph.D
CGT Dx Director, Vitrolife Group
SOPHiA DDM™ Enhanced Exome Solutions are for Research Use Only (RUO); RUO results must not be used for clinical diagnosis or patient management.
Most hereditary cancer NGS workflows are built to catch SNVs and indels. But copy number variations (CNVs) can be just as clinically significant, and far easier to miss, particularly in genes like PALB2, where large deletions are more common than many realise.
What began as a straightforward hereditary cancer study led somewhere no one expected. Dr. Elena Tenedini (Associate Professor at University Hospital of Modena) and colleagues compared variants from nearly 3,000 patients against published cohorts. When they reached the CNV data, PALB2 emerged as a leading contributor of pathogenic CNVs, driven largely by a recurrent exon 11 deletion clustered in one region of Italy. Collaboration with the University of Florence pointed to a shared, relatively recent origin.
None of this would have surfaced without analysing CNVs and SNVs/indels together. In this on-demand webinar, hosted by Front Line Genomics, Dr. Tenedini shows how her laboratory built a single NGS workflow with the SOPHiA DDM™ Dx Hereditary Cancer Solution, and how integrated analysis uncovers patterns researchers didn't know to look for.
What you'll learn:
Stay for the Q&A
Dr. Tenedini answers audience questions on founder variants in the clinic, follow-up for families with the PALB2 variant, why CNVs are underreported, and the future of hereditary cancer testing, from long-read sequencing to newer reference genomes.
Speakers:
Dr. Elena Tenedini
Associate Professor
University Hospital of Modena
Sevena Yaghoubian, MBA
Senior Director, Genomics
SOPHiA GENETICS
Next-generation sequencing (NGS) has transformed the diagnosis and management of haematologic malignancies, providing increasingly detailed insights into the molecular drivers of disease. However, many workflows continue to rely on single time point genomic assessments, limiting opportunities to leverage sequencing data throughout the patient journey.
In this webcast, Dr Todd Knepper of Moffitt Cancer Center will share lessons from a molecular tumour board and discuss how genomic information can support decision-making beyond initial diagnosis. Drawing on clinical experience and real-world examples, he will explore the role of NGS for risk assessment, monitoring clonal evolution, post-transplant surveillance and the interpretation of complex molecular findings.
He will also examine the challenges posed by clonal haematopoiesis of indeterminate potential (CHIP) and the importance of multidisciplinary approaches to genomic interpretation. Attendees will gain insight into emerging strategies for identifying and monitoring high-risk cases, and how expanded NGS applications might help to integrate precision oncology more effectively into routine haematology practice.
Learn:
Speakers:
Todd Knepper
Associate Member, Precision Oncology
Department of Pathology, Moffitt Cancer Center
Moderator:
Nikki Forrester
Freelance Science Writer and Editor
Large hospitals face a widening gap: guidelines are moving faster than most labs can validate against. And legacy PCR- and FISH-based workflows, however reliable, weren't built to scale to that pace. Prof. Klaus Schmetterer, Head of the Molecular Diagnostics Department, and his team at the Medical University of Vienna, Austria, one of Europe's largest tertiary care centers, are closing that gap.
In this session, Prof. Schmetterer shows how his team unlocked roughly 12 times more genomic coverage, at a comparable cost, without slowing down the turnaround clinicians rely on for treatment decisions. The shift: replacing a patchwork of single-gene and translocation assays with one integrated DNA/RNA NGS workflow, covering 500+ genes and 250+ translocations across both myeloid and lymphoid disease in a single run, powered by automated library preparation and the SOPHiA DDM™ platform's AI-driven variant analysis.
At the conclusion of this session, participants will be able to:
Presenter
Prof. Klaus Schmetterer, MD, PhD, heads the Cytogenetics Diagnostics section and the Molecular Biology in Hemato-Oncology Diagnostics section within the Department of Laboratory Medicine at the Medical University of Vienna (AKH Wien, Austria), roles he holds since 2022 and 2025 respectively. He also holds a tenure-track position at the university since 2021.
His path into hemato-oncology diagnostics began in immunology: he completed his Master's and PhD research in the laboratory of Winfried Pickl, MD, at the Institute of Immunology, Medical University of Vienna, earning his MD in 2010 and his PhD in Molecular Biology in 2011. He joined the Department of Laboratory Medicine in 2012 for his residency and completed it in 2018 as a board-certified specialist in Laboratory Medicine.
From genomic innovation to real-world implementation: exploring the future of liquid biopsy and precision oncology across the Middle East.
The conversation around precision medicine is rapidly evolving. In this on-demand session, leading oncology experts, healthcare decision-makers, pharmaceutical partners, policy representatives, and key opinion leaders come together to explore how liquid biopsy is transforming cancer care delivery and genomic testing strategies across the region.
Watch the full recording to hear expert perspectives, real-world experiences, and practical insights from leading institutions.
What You'll Discover
This high-level discussion explores the evolving role of liquid biopsy in precision oncology and the opportunities to bring advanced genomic testing closer to patients.
Decentralizing precision oncology
Learn how Memorial Sloan Kettering Cancer Center (MSK) and SOPHiA GENETICS collaborated to decentralize MSK’s renowned genomic assay, MSK-ACCESS™, powered with SOPHiA DDM™ for liquid biopsy applications.
From innovation to implementation
Hear real-world perspectives on implementing advanced genomic testing and scaling precision oncology solutions in clinical practice.
Regional insights from the Middle East
Discover how healthcare leaders in the region are approaching innovation, scalability, and the integration of genomic testing into cancer care.
The evolving role of liquid biopsy
Explore how liquid biopsy can contribute to more accessible and actionable genomic testing strategies and support the continued evolution of precision medicine.
Watch the Expert Discussion
Featuring perspectives from leading oncology, genomics, and precision medicine experts from Memorial Sloan Kettering Cancer Center, M42, and SOPHiA GENETICS.
Clonal hematopoiesis of indeterminate potential (CHIP) is an increasingly recognized challenge in liquid biopsy analysis. Somatic variants arising in hematopoietic progenitor cells can appear in cell-free DNA (cfDNA) analyses, mimicking tumor-derived signals and complicating result interpretation. Correctly assigning these variants is critical – both to avoid false tumor calls and to capture CHIP's emerging role as an independent biomarker for cancer risk and outcomes.
MSK-ACCESS® powered with SOPHiA DDM™ incorporates matched white blood cell (WBC) DNA sequencing to systematically distinguish CHIP and germline variants from true tumor-derived signals. In this poster presentation, Florian Klemm shares findings from a multicenter, retrospective study evaluating CHIP detection across different cfDNA analysis approaches in individuals with colorectal, prostate, pancreatic, and breast cancer. This research was conducted in collaboration with Synnovis, UK.
Watch to discover:
Presenter
Florian Klemm, Technical Product Manager Expert Lead, SOPHiA GENETICS, Rolle, Switzerland
Dr. Florian Klemm is a physician-scientist and tumor immunologist with deep expertise in next‑generation sequencing (NGS), liquid biopsy technologies, and translational oncology. As a Technical Product Manager Expert Lead at SOPHiA GENETICS, he drives the product design of decentralized cfDNA NGS solutions. Most notably, he has led the development of MSK‑ACCESS® powered with SOPHiA DDM™ where he led cross‑functional teams spanning assay development, bioinformatics, tertiary annotation, and software.
With more than a decade of research experience across the Ludwig Institute for Cancer Research at the University of Lausanne, Switzerland, Memorial Sloan Kettering Cancer Center, New York, USA and the University of Göttingen, Germany, Florian has an extensive track record applying NGS, multidimensional genomics, spatial tissue analysis, and large‑scale datasets to advance understanding of tumor biology and tumor–immune interactions. His first‑author publication in Cell (2020) highlights his contributions to mapping immune cell states in brain malignancies. He is passionate about bridging clinical insight, high‑throughput technologies, and data‑driven approaches to deliver impactful solutions that improve patient outcomes.
Copy number variants (CNVs) are increasingly recognized as clinically significant biomarkers across a wide range of tumor types, with emerging evidence supporting their role in prognosis, therapeutic stratification, and disease characterization. Despite advances in CGP, accurate CNV detection and interpretation in solid tumors remains challenging, owing to tumor heterogeneity, assay complexity, and inconsistent analytical approaches.
In this webinar, participants will explore current challenges and considerations associated with CNV detection and interpretation in precision oncology research. Through real-world examples and discussion of CGP strategies, the webinar will examine approaches for improving scalability, consistency, and confidence in biomarker characterization.
Join us to gain insight into evolving approaches for CGP and the role of CNV analysis in advancing precision oncology research.
At the conclusion of this session, participants will be able to:
Presenter
Dr. Rami Mahfouz MD, MPH, IFCAP
Professor of Molecular Pathology, Head of Division of Clinical Pathology, Director of Molecular Diagnostics Laboratory, American University of Beirut, Lebanon
Dr. Lina Li, PhD, MBA
Director of Product for Solid Tumors, SOPHiA GENETICS
Evidence-based interpretation of oncogenic variants represents one of the most demanding and time-consuming tasks carried out by clinical laboratories today. The volume of emerging clinical evidence,and the multiplication of evidence sources across fragmented platforms, combined with the need fortimely and accurate reporting, places considerable pressure on laboratory workflows and the professionals who lead them.
In this webinar, Dr. Sara Allegrini, Head of Molecular Pathology at TomaLab, one of the largest genetic laboratories in Italy, examines how the integration of OncoPortal™ Knowledge Base within SOPHiADDM™ has reshaped their approach to oncology variant interpretation. The session draws on Dr.Allegrini's real-world experience to trace the laboratory's workflow evolution, from their previous use of OncoPortal™ Plus as a standalone module to the adoption of a fully integrated solution.
Dr. Allegrini will share first-hand insights into the challenges of evidence-based interpretation at scale,the criteria that guided TomaLab's adoption of OncoPortal™ Knowledge Base, and the impact observedon reporting efficiency and interpretation confidence. The session will also illustrate the value of the platform through concrete case examples, including rare alterations and complex findings where accessto curated, current evidence proved decisive.
At the conclusion of this session, participants will be able to:
Presenter
Dr. Sara Allegrini, Molecular Biologist, Leading the Somatic Molecular Diagnostics Unit at a specialized pathology laboratory
Dr. Sara Allegrini is a molecular biologist and expert in precision oncology, currently leading the Somatic Molecular Diagnostics Unit at a specialized pathology laboratory. With over a decade of experience in molecular diagnostics and cancer genomics, she plays a key role in integrating advanced technologies such as next-generation sequencing into routine clinical practice.
She holds a PhD in Molecular Medicine and a specialization in Clinical Pathology, complemented by a recent advanced Master’s degree in Molecular Pathology and Molecular Tumor Boards. Her expertise spans next-generation sequencing, molecular oncology, and precision medicine, with a strong focus on the interpretation of somatic variants in cancer. Her work focuses on the clinical interpretation of somatic variants and their application in personalized cancer treatment.
She has a strong background in translational research, bridging the gap between laboratory innovation and patient care. She is passionate about advancing precision medicine and improving diagnostic strategies in oncology.
Classification guidelines for myeloid malignancies have undergone more changes in the last three years than in the previous decade. The 2022 WHO and International Consensus Classification updates went beyond adjusting diagnostic thresholds, they fundamentally redefined what constitutes a complete genomic profile, expanding the alterations that need to be detected, the variant types that need to be investigated, and the findings that have direct relevance to treatment decisions and patient monitoring.
For many laboratories, keeping pace with these changes has required the adoption of broad-coverage NGS applications. At Unidade Funcional de Hematologia Molecular, Unidade Local de Saúde de Coimbra, one of Portugal's national reference centers for hemato-oncology, Dr. Margarida Coucelo has led that transition, investigating myeloid malignancies across the full disease spectrum, from chronic conditions such as myeloproliferative neoplasms (MPN) and myelodysplastic syndromes (MDS) through to acute leukemias. That breadth of caseload, combined with the center's role as a referral hub receiving samples from institutions across the country, means that the quality and completeness of every genomic
report carry significant value for clinical teams.
In this webinar, Dr. Coucelo will share that experience through real cases, illustrating how a comprehensive DNA-based NGS approach can contribute to the identification of relevant variants and support discussions around treatment options and risk stratification. Cases will span a range of scenarios, from the detection of rare fusion genes and somatic variants to consolidating germline predisposition testing within a single workflow, to building a more complete picture to guide more robust clinical decisions.
This webinar offers an opportunity to explore how expanded NGS workflows are being applied in a high-volume reference setting, and what that experience may mean for laboratories navigating the evolving landscape of myeloid malignancy testing.
What began at our inaugural forum in 2024 has since taken shape across the field. SOPHiA GENETICS and the Memorial Sloan Kettering Cancer Center (MSK) return to ASCO to convene leading voices in precision oncology, this time with a singular focus: the liquid biopsy revolution.
This forum traces the journey from a pioneering academic-industry collaboration with MSK to a global movement reshaping how cancer is detected, monitored, and treated.
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Speakers:
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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