Menu
We are thrilled to announce our participation in the ESMO Asia Congress 2024!
Join the SOPHiA GENETICS team at booth #E406 and explore how we are driving groundbreaking innovations in cancer research and treatment.
From our collaboration with Memorial Sloan Kettering cancer Center to decentralize MSK-ACCESS and MSK-IMPACT, to our launch of SOPHiA DDM™ Residual Acute Myeloid (RAM) Solution, we are committed to supporting clinical researchers with variant detection and analysis, biomarker discovery, and therapy selection.
We look forward to connecting with you at ESMO Asia 2024!
9 September 10:00-10:20
Presented by
Alexander Yarunin, PhD
Director, Scientific Affairs for Global Oncology Diagnostics - AstraZeneca
Verena Schramm, MS
VP, Product Management - SOPHiA GENETICS
ADD TO CALENDAR: https://www.addevent.com/event/iz22390572
10 September 2024, 09:30-09:50
Verena Schramm, MS
VP, Product Management - SOPHiA GENETICS
ADD TO CALENDAR: https://evt.to/eegsmihiw
The webinar aims to provide a comprehensive overview of the latest advancements in the clinical management of high-grade ovarian cancer, with a focus on incorporating information regarding homologous recombination deficiency (HRD) and BRCA statuses obtained through decentralized, in-house assays. Four experts in the field — one anatomic pathologist, two medical oncologists, and one biologist — will present selected clinical cases to illustrate the integration of in-house HRD and BRCA status assessment into routine clinical practice.
The speakers will discuss the challenges and benefits associated with the transition from a centralized testing system to a decentralized, in-house assessment, in terms of results reporting, management of indeterminate cases, and communication among involved healthcare professionals.
This webinar will aim to foster interdisciplinary collaboration among oncologists, geneticists, pathologists, and molecular biologists, facilitating a holistic approach to the clinical management of the most deadly gynecological cancer in the promising era of personalized treatments for patients with high-grade ovarian cancer.
Speakers
Xavier Matias-Guiu, MD, PhD
Professor of Pathology
University of Barcelona
Xavier Matias-Guiu is a professor of pathology at the University of Barcelona and Lleida and holds the position of chairman of pathology at Hospital Universitari Arnau de Vilanova de Lleida and Hospital Universitari de Bellvitge. He earned his medical degree from the University of Barcelona in 1981, and his doctorate from the Autonomous University of Barcelona in 1987. Between 1983 and 1986, he trained in Pathology and later became a faculty member at Hospital de Sant Pau from 1988 to 2002. He completed a postdoctoral fellowship in research pathology at New England Medical Center-Tufts University.
Matias-Guiu’s research focuses on the pathology and molecular features of endometrial and ovarian carcinomas. He served as the president of the Spanish Society of Pathology (2019-2021) and has been involved with the European Society of Pathology as a Member of the Council (2015-19), chairman of the Education subcommittee (2021-23), and president-elect (2023- ). He served as the president of the International Society of Gynecologic Pathologists (ISGYP) (2021-2023) and is a member of the World Health Organization (WHO) panel for the Classification of Tumours of the Female Genital Tract (2014, 2020). He also contributed to international guidelines in endometrial cancer and the ESMO guidelines on predictive biomarker testing in OC in 2020.
Beatriz Pardo, MD
Medical Oncologist
Institut Català d’ Oncologia (ICO) L’ Hospitalet
Beatriz Pardo graduated from the University of Barcelona and trained as a medical oncologist at Hospital de Sant Pau de Barcelona in 2001.She has been working as a medical oncologist since 2001 at Institut Català d’ Oncologia (ICO) L’ Hospitalet in Barcelona, and she has more than 20 years of clinical experience in gynecological cancers. She is working in a multidisciplinary group along with specialized oncologists, surgeons, pathologists, and radiologists in this area, continuously improving her knowledge.Pardo has been the principal investigator of several multicenter clinical trials trying to improve standard treatment for patients suffering from this disease and participating in the development of remarkable drugs such as PARP inhibitors or immunotherapy in gyn cancers. In parallel, she is a tutor of medical oncology residents in our Institution, collaborating in their training.
Marta Gil-Martin, MD
Clinical Director of the Phase I Unit
ICO l’Hospitalet
Marta Gil-Martin graduated from the University of Barcelona and trained as a medical oncologist at Institut Català of Oncology (ICO) in L’Hospitalet, Barcelona, Spain. Since then, she has been working in two amazing areas: gynecologic tumors and early drug trials. She has participated as a principal investigator in several trials in ovarian, endometrial, and cervical cancer, participating in the development of drugs such as PARP inhibitors and immunotherapy in endometrial cancer. Since 2022, she is also in the steering board of GEICO, the Spanish Ovarian Cancer Research Group. In parallel, she is the clinical director of the Phase I Unit in ICO l’Hospitalet since 2017.
Sergio Villatoro, PhD
Biologist, Department of Pathological Anatomy
Hospital Universitari de Bellvitge – IDIBELL
Sergio Villatoro is a molecular biologist with experience in the field of human genetics. His activity as a scientist has been characterized by analyzing human genomic variants either polymorphic or pathological. He has been involved in different projects to uncover variants related to neurodevelopmental disorders and in the study of polymorphic structural variants in human populations and their functional and evolutionary consequences.
Going beyond HRR mutations: A deep-learning approach on HRD detection in ovarian cancer
Homologous recombination deficiency (HRD) is an important prognostic and predictive biomarker in ovarian cancer. It is assessed by combining information from homologous recombination repair (HRR) gene mutations, the “cause” of HRD, with a measure of genomic scarring, the “effect” of HRD. However, implementing HRD analysis in-house can be challenging due to technical limitations, such as the requirement for deep genomic profiling data. Deep learning-based approaches that leverage low-pass whole genome sequencing (WGS) can help overcome limitations and maximize insights from raw NGS data for accurate in-house HRD detection.
In this webinar, Dr. Nicola Normanno (Director, Translational Research, National Cancer Institute, Italy Pascale Foundation) presents analytical performance results from an in-house evaluation of HRD status in ovarian cancer samples using the deep learning-based SOPHiA DDM™ HRD Solution.
SOPHiA DDM™ HRD Solution is for research use only, not for use in diagnostic procedures.
SOPHiA GENETICS is collaborating with Memorial Sloan Kettering Cancer Center (MSK) to decentralize their advanced precision oncology tools – MSK-ACCESS® for liquid biopsy and MSK-IMPACT® for comprehensive genomic profiling (CGP). By combining the clinical expertise of MSK in cancer genomics, the predictive algorithms of SOPHiA DDMTM, and the power of the global SOPHiA GENETICS network, experts hope to expand access to precision cancer analysis capabilities worldwide.
Presented by:
Michael F. Berger, PhD, Co-Director, Marie-Josée & Henry R. Kravis Center for Molecular Oncology, Elizabeth and Felix Rohatyn Chair for Junior Faculty
Chloe Ryder, Product Manager at SOPHiA GENETICS
[et_pb_section admin_label="section"] [et_pb_row admin_label="row"] [et_pb_column type="4_4"][et_pb_text admin_label="Text"]Clinical validation of novel RNA fusion detection for NSCLC with SOPHiA DDMTM Dx RNAtarget Oncology Solution
Prof. Alexander Harlé, PhD
Biologist/Professor of liquid biopsy and tumor heterogeneity group, Institut de Cancérologie de Lorraine-Alexis Vautrin
Enabling clinical workflows in Trusted Research Environments
Gaetano Bonifacio, PhD
Industry Advisor-Healthcare, Microsoft
[/et_pb_text][/et_pb_column] [/et_pb_row] [/et_pb_section]What’s New? CE-IVD Oncology Applications by SOPHiA GENETICS™
Alexander Kurze, PhD
Senior Director Product Management, SOPHiA GENETICS
Evaluation of a low-pass whole genome sequencing-based solution for homologous recombination deficiency detection supported by deep learning algorithms
Dr. Adrien Buisson
Praticien Spécialiste des CLCC – UF de Biologie des Tumeurs, Centre Léon Bérard- Cheney
About
Gene fusions are the latest type of biomarker to receive broad applicability in cancer management. More than 10,000 gene fusions have already been identified in human cancers and it is estimated that up to 80% of solid tumors could benefit from gene fusion testing. The number of new drug approvals in fusion-positive cancers has been continuously increasing over the last decade. In parallel, more clinical trials are being rolled out to target fusion-positive cancers, hopefully leading to further improvements in treatment options in the near future.
Given the above, clinical researchers need to consider their need for a high-performance fusion detection solution with the ability to detect novel fusions, while taking into account a range of limitations, such as small input amounts, lengthy workflows, and inconvenient interpretation of the results.
In this symposium presented at the CGC Annual Meeting in St. Louis, Miling Wang, PhD., SOPHiA GENETICS™ Bioinformatics Service Manager will provide information on the importance of fusion detection in solid tumors and how to overcome challenges of somatic RNA variant calling starting from sample input to library preparation to analysis and interpretation.
About
Deficiency in the homologous recombination repair system represent up to 50% of the ovarian, breast, prostate and pancreatic cancers. While Poly ADP-ribose polymerase inhibitors (PARPi) treatment revolutionized management of patients, inducing synthetic lethality in cells with homologous recombination deficiency (HRD), detection of HRD is challenging. Indeed, homologous recombination repair (HRR) genetic testing do not suffice to determine with certainty HRD status and researchers use the indirect genomic instability score to evaluate genomic scars or mutational signatures resulting from HRD. The implementation of methods able to detect HRD is crucial for the identification of patients who could benefit from treatment with PARPi.
In this webinar, Pr. Harlé will share his experience in HRD detection on ovarian cancers using SOPHiA GENETICS deep learning solution.
Therefore, you will have the opportunity to discover:
- Current challenges for the implementation of HRD testing
- The analytical performance evaluation of the Genomic Integrity Index (GII) provided by the SOPHiA DDM HRD Solution
- The concordance of the HRD status obtained by GII with that obtained from standard method
Presenter
Dr. Alexandre Harlé Biologist/Professor of theliquid biopsy and tumour heterogeneity group at Institut de Cancérologie de Lorraine-Alexis Vautrin, Nancy, France
Pr. Harlé earned his doctoral degree in 2014 with a specialization in Oncology and biomarkers from the University of Lorraine, Nancy, France. He is now laboratory head of the liquid biopsy and tumour heterogeneity group and biologist at Institut de Cancérologie de Lorraine-Alexis Vautrin, Nancy, France.
His team has led the development and validation of numerous PCR and NGS assays for the detection of circulating tumour DNA in solid tumours for theragnostic, patient follow-up and minimal residual disease. His group is also involved in the analysis of solid tumours to decipher tumour heterogeneity and genomic instability.
SOPHiA GENETICS products are for Research Use Only and not for use in diagnostic procedures unless specified otherwise.
About
Gene fusions are the latest type of biomarker to receive broad applicability in cancer management. More than 10,000 gene fusions have already been identified in human cancers and it is estimated that up to 80% of solid tumors could benefit from gene fusion testing. The number of new drug approvals in fusion-positive cancers has been continuously increasing over the last decade. In parallel, more clinical trials are being rolled out to target fusion-positive cancers, hopefully leading to further improvements in treatment options in the near future.
Given the above, clinical researchers need to consider their need for a high-performance fusion detection solution with the ability to detect novel fusions, while taking into account a range of limitations, such as small input amounts, lengthy workflows, and inconvenient interpretation of the results.
In this webinar, Dr Boppudi will share her experience of selecting a solution for fusion detection, including her experience with RNAtarget Technology and SOPHiA DDM Platform. Our experts and guests will:
- Present considerations for fusion detection in solid tumor oncology
- Discover the features of various technologies for fusion detection with a focus on next-generation sequencing (NGS)
- Get an overview of the RNAtarget Technology from SOPHiA GENETICS
- Discuss future directions of fusion detection and RNA analyses including calling expression changes and single nucleotide variants (SNVs) in RNA
Presenter
Dr. Sanga Mitra Boppudi Biologist/Molecular pathology lab head at Helios Dr. Horst Schmidt Kliniken Wiesbaden, Institute of Pathology and cytology, Wiesbaden, Germany
Dr Boppudi earned her doctoral degree (PhD in Neurogenetics) from the University Hospital Magdeburg, Otto-von Guericke University, Magdeburg, Germany. In addition, she was also a graduate scholar of Leibniz Institute for Neurobiology, Magdeburg (LGS Synaptogenetics), Germany.
Dr Boppudi has accumulated over a decade of experience with Next generation sequencing (NGS) techniques and technologies since her master’s studies in 2012. She has expertise in a broad range of library preparation, target enrichment and analysis/annotation methodologies, including custom panel design, assay validation and implementation.
In her current role as the Molecular Pathology Lab head she was responsible for establishing the entire NGS workflow from sample input optimization to the results’ reporting.
SOPHiA GENETICS products are for Research Use Only and not for use in diagnostic procedures unless specified otherwise.
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 at [email protected] to obtain the appropriate product information for your country of residence.
All third-party trademarks listed by SOPHiA GENETICS remain the property of their respective owners. Unless specifically identified as such, SOPHiA GENETICS’ use of third-party trademarks does not indicate any relationship, sponsorship, or endorsement between SOPHiA GENETICS and the owners of these trademarks. Any references by SOPHiA GENETICS to third-party trademarks is to identify the corresponding third-party goods and/or services and shall be considered nominative fair use under the trademark law.