How comprehensive NGS-based pharmacogenomics testing can improve variant detection and support safer, more confident decision-making

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Home breadcrumb-arrow How comprehensive NGS-based pharmacogenomics testing can improve variant detection and support safer, more confident decision-making

Pharmacogenomics has been invaluable in reducing adverse drug reactions, improving dosing accuracy and increasing confidence in treatment selection across high risk and commonly prescribed medications. However, real-world implementation of pharmacogenomics is extremely challenging.

This webinar will use a case study, featuring real-world clinical data, to outline how pharmacogenomics testing through NGS can improve detection of variants, and support safer, more confident decision-making.

Case study

Fluoropyrimidines like 5-FU remain essential in oncology, but patient safety depends on efficient DPD metabolism. Standard genotyping captures only a small subset of DPYD variants, while NGS can uncover broader variability with potential clinical relevance.

In this webinar Dr. Nicolas Picard (University Hospital of Limoges) will present results from an NGS research study of 1,145 patients using the SOPHiA DDM™ Community PGx Solution, highlighting rare variants and CNVs that standard testing may miss - an important consideration following the FDA’s recent boxed warning for capecitabine.

Sevana Yaghoubian will then introduce SOPHiA GENETICS’ new extended PGx application covering 74 genes with star allele detection and integrated HLA and mtDNA analysis.

In this webinar, you will:

  • Develop a better understanding of how comprehensive NGS-based pharmacogenomics testing can improve variant detection and support safer, more confident decision-making.
  • Learn from a recent research study - featuring real-life clinical data - that focuses on enhancing the safety of chemotherapy.
  • Draw lessons from the clinical experience of a world leader in pharmacogenomics testing, Nicolas Picard, from the University Hospital of Limoges in France.
  • Understand how the cutting-edge SOPHiA DDM™ pharmacogenomics technology supports variant detection and analysis workflows.

Speakers

Nicolas Picard, PharmD, PhD, Head of French Speaking Network of Pharmacogenetics (RNPGx), Limoges University Hospital, France

Nicolas Picard is full professor of pharmacology at the Faculty of Pharmacy, University of Limoges (France), and hospital biologist in the Department of pharmacology, toxicology and pharmacovigilance at Limoges University Hospital. A pharmacist since 2002, he obtained his PhD in Pharmacology in 2005. He heads the Department of physiology and pharmacology at the Faculty of Pharmacy, where he teaches fundamental and clinical pharmacology, and is jointly responsible for the molecular genetics unit of the University Hospital, leading its clinical pharmacogenetics section. His research within the Inserm “Pharmacology & Transplantation” Unit has evolved from in vitro studies of drug metabolism and disposition to clinical research, and now focuses primarily on the implementation of pharmacogenetics in transplantation, psychiatry, and geriatrics. He has authored around 100 peer-reviewed publications and currently serves as President of the Francophone Network of Pharmacogenetics (RNPGx) which brings together experts from France, Belgium, Switzerland, Tunisia, and Quebec.

Sevana Yaghoubian, Senior Director of Genomics Product Management, SOPHiA GENETICS

Sevana Yaghoubian has extensive experience in the field of genomics and molecular diagnostics. She is currently a Senior Director of Genomics Product Management at SOPHiA GENETICS, where they lead a team and is responsible for various aspects of product management, marketing, and business development. During her time at SOPHiA GENETICS, she achieved significant growth and successfully launched several new products in the areas of oncology, rare diseases, and precision medicine. Sevana Yaghoubian holds an MSc in Molecular Biology from the University of Toronto.

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Disclaimer notice:
The term SOPHIA used by the speaker refers to SOPHiA GENETICS and its products.
The opinions expressed during this presentation are those of the speakers and may not represent the opinions of SOPHiA GENETICS.
SOPHiA GENETICS does not provide support in the validation of custom products for clinical use.
SOPHiA GENETICS products are for Research Use Only and not for use in diagnostic procedures unless specified otherwise. 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.

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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