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.

Join us for an enlightening webinar on the evolution of pharmacogenetics, from its historical roots to the impact of groundbreaking innovations and the establishment of specialist foundations. We will explore the introduction of crucial guidelines and annotations that have paved the way for the development of key technologies and solutions in this field. Learn how utilizing next-generation sequencing (NGS) in pharmacogenetics can prevent serious adverse drug reactions and facilitate personalized drug selection and dosing decisions.

Nicolas Picard will share insights into how the French National Network of Pharmacogenetics (RNPGx) is spearheading advancements in pharmacogenetics and how they collaborated with SOPHiA GENETICS to develop a state-of-the-art PGx Solution. Professor Picard will discuss the applications of pharmacogenetics in psychiatry and oncology, presenting practical cases that highlight the real-world impact and value of these advancements.​​

Featured Presenter:​

Nicolas Picard
Professor of Pharmacology, President of RNPGx, Limoges University, France

At SOPHiA GENETICS, we collaborate with genetic experts to develop specialized next-generation sequencing (NGS) applications that seamlessly integrate into any laboratory workflow. In this Webinar our partners share how the analytical technology and dedicated features in the SOPHiA DDM™️ Platform have enabled the accurate detection and streamlined assessment of variants associated with Rare Diseases and Pharmacogenomics.​
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Discover how the SOPHiA DDM™️ Platform seamlessly integrated into routine NGS workflows for Pharmacogenetic analysis.​
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This talk took place at on June 11th in Glasgow, UK at the European Society of Human Genetics (ESHG) Conference 2023.​​

Featured Presenter:​

Robert C. Akkers

Molecular Biologist at Result Laboratorium, Dordrecht, Netherlands

After my PhD at the department for Molecular Biology in Nijmegen, I continued my career as an application specialist genomics (NGS). During this work I got really enthusiastic about the field of molecular diagnostics. After a nice postdoc position at the Department of Genetics in Wageningen I got the chance to pursue my true passion and became a molecular biologist at Result Laboratorium (Clinical Chemistry) and the Department for Pathology in Dordrecht. Besides my role in routine diagnostics I enjoy implementing new techniques and new panels for molecular diagnostics.