Full Name
Ellen McDonagh
Job title
Head of Curation & Pharmacogenomics
University/company
Genomics England
Speaker bio
Dr. McDonagh is the Head of Curation and Pharmacogenomics at Genomics England, where she has helped pioneer the crowdsourcing of expertise for the curation of gene panels for rare disease and cancer. Her team uses PanelApp to integrate this information with additional evidence to produce consensus diagnostic-grade gene panels, which are then used for genome analysis in the 100,000 Genomes Project and the upcoming NHSE Genomic Medicine Service. Dr. McDonagh is also involved in the curation of evidence-based actionable information and pharmacogenetics, dedicated to supporting the use of genomic information and curated evidence for the prediction of drug responses to improve patient safety and therapeutic outcomes. She is an active member of the NHSE-Genomics England Pharmacogenetics Working Group and Clinical Pharmacogenetic Implementation Consortium. Prior to her role at Genomics England, she worked as a Scientific Curator at the Pharmacogenomics Knowledge Base (PharmGKB), Stanford University, California. Her work included the production of clinical guidelines regarding therapeutic recommendations based on a patient’s genotype, the critical assessment of evidence for gene-drug associations, and the publication of genetically associated Pharmacokinetic/Pharmacodynamic pathways. She is on the Science and Industry Advisory Board (SIAB) for ELIXIR-UK and the Steering Committee for The UK Pharmacogenetics and Stratified Medicine Network.
Ellen McDonagh