ESHG 2026 – Gothenburg, Sweden
Ensuring quality in Pharmacogenomics
Lessons learned and the future of Patient- Centred precision medicine Workshop
- Sunday 14th June
- 10:00-12:00
- Sequencing Square
Presenters: Jesse Swen & Jhon McDermott
Our Posters
Learnings from five years of External Quality Assessment (EQA) for porphyrias
Author & Affiliations: Dr Rachel Taylor, Michael Woodcock, M. Barbaro, M., Friesema, E., Victoria Williams, and Dr Simon Patton
Presenting Author: Dr Rachel Taylor
Poster session: P16.045.D
Poster viewing session: D (26/05/2025 16:00-17:00)
Common causes of genotyping error; Trends over time
Author & Affilations: India Roderick , Dr Weronika Gutowska-Ding , Victoria Williams, Charlie Shaw, Dr Simon Patton,
Presenting Author: India Roderick
Poster session: P16.027.B
Poster viewing session B ( 25/02/2025 16:00-17:00)
Beyond compliance: how external quality assessment drives laboratory improvement over time
Evidence from a longitudinal study of EQA data from genomic testing laboratories
Authors & Affiliations: Dr Weronika Gutowska-Ding, Victoria Williams, Charlotte Shaw, Melanie Cheetham, Dr Simon Patton.
Presenting Author: Dr Weronika Gutowska-Ding
Poster session: P16.045.D
Poster viewing session: A (25/05/2025 13:00-14:00)
External Quality Assessment for Hereditary Amyloidosis: Assuring Test Standards to Support the Identification of Patients Eligible for Treatment
Authors: Izabela Eden, Rachel Taylor, Mario Nuvolone, Jan D.H. Jongbloed, Victoria Williams, Simon Patton, Dorota Rowczenio.
Presenting Author: Iza Eden
Poster session: P16.032.C
Poster viewing session: C (1-2pm 26/02/25)
Our Assessors Vacancies
Molecular Pathology
- Homologous recombination deficiency (HRD) testing
- Fusion (Tissue)
Genomic & Inherited Disorders
- Neurofibromatosis (NF1, NF2)
- Prader-Willi and Angelman Syndromes (PW / AS)
Other Relevant Documents
2025 External Quality Assessment for Next Generation Sequencing (Germline SNVs and indels)
Uptake of DPYD and UGT1A1 testing in Italy and adherence to pharmacogenetic guidelines: A 5-year perspective from an EQA provider
Reference materials and external quality assessment for liquid biopsy assays: Expert opinions from the European Liquid Biopsy Society ctDNA workshop
