ESHG 2026 – Gothenburg, Sweden
Ensuring quality in Pharmacogenomics
Lessons learned and the future of Patient- Centred precision medicine Workshop
Presenters: Jesse Swen & John McDermott
- Sunday 14th June
- 10:00-12:00
- Sequencing Square
Our Posters
Emerging trends of Spinal Muscular Atrophy (SMA) testing: An analysis of five years of External Quality Assessment (EQA)
Author & Affiliations: Shabana Begum, Victoria Williams, Dr Simon Patton
Poster session: P25.049.A
Poster viewing session: Group A (13/06/2026 12:15-13:15) CEST
Learnings from five years of External Quality Assessment (EQA) for Rare Neurological Diseases (RND)
Author & Affilations: Jane Gorman, India Roderick , Victoria Williams and Dr Simon Patton.
Poster session: P21.039.C
Poster viewing session: Group C (14/06/2026 12:45-01:45 pm) CEST
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.
Ensuring quality in genetic testing: insights from 10 years of external quality assessment for phenylketonuria
Authors: Victoria Williams and Dr Simon Patton
Poster viewing session: Available at CCMG & Garrod 2026 Joint Conference
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
