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
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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)
Molecular Variant Detection in Non-small Cell Lung Cancer- Internal Validation and External Quality Control
Presenting Author: Ursula Lechowicz
Poster session: P01.127.C
Description of two patients with Prader-Willi syndrome due to a very rare mosaic imprinting defect
Presenting Author: Jasmin Beygo
Poster session: EP15.058
Challenging the use of proxies in genotyping analysis for DPYD and UGT1A1
Presenting Author: Giada Scantamburlo
Our Assessor Vacancies
Molecular Pathology
- Homologous recombination deficiency (HRD) testing
- ESR1 testing in breast cancer cfDNA (plasma)
- Urothelial cell carcinoma (UCC) (FGFR) [Tissue]
- Fusion testing in solid tumour
- Lung Cancer (NSCLC) [Tissue]
- Microsatellite instability (MSI)
- Breast cancer (AKT pathway gene testing (PIK3CA, AKT1, PTEN) [Tissue]
Genomic & Inherited Disorders
- Systemic Autoinflammatory Diseases (SAID)
- Polyposis Syndromes (FAP, MAP)
- Hereditary Endocrine Cancer (HEC) (MEN2)
- Phenylketonuria (PKU)
- Spinal Muscular Atrophy (SMA)
- Osteogenesis imperfecta (OI)
- Huntington disease (HD)
- Skeletal dysplasia
- Neurofibromatosis (NF1, NF2)
- Familial SHOX gene related disorders
- Hereditary Hearing Loss (HHL)
- Lynch syndrome (hereditary non-polyposis colon cancer, HNPCC)
- Hereditary Renal / Kidney Cancer (VHL)
Other Relevant Documents
HGVS Nomenclature 2024: improvements to community engagement, usability, and computability
Lung Cancer (NSCLC) [Tissue] Common Biomakers EQA 2024
2024 External quality assessment (EQA) for Next Generation Sequencing (Germline SNVs and indels) Post-Appeals Final Summary Report
