Speaker 1: Jonathan Dale , PhD student, University of Manchester
Title: Long-Read Pharmacogenetics: Moving from Promise towards Practice
Abstract: Pharmacogenetic testing aims to personalise drug therapy by identifying genetic variants that influence drug response. However, many key pharmacogenes are challenging to characterise due to their location within complex genomic regions and the frequent presence of complex structural variants. Long-Read Sequencing has emerged as a promising approach to overcoming many of these challenges but has historically been limited by high error rates, strict DNA requirements, and expensive specialised workflows. This project aims to evaluate the potential of long-read sequencing in pharmacogenetics within the context of the NHS and to identify the technical and operational barriers that may influence its implementation.
Speaker 2: Wei Jun How, PhD student, University of Manchester
Title: The role of pharmacogenetic testing in obstructive hypertrophic cardiomyopathy
Abstract: Mavacamten is the first-in-class oral cardiac myosin inhibitor used to treat obstructive hypertrophic cardiomyopathy (oHCM). This talk will focus on the diagnostic thresholds for HCM, specific treatments available for the obstructive phenotype (with emphasis on mavacamten), and pharmacogenetic guided dosing in this population. A brief focus will be placed on our local pathway of prescribing and follow up in the Northwest of England.
Speaker 3: Jessica Keen, PhD student, University of Manchester
Title: Implementation of Pharmacogenetic panel testing into Cancer treatment pathways
Abstract: Medicines are one of the main treatment options for cancer, yet toxicity to treatment and uncontrolled cancer symptoms are common and vary widely between individuals and institutions. This can negatively impact patients and health systems through things like unplanned hospital admissions, treatment delays and effects on quality of life. Pharmacogenetic testing represents one possible solution to address the variable toxicity experienced, and single gene testing is already established in UK oncology practice. However, there is limited published evidence surrounding the implementation of pharmacogenetic panel testing in this setting. This PhD will assess the potential value, feasibility and acceptability of using pharmacogenetic panel testing to inform prescribing in cancer treatment pathways, exploring the factors that might contribute to successful implementation