• Dr. Newman William

CV

Bill is Professor of Translational Genomic Medicine at the University of Manchester and a Consultant in Clinical Genetics at the Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust.

His research focuses on the discovery and characterisation of rare genomic disorders. He has an active research program in the implementation of pharmacogenomics in clinical practice and is the lead of the NHSE Network of Excellence in Pharmacogenomics and Medicines Optimisation.

He is the immediate past President of the European Society of Human Genetics.

ABSTRACT

Pharmacogenetic testing results occasionally need to be available rapidly to inform prescribing decisions. One such scenario is in the neonatal unit when antibiotics are prescribed to prevent or treat sepsis in newborn babies. One in 500 babies carries the mitochondrial (m.1555A>G) variant which increases the risk of profound, irreversible, bilateral hearing loss.

We have worked with Genedrive to develop a robust, easy to use point of care assay from a cheek swab and shown that this can be used in real world practice without disrupting clinical pathways (i.e. delaying the time to antibiotics and allowing safe prescription of an alternative). We are now expanding this work across the UK in a broad implementation program.

In this talk I will discuss the challenges and successes of this implementation and consider next steps.