She is the Scientific and Laboratory Deputy Director of the Genomics Unit, NHS England embedding the National Genomic Medicine Service for rare disease and cancer including whole genome sequencing within the NHS. She was Scientific Advisor and directly involved in the delivery of the 100,000 Genomes Project.
She is a Consultant Clinical Scientist and the Director of Genomics Quality Assessment (GenQA) part of the UK National External Quality Assessment Service (UK NEQAS). The EQA Scheme delivers assessment of the standard of the full clinical genomics testing pathway through 120 different schemes. This includes clinical genetics, molecular genetics, molecular pathology, cytogenomic testing, newborn screening, prenatal diagnosis, preimplantation genetic testing and variant interpretation.
She holds a chair as Professor of Clinical Genomics at the University of Edinburgh and during 2020-21, was Head of Laboratory Validation and Quality Assurance for SARS-CoV-2 testing for mass testing in NHS Test and Trace in the United Kingdom.