Professor Sir Peter Donnelly
Professor Sir Peter Donnelly is CEO of Genomics plc and Emeritus Professor of Statistical Science at the University of Oxford where he was Director of the Wellcome Centre for Human Genetics from 2009-2017. Peter was centrally involved in many of the major human genetics projects of the last 20 years. He played a significant role in the International HapMap Project, the successor to the Human Genome Project, later chairing the landmark Wellcome Trust Case Control Consortium (an international collaboration studying the genetics of more than 20 common human diseases in more than 60,000 people). More recently he led the collaboration to sequence the genomes of 500 individuals with a range of conditions to assess whole-genome sequencing in clinical medicine - a study which led to the NHS 100,000 Genomes Project. He also led the genetic work culminating in the genotyping of all 500,000 participants in UK Biobank.
In 2014, Peter and three colleagues founded Genomics plc, with Peter becoming CEO in 2017. Genomics plc is a pioneering healthcare company that aims to transform health through the power of genomics. The company, which now employs over 100 people in the UK and the US, uses an extensive data platform and novel analytical tools in two areas: to understand disease biology and find new drug targets; and to enable a prevention-first approach to healthcare by using its powerful risk prediction tools to get more of the right people into the appropriate screening, diagnosis, and treatment pathways.
In the NHS, genomic testing is currently provided, via the NHS Genomic Medicine Service, as a specialist, standalone service focused on rare diseases and cancers, typically offered to comparably few patients at the end of a diagnostic and treatment odyssey. The approach of genomic prevention is almost the polar opposite. Genomic prevention focuses on common diseases, those affecting millions of people and placing the greatest burden on NHS resources. Unlike genomic medicine, genomic prevention can be used as a first or early step in patient care by GPs and other non-genetic specialists as part of routine, day-to-day practice.
Genomics plc demonstrated this in our recent HEART study in cardiovascular disease prevention, which ran in partnership with the NHS in 12 GP practices in the north of England. Not only was our polygenic risk score (PRS)-powered tool easily incorporated into practice, but it also helped GPs to improve decisions about how to manage and prevent CVD in their patients.
Peter received a knighthood in the 2019 Queen’s Birthday Honours for services to the understanding of human genetics in disease.