The David Blackwell Lecture 2022

About

Professor David Blackwell (1919 – 2010) was a distinguished American statistician and mathematician who made significant contributions to game theory, probability theory, information theory, and Bayesian statistics. He is one of the eponyms of the Rao–Blackwell theorem and became the first African-American elected member of the US National Academy of Sciences. As a Department, we wanted to mark his ground-breaking work and are delighted to hold this annual lecture named after him in October each year.

This lecture will also be livestreamed.

Title

A path to personalised disease prevention: using genomics to predict risk for common diseases

Abstract

It has long been known that genetics is a major risk factor for all the common chronic human diseases, such as heart disease, diabetes, osteoporosis, and the mental health and auto-immune disorders, and for the common cancers, such as breast, prostate, and bowel cancer. For many of these diseases, or in some cases for important subsets of individuals, it is the single most important predictor of disease risk. We now know, from 20 years of human genetics studies, that this risk is polygenic: for any given disease, it is due to the cumulative effects of a very large number of different genetic variants in our DNA, each of individually small impact.  Polygenic risk scores (PRSs) provide a single measure which quantifies the overall impact of these variants. For many diseases the underlying genetic studies are now large enough to provide good information about which variants matter for a particular disease, and their effect sizes, and in parallel we now have large prospective population cohorts, such as UK Biobank, in which to assess and validate predictive power.

The talk will describe our work in Genomics plc on PRSs and their use, typically in combination with non-genetic risk factors, to provide a new level of risk prediction for common diseases, and the path to their adoption in healthcare systems to empower a new generation of risk-stratified, personalised, disease prevention. The identification of individuals at increased risk of disease who are currently invisible to health systems will allow those systems to get more of the right individuals into the appropriate screening, prevention, and treatment pathways. For the individual, this can help to prevent disease entirely or to catch it early, when outcomes are much better; for the health system, it means existing prevention and screening resources are used more efficiently by deploying them on higher-risk individuals; and from a population health point of view, by moving healthcare towards prevention, lives and resources are saved over time.

Bio

Professor Sir Peter Donnelly is a Founder and CEO of Genomics plc and Emeritus Professor of Statistical Science at the University of Oxford where he was formerly Head of the Department of Statistics from 1996-2001 and Director of the Wellcome Centre for Human Genetics from 2007-2017.  Genomics plc is using large-scale genetic data to transform health, healthcare and drug discovery.

Previous Lectures

A list of David Blackwell Lectures can be found here.