Time for genomics to fulfil its promise

Professor Sir Peter Donnelly FRS, FMedSci, Founder & CEO of Genomics plc

Since the first draft of the human genome was completed in the summer of 2000, genomics has come to be associated with diagnosing and treating rare genetic conditions. As important as that has been, I have always felt that by far its greatest impact will be on common, preventable diseases. Conditions, such as cardiovascular disease, diabetes, osteoporosis, and common cancers like breast and bowel cancer, are still major causes of illness and death, and place the greatest pressure on stretched healthcare systems around the world.

We have known for some time that the DNA we inherit plays a significant role in our chances of developing these diseases, and that polygenic risk scores (PRS) can capture that risk and could improve the prevention, treatment, and care we offer to patients.?

PRS testing can be added to current methods of risk assessment to improve the predictions they make, but it can also identify people at high risk of developing these conditions that the current methods miss. It offers the chance to find them early, before they become ill or show symptoms. This means doctors can get people into the right existing screening, prevention, and treatment pathways for them, and early, when outcomes are better.

My co-founders and I founded Genomics plc in 2014 to break through the barriers that were stopping these insights from being translated into clinical practice. For that to happen we need to be sure we have high-performance, validated, polygenic risk scores available for the common diseases, and we need to show how these can be incorporated into clinical practice.

This UK Biobank release and paper is therefore a significant step. It validates our polygenic risk scores and shows that these are more powerful than others, across multiple ancestries. My colleagues and fellow authors on the paper will be sharing more insights into it on LinkedIn over the next week.

This year, we have also been running our first study with the NHS, using genomic polygenic risk assessment to help prevent heart disease. The study, running in the North-East of England, will report later this year, but early results suggest it has generated clinically significant results, while being positively received by participants and their GPs, who have been able to integrate it into current practice easily.

At Genomics plc we believe that genomic testing will become common practice, helping us to prevent diseases, to make better decisions about the best care or treatment for individuals, plan our services to improve the health of communities and populations, and to discover new treatments to keep people healthy. It will, as predicted all those years ago, revolutionise healthcare. This paper is an exciting and vitally important step towards that future.