Published 10 Oct 2022
Genomics plc have today announced a partnership with Our Future Health to generate polygenic risk scores (PRS) as part of the research programme’s aim to find new ways to prevent, detect and treat common diseases such as dementia, diabetes, heart disease, stroke, and cancer.
The UK is a world leader in genomics and Our Future Health will be the UK’s largest ever health research programme. Our Future Health will collect information from millions of volunteers right across the UK to create one of the most detailed pictures we have ever had of people’s health. By helping researchers to develop new ways to detect disease at an earlier stage and identify people who are at higher risk of disease, Our Future Health is designed to improve prevention and treatment and ultimately deliver better health outcomes. In particular, the programme aims to support the use of genomics in disease prevention and population health by enabling the development and testing of new early diagnostic technologies and preventive interventions.
Calculation of PRS is an important part of the programme. Genomics plc is the global leader in PRS development, recently demonstrating the accuracy of its approach across 53 different common diseases and traits (1), and scores for these will be calculated within the programme. Our Future Health volunteers’ data are de-identified and stored inside a secure platform – a ‘trusted research environment’. Researchers will be able to apply for access to the data to investigate and evaluate novel approaches, tests, and treatments.
Polygenic risk scores enable personalised approaches to prevention, and to healthcare in general. PRS-powered tests and tools can identify people at elevated risk of disease and match them to the right prevention, screening, or treatment pathways for them, with the aim of preventing disease altogether or catching it early when outcomes are better.
Up to five million volunteers will provide a blood sample when they volunteer to take part in Our Future Health, from which DNA will be extracted and genotyped. Our Future Health and Genomics will also work to develop effective methods for delivering feedback to those participants who want to receive it and have given their consent. The programme will work closely with representatives from across the UK health and care sector, including the NHS, to develop the approach to feedback and establish pathways of care if needed.
What is a polygenic risk score or PRS?
Genetics is an important risk factor for many common diseases. While mutations in critical genes are often associated with, or even cause, rare diseases, for many of the most common diseases, it is small variations in our DNA, in up to millions of positions, which add up to affect our risk of developing a disease. These variations are insignificant on their own, but their effects can be combined and measured in a polygenic risk score to give an accurate prediction of risk. PRSs can be used independently or in combination with other health data, such as blood test results, in ‘integrated risk tools’.
How can polygenic risk scores improve health?
PRS-powered tests and tools can identify people at elevated risk of disease and match them to the prevention, screening, or treatment pathways that will be most effective for them. Many of these patients are currently invisible to the NHS. For example, current modelling shows another 700,000 people in England would benefit from taking statins to reduce their chances of heart disease, but current methods do not identify them as being at higher risk.
Another example is cancer screening. Most women in the UK are offered mammograms as part of the national screening programme when they reach age 50, but some are offered it sooner. For example, a small proportion of women, about 1 in 300 (2), have a mutation in the BRCA genes. They are at considerably elevated risk of breast cancer and are offered breast screening from a younger age. NICE also recommends risk assessment based on family history, and annual mammograms for those women in their 40s with moderate or high levels of breast cancer risk. If PRS were used, it would identify about 1 in 5 women at these moderate or high levels of risk (over 650,000 women in England in their 40s). This group is currently invisible to the NHS, and so cannot be offered earlier screening. By identifying more of the people at risk and matching them to the right care, personalised prevention means we can make cancer screening more effective.
Personalisation in healthcare has been perceived as more complicated to offer, more resource intensive and more expensive, but in fact the opposite is true. Personalised prevention, although it sounds counter intuitive, is a way to increase the effectiveness and efficiency of our prevention and screening programmes, improving the health of the population, and delivering better outcomes for patients.
Professor Sir Peter Donnelly FRS, FMedSci, Founder and Chief Executive Officer, Genomics plc:
“Today, millions of people spend many years of their life in poor health and too often we treat diseases only when patients start showing symptoms. Identifying these patients and getting them onto the right prevention, screening, and care pathways can help us to prevent disease or catch it early, allowing the NHS to improve outcomes and use resources more efficiently. We know that polygenic risk scores can be a huge help with this, but for them to be most effective we must learn about how best to use them – the best way to provide them to individuals and doctors, and how to integrate them into current practice most efficiently. This partnership with Our Future Health will enable us to do that, and I am incredibly excited to get started.”
Dr Andrew Roddam, CEO and Joint Chief Investigator, Our Future Health:
“We’re at an exciting moment for Our Future Health as we begin to invite millions of people to join the programme in four regions across the UK. We’re looking forward to working with Genomics plc to explore how PRS could be useful for the volunteers taking part in Our Future Health and in healthcare more widely. This partnership has the potential to teach us more about PRS and its potential role in the prevention and screening of diseases.”
NOTES TO EDITORS
(1). UK Biobank release and systematic evaluation of optimised polygenic risk scores for 53 diseases and quantitative traits. www.medrxiv.org/content/10.1101/2022.06.16.22276246v1
(2). Breast Cancer UK, About Breast Cancer, Facts and figures: www.breastcanceruk.org.uk/about-breast-cancer/facts-figures-and-qas/facts-and-figures/
About Genomics plc
Genomics plc is a pioneering British healthcare company that aims to transform health through the power of genomics. The company was spun out of the University of Oxford in 2014, and now employs more than 130 people in the UK and the US. It uses an extensive data platform and novel analytical tools to enable a prevention-first approach to healthcare by using its powerful risk prediction tools to get more of the right people into the right screening, diagnosis, and treatment pathways for them. For additional information about Genomics plc, please visit www.genomicsplc.com
About Our Future Health
Our Future Health will be the UK’s largest ever health research programme. It is designed to help people live healthier lives for longer through the discovery and testing of more effective approaches to prevention, earlier detection and treatment of diseases. It will collect and link multiple sources of health and health-relevant information, including genetic data, across a cohort of 5 million people that truly reflects the UK population. This will create a world-leading resource for academic and commercial researchers to undertake discovery research on early indicators of disease, plus the opportunity to re-contact participants on a risk-stratified basis for secondary studies. Please visit ourfuturehealth.org.uk for additional information.