ASHG 2024: New Research From Genomics and Stanford Medicine Indicates Polygenic Risk Score Screening Could Prevent Almost a Third of Premature, Preventable Deaths

• One in five deaths is considered preventable in the US
• New study shows using polygenic risk scores (PRS) to guide screening programmes could prevent 24.5% of premature, preventable deaths by identifying those at high risk of common chronic diseases
• With PRS, very high risk individuals reached the risk level associated with usual starting screening age on average 12.4 years earlier, high risk individuals 9.5 years earlier, and reduced risk individuals 17.7 years later

Genomics Press Release

OXFORD, England and DENVER, Nov. 13, 2024 -- Genomics, a healthcare company using large-scale genetic information to develop innovative precision healthcare tools and to bring new understanding to drug discovery, in collaboration with Stanford Medicine today announced new research that shows polygenic risk score (PRS) screening and subsequent early intervention could prevent 24.5% of premature, preventable deaths, based on a study of the U.S. population. The findings were presented at the American Society of Human Genetics (ASHG) Annual Meeting 2024. The study won the ASHG's Reviewer's Choice Abstract Award 2024.

In the US, common, chronic diseases account for over 90% of the $4.5 trillion annual healthcare spend, and one in five deaths is considered preventable. Most current public health interventions aimed at early detection and prevention of common diseases are guided by the age of individuals, with most screening taking place from midlife onwards.

The new study from Genomics used a single biological sample to identify those at high risk from birth of 9 common diseases for which screening exists globally. Genomics' proprietary PRS identified a substantial proportion of the population that would qualify for early screening and prevention across breast cancer, prostate cancer, colorectal cancer, abdominal aortic aneurysm, melanoma, type 2 diabetes, hypertension, cardiovascular disease, and atrial fibrillation.

The research found that, with PRS, very high risk individuals reached the risk level associated with the usual starting screening age on average 12.4 years earlier, high risk individuals 9.5 years earlier, and reduced risk individuals 17.7 years later. Across the nine screening diseases, the study shows that PRS-guided screening and early intervention could therefore prevent 24.5% of premature, preventable deaths that occur before screening programmes begin for those conditions.

Professor Sir Peter Donnelly, Founder and CEO of Genomics said:

"Knowledge of genetic risk, measured using PRS, has the potential to deliver substantial public health benefits and can prevent significant premature mortality by tailoring existing screening programmes.

Preventing up to a third of premature deaths would mean many more years of life with loved ones; an enormous benefit for society, the economy, and health care."

Genomics' single genetics test provides risk prediction for major preventable diseases. The company has successfully completed a trial in the UK's health service, the NHS, incorporating the genetic element of risk for cardiovascular disease into the NHS Health Checks. Genomics' PRS for multiple diseases will also be fed back to the millions of participants of the flagship Our Future Health programme in the coming years, which to date has over one million people enrolled.¹ Genomics partners with MassMutual across the US, where MassMutual customers are able to confidentially check their personal risk of ill health. Genomics partners with life science organisations and insurers across the UK and the US.

Genomics has established offices in Oxford, Cambridge, London, and Cambridge, Massachusetts.

About the study

Genomics, 2024: "The clinical benefits of genetically guided population health management"

Using UK Biobank (n = 444,949), we quantified the potential clinical benefits arising from a knowledge of PRS across nine diseases with existing screening programmes globally (breast cancer, prostate cancer, colorectal cancer, abdominal aortic aneurysm, melanoma, type 2 diabetes, hypertension, cardiovascular disease and atrial fibrillation). We identified participants at high (PRS OR>2) and very high (PRS OR>3) and estimated the optimal screening ages for these genetically high-risk individuals, based on the equivalent risk to population-level risk at recommended screening ages. We then leveraged published mortality estimates from interventions to assess the benefits of tailoring guidelines based on genetic risk.

About UK Biobank²

UK Biobank is a large-scale biomedical database and research resource containing de-identified genetic, lifestyle and health information and biological samples from half a million UK participants.

It is the most comprehensive and widely-used dataset of its kind, and is globally accessible to approved researchers who are undertaking health-related research that is in the public interest, whether they are from academic, commercial, government or charitable settings.

About Genomics

Genomics is a pioneering healthcare company that uses large-scale genetic information to develop innovative precision healthcare tools and bring new understanding to drug discovery. We were formed in 2014 by four world-leading statistical and human geneticists at the University of Oxford. Today, we are collaborating with some of the world's leading healthcare organisations and helping them to predict, prevent, treat, and cure—dramatically reducing the human and financial cost of common diseases like cancer, diabetes, and heart disease.

¹ Our Future Health. October 2024. Our Future Health becomes world's largest research programme of its kind. Available at:
https://ourfuturehealth.org.uk/news/our-future-health-becomes-worlds-largest-research-programme-of-its-kind/ Last accessed November 2024

²UK Biobank. https://www.ukbiobank.ac.uk/ Last accessed November 2024