Genomics plc identifies increased levels of undetected risk of heart disease in UK population

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Sep 19, 2024, 03:00 ET

OXFORD, England, Sept. 19, 2024 /PRNewswire/ --

Research by Genomics plc has identified that 8% of the adult population have the same risk of heart disease due to polygenic risk, as carriers of rare genetic mutations that cause Familial hypercholesterolemia (FH).
NHS testing currently focuses on the identification of monogenic conditions, such as Familial hypercholesterolemia, due to the increased cholesterol and heart disease risk caused by such conditions
PRS measure the genetic component of risk for all the common diseases, including heart disease, diabetes, breast, and prostate cancer, with Genomics PRS outperforming all other competitors in all but a handful of diseases and traits
PRS could reduce strain on healthcare systems by allowing them to focus on prevention and early detection of common disease, where the results of treatment are optimal
Research describing best-practice polygenic risk scores (PRS) now published in a peer-reviewed journal

A new paper published by Genomics plc in PLOS ONE indicates that a significant portion of the population (1 in 12) in the UK share the same pattern of risk of heart disease as FH mutation carriers. This is due to the cumulative effects of many genetic changes instead of monogenetic risk. Familial hypercholesterolemia (FH) is a genetic condition affecting 1 in 280 people, caused by a mutation in one of a few key genes that, if untreated, leads to high cholesterol levels and increased risk of heart disease. As a genetic condition, carriers of the mutation are often unaware.

Substantial NHS resources are (rightly) spent on identifying individuals with this and similar rare genetic changes, as once identified, they can be treated with medication to reduce cholesterol and heart disease risk. Due to the impact of early intervention, the NHS's 10-year plan includes a key metric to improve the detection of FH individuals.

Research indicated that the newly discovered polygenic group makes up 8% of the population and is responsible for 18 times more cases, than the FH group, of early heart disease (diagnosed before the age of 50). Even fewer people in this group are aware of their risk, but individuals can be identified via a simple test. Safe and inexpensive cholesterol lowering medications, such as statins, could then be prescribed to reduce risk for these individuals. Research has shown that statins are even more effective in this group, in lowering risk of heart attacks, than in the general population.

The paper tested the performance of Genomics plc's polygenic risk scores, confirming the incomparable rigour of the company's approach to its genomic prevention technology. The PRS scores in the paper have been available for medical researchers to use in the UK Biobank for the last two years, with over 80 research papers already published using the Genomics risk scores.

The study, which compares Genomics' PRS for 28 diseases and 25 traits against 76 other PRS, shows better performance for most diseases and traits. The paper quantifies the drop off in predictive power for individuals of non-European ancestry, but even in these other ancestries, PRS is useful for identifying high-risk individuals. Genomics' PRS also perform better in non-European ancestry individuals, in comparison to other PRS. Using their carefully tested PRS, the paper's researchers investigate the levels of risk currently unidentified in UK populations.

PRS tools can play a critical role in identifying individuals at high risk of common diseases, but need to adhere to high standards of development, and performance assessment.

Professor Sir Peter Donnelly FRS, FMedSci, Founder and Chief Executive Officer, Genomics plc commented:

"It is untenable in the long term to offer interventions or enhanced screening to one group of individuals at high risk of heart disease because of genetics but not to another, just because the variants contributing to risk are different.

It is an exciting landmark to have this paper published in PLOS ONE, as we continue to drive this area of medical research forward, given its very real world application.

But while this is a pleasing validation of all our hard work, more importantly, we have found there is a much larger group of individuals with high PRS scores, who have the same pattern of risk for heart disease. We feel we have a crucial role to play in building awareness of this as we look to help people and the NHS."

About Genomics plc

Founded in 2014 by four world-leading statistical and human geneticists at the University of Oxford, Genomics plc (Genomics) is a healthcare company that uses large-scale genetic information to develop innovative precision healthcare tools and to bring new understanding to drug discovery to partners across the healthcare, insurance, employer and life sciences industries. Genomics collaborates with some of the world's leading organisations, helping them to predict, prevent, treat and cure disease using its proprietary algorithms and databases – reducing the human and financial cost of critical diseases like cancer and diabetes. For additional information about Genomics, please visit www.genomicsplc.com or on LinkedIn or Twitter.

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SOURCE Genomics plc