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).
OXFORD, England, July 18, 2024 /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.”