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The peer-reviewed study, which has been published in Global Cardiology Science and Practice, involved DNA samples from 40 index cases who had been referred for FH testing in an ISO15189-accredited NHS genetic screening service. These samples were then retrospectively tested using the Lipid inCodeŽ assay with the results compared with those from the initial NHS testing.
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The positive results showed an "absolute concordance in variant detection between both diagnostic tests for monogenic and polygenic FH, the only difference being in the interpretation and classification of DNA variants based on ACMG guidelines, which did not differ by more than one classification class." The Lipid inCodeŽ test was "equivalent to the NHS test in providing comprehensive genetic analysis that included the assessment of both monogenic (FH) and polygenic determinants of blood cholesterol and including a pharmacogenomic assessment of predisposition to statin-related myopathy".
The study concluded that "the Lipid inCodeŽ diagnostic test can be undertaken with rapid turnaround and gave the same results as those reported by standard NHS genetic laboratory testing." This is expected to increase diagnostic efficiency and support timely clinical management. Furthermore, the study found that Lipid inCodeŽ offers additional genetic information such as a polygenic risk score (PRS) for hypercholesterolemia, pharmacogenomic testing for statin intolerance, and genetic predisposition to raised Lp(a), an important independent cardiovascular risk factor. Lipid inCodeŽ also provides a coronary Genetic Risk Score that indicates the genetic contribution to an individual's overall risk of future coronary heart disease events, based on the genetic variants analysed.
In the UK, around 7.6m people are living with heart and circulatory disease causing 25% of all deaths annually in the UK. Cardiovascular disease (CVD) can be reduced by diagnosing and treating individuals at risk, and the NHS 10 Year Plan (2019) sets out significant ambitions to address the prevention of CVD, including identifying individuals with hypercholesterolemia and particularly those with FH. Lipid inCode offers genetic testing for the causes of high cholesterol, with rapid results and a comprehensive report to clinicians. Lipid inCodeŽ will be offered at a reduced cost to the NHS to help support the NHS meet its declared ambition to detect 25% of people with FH by 2024.
Familial Hypercholesterolemia is an inherited monogenic condition that affects an individual's ability to regulate and remove cholesterol from their blood. FH affects approximately 1 in 250 people in the UK population and globally. The NHS Long Term Plan sets out to expand access to genetic testing for FH, which causes early heart attacks and sudden cardiac death. Individuals suffering with FH have a higher risk of heart disease and death at a younger age. For individuals suffering with FH, it is important to lower their cholesterol to healthy levels as early as possible, often requiring medicines such as statins or more aggressive treatment to help better control cholesterol levels.
GENinCode specialises in polygenic assessment to identify those at risk of developing CVD, with the aim of preventing future cardiovascular events. CVD is a broad disease classification that encompasses conditions such as coronary artery disease (causing angina, heart attacks, heart failure), cerebrovascular disease (causing stroke, and some dementia), peripheral vascular disease (causing limb ischemia, and some chronic kidney disease) and venous thromboembolism. CVD is the leading cause of death and disability worldwide, accounting for one in every four deaths in the United States. According to the US National Institutes of Health (NIH), by 2030, the global cost of CVD is set to rise to US$1,044 billion, from approximately US$863 billion in 2010, and is both a major health issue and global economic burden.
'Evaluation of a novel rapid genomic test including polygenic risk scores for the diagnosis and management of familial hypercholesterolaemia' by Neves, E. et al. Global Cardiology Science & Practice, No 4 (2021), DOI: 10.21542/gcsp.2021.31, https://globalcardiologyscienceandpractice.com/index.php/gcsp/article/view/545
For more information visit www.genincode.com
or email [email protected]
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