Genetic testing could bring in ‘new age’ of diagnostics in NHS

A DNA test that looks at genetics as a risk factor in developing heart disease could usher in a ‘new age’ of diagnostics in the NHS , an expert has said. GENinCode was founded in 2018 and develops genomic tests and algorithms that help clinicians diagnose patients more quickly and precisely. One such product is LIPID inCode, which was developed to find more people in the UK population living with familial hypercholesterolemia (FH). People with FH have a genetic mutation that make them more susceptible to high cholesterol alongside ‘traditional’ risk factors such as smoking or obesity. Their livers cannot break down ‘bad’ cholesterol in the blood stream, leaving them with a greater chance of heart disease at a young age, as well as heart attacks and sudden cardiac death. It’s a new age, if you like, of not only looking at if someone smokes, if they’re overweight; what we call traditional risk factors. It will look at genetics as a risk factor as well The test uses a sample of saliva or blood from patients to analyse six genes with sequencing technology. Matthew Walls, chief executive of GENinCode, said looking at information from the tests allows doctors to ‘provide a risk assessment’ on the likelihood of a patient having a heart attack. He told the PA news agency: ‘That’s quite a big step change in the way that risk assessment and diagnosis of patients will be delivered moving forward. ‘It’s a new age, if you like, of not only looking at if someone smokes, if they’re overweight – what we call traditional risk factors. It will look at genetics as a risk factor as well.’ GENinCode estimates that one in every 250 people in the UK has FH and said its test supports the NHS’s 10-year plan to identify at least 25% of people with FH by 2024 as part of its genomics programme. The blueprint, also known as the Long Term Plan, was published by the Government in January 2019, outlining how a £20.5 billion budget would be spent over five years in a bid to improve outcomes for those with heart disease and stroke, as well as cancer, respiratory disease and dementia. Last month, a report by the Health and Social Care Committee on digital transformation in the NHS identified genomic sequencing as a key factor for innovation. Genomic testing on the NHS in England is currently delivered through the Genomic Medicine Service (GMS) via seven NHS Genomic Laboratory Hubs (GLHs). There is also the National Genomic Test Directory, which outlines the full range of genomic testing commissioned by the NHS, including tests for 3,200 rare diseases and over 200 cancer clinical indications. Testing for FH is included in the directory and anyone who meets the eligibility criteria can be offered this testing across England.According to Mr Walls, the ‘biggest single parameter’ when it comes to a person’s risk of having a heart attack or stroke is genetics. He said: ‘There are many people in the population who haven’t got a strong genetic hand. If they start to smoke, you’re running the dial in the red genetically and you’re also in the red clinically with what you’re doing in your environment, such as smoking. ‘The genetics of an individual accounts for half your risk of having a heart attack. That’s a big impact and it’s never been included as one of the risk factors.’ In England, the LIPID inCode test was first implemented by the NHS in July 2022 and is currently being used in primary care in Sheffield, Leeds and Newcastle. There are quite a number of ways you can reduce the chances of having a heart attack, but you need to know who those individuals are who are most at risk Tests are given to patients who are at risk of high cholesterol due to external factors, in cases where doctors are concerned it could be FH. ‘When we identify them really quickly, we can treat them,’ Mr Walls said. ‘The drugs are available. What isn’t available is knowing who and where they are, and that’s why we need to find them through genetics. ‘We’re trying to get to a point where we’re preventing it by trying to identify those individuals early, so they can change their lifestyle or take therapy. ‘There are quite a number of ways you can reduce the chances of having a heart attack, but you need to know who those individuals are who are most at risk.’ Mr Walls said ‘there’s no reason why’ LIPID inCode could not be rolled out across England ‘in the next few years’. In May, the NHS earmarked funding to accelerate the use of the test. The test is also being used in the US, as well as in Spain, Germany and Italy. Mr Walls added: ‘It’s not only us as a company, it’s us as a nation trying to make sure that we’re all fitter and healthier and finding those individuals as risk.’