A new era of personalised medicine: NHS is trialling DNA TESTS in northeast England to check patients’ hidden danger of heart disease
- The test has been developed by a University of Oxford spin-out called Genomics
- The company said it wants NHS to shift ‘from reactive to preventative treatment’
- Test would complement existing data like BMI and to provide a risk assessment
The NHS is about to kick off a trial DNA test in Northeast England that reveals a person’s risk of heart disease – the world’s biggest killer.
The integrated risk tool (IRT), which will involve about 1,000 patients, has been developed by Genomics, a biotech company spun out of the University of Oxford.
The test looks for genetic markers in DNA from a blood or saliva swab and combines this with traditional risk factors like age and family history to assess risk of disease.
If the new test were applied to everyone in Britain aged between 40 and 60 it could identify another 650,000 people at high risk of cardiovascular disease, the firm says.
Treating those people would to avoid about 15,000 cases of disease over a decade and prevent nearly 2,000 deaths.
The IRT could also be used for other conditions like breast, prostate and skin cancers, type 2 diabetes and bipolar disorder.
Genomics uses large-scale genetic information to develop healthcare tools. It will perform a test of around 1,000 patients in Northeast England to predict risk of ischemic heart disease – the world’s biggest killer (stock image)
HEART DISEASE: THE WORLD’S BIGGEST KILLER
The world’s biggest killer is ischaemic heart disease, responsible for 16 per cent of the world’s total deaths.
Since 2000, the largest increase in deaths has been for this disease, rising by more than 2 million to 8.9 million deaths in 2019.
Stroke and chronic obstructive pulmonary disease are the 2nd and 3rd leading causes of death, responsible for approximately 11 per cent and 6 per cent of total deaths respectively.
‘This represents a real first in personalised medicine,’ Professor Sir Peter Donnelly, Genomics founder and chief executive, told the Times.
‘By using genetics we can improve risk prediction for cardiovascular disease so that therapies like statins, as well as lifestyle changes, can be better targeted to the right individuals.
‘This pilot study with the NHS will keep the UK at the forefront, globally, in using the power of genomics to drive improvements in healthcare.’
Heart disease includes conditions that narrow or block blood vessels (coronary heart disease), which can lead to a heart attack, angina and some strokes.
Heart disease also covers conditions that affect the heart’s muscle, valves or cause abnormal rhythms (arrhythmias).
According to the researchers, there is now ‘considerable interest’ in whether genetic data can be used to improve standard disease risk calculators.
Their new IRT test provides what is known as a polygenic risk score (PRS), which takes into account millions of genetic markers that influence risk of disease.
According to the Times, this will be combined with a prediction algorithm already in use called QRISK to estimate each patient’s individual heart disease risk.
Many people have an illness, or several illnesses, that are affected by changes in either one or many of their genes, frequently coupled with environmental factors.
Researchers are studying these changes to understand the role that genetics plays in diseases across different populations.
A ‘polygenic risk score’ is one way by which people can learn about their risk of developing a disease, based on the total number of changes related to the disease.
Source: National Human Genome Research Institute
QRISK is based on traditional risk factors like age, systolic blood pressure, smoking status, body mass index, ethnicity and family history.
The calculator jots up several risk factors to give a score – revealing the risk of developing heart disease in the next 10 years.
Those classed as at ‘high risk’ will have a 10 per cent chance of developing heart disease in the next 10 years.
A recent study was published in the journal Circulation: Genomic and Precision Medicine by the firm’s researchers.
It details how the risk of developing coronary artery disease is more accurately predicted if existing risk prediction tools used by clinicians are adjusted to include PRS.
The Genomics tool was shown to be particularly effective for use on men between the ages of 40 and 54.
In fact, PRS was the most powerful individual risk factor for heart disease – more powerful for example than cholesterol, blood pressure, BMI, or smoking history.
The research estimates that use of the tool could help prevent up to 12,000 deaths in the US over a five-year period.
Genomics said it wants to shift ‘from reactive to preventative treatment’, reducing pressure on the healthcare system.
‘We have known for a long time that genetics is a major contributor to risk for heart disease,’ said Professor Donnelly.
‘Polygenic risk scores now give us a robust way of capturing that risk for individual patients.
‘These exciting results confirm that combining polygenic risk scores with traditional risk assessments improves their accuracy.
‘The combined approach not only identifies more of the high-risk individuals, but it can help healthcare professionals focus better on the correct individuals, enabling earlier intervention.’
Polygenic risk score will be used in a national screening programme for prostate cancer detection
Polygenic risk scores are also being used to change prostate cancer detection – and could be fundamental in a new national screening programme.
Unlike for breast and cervical cancer, in the UK, there is no national screening programme for prostate cancer.
Polygenic risk score could also complement the current method, the PSA test, (which detects protein produced by the prostate) and an MRI scan.
This polygenic test uses a sample of blood or saliva from the mouth to assess the numerous genetic variants.
It can identify individuals with high-risk prostate cancer genes (biomarkers) and help predict when an individual is likely to start to benefit from screening.
Currently, men suspected of having prostate cancer can opt for a PSA test, which requires a blood sample.
The PSA test was previously the only test men would have to detect the presence of prostate cancer.
But PSA ‘is not perfect’, as the NHS puts it, and does not accurately distinguish between dangerous cancers and harmless ones.
Read more: Targeted screening for prostate cancer ‘may prevent one in six deaths’
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