For £300, a first-of its-kind test will allow patients to have a full DNA scan providing personalised medical care to help them avoid unwanted side-effects from medication.
Bupa, Britain’s biggest health insurer, is making the test available to anyone through its website. The test will screen their genetic make-up for sensitivity to 111 commonly used medications.
Then, from this autumn, three million UK employees who have health insurance with the firm will be offered the chance to have their whole genome sequenced to work out their personal risk of developing a range of diseases such as prostate cancer or heart disease.
It is all part of a new approach to personalised medicine. Until recently, the cost of genomic testing was prohibitively expensive for all but a few cases, but advances in science have made a cheaper test possible.
Bupa sequenced almost 2,300 genomes as part of a pilot scheme that began in October last year. It found that 99 per cent of those tested had some level of genetic sensitivity to one or more drugs, while three quarters had an elevated risk of some conditions.
How the body breaks down medicine can depend on your genes. In some people this can mean a drug doesn’t work, or the dose needs to be higher or lower. In some cases it can increase the risk of a side-effect.
A study by Bangor University in 2022 found that almost 17 per cent of admissions to hospital were linked to an adverse reaction to medicine, costing the NHS £2.2 billion.
The saliva-based test offered by Bupa is sent by post and the results arrive four weeks later. The option of a private, remote GP appointment is included.
Dr Rebecca Rohrer, genomics director for Bupa, said: “We’ve long known that most medications only work for 30-50 per cent of the population. With more than half of us regularly taking prescription medication and an increasing number affected by a chronic condition, it’s crucial that people are prescribed the right medicine from the start, tailored to their unique genetic makeup.
“In the longer term, genomics is key to early detection and even preventing some illnesses altogether.”
The first time the whole human genome was sequenced it took from 1990 to 2003 and cost almost $3 billion. Now the cost is less than $200, making it commercially viable.
Bupa’s whole genome sequencing test, being offered to employees, produces a polygenic risk score — a calculation based on millions of pieces of DNA and their total effect on the chances of developing 36 preventable diseases including cancers, heart conditions and type 2 diabetes.
A polygenic risk score is not a diagnosis but will give patients the information they need to modify their lifestyle according to risk as well as provide clinicians with the tools to offer patients personalised health plans.
Not everyone is convinced polygenic risk scores are helpful, however.
Sir David Spiegelhalter, professor of the public understanding of risk at Cambridge University, said: “I am sceptical about the general impact of such genetic testing. Some will show reasonably increased risk, but the gain over knowing their family history may be marginal. Most people will receive results of little practical importance.”
He added: “In any case, the evidence strongly suggests that such genetic information has a negligible impact on people’s behaviour.”
A study published in the journal BMJ Medicine in 2023 looked at hundreds of polygenic risk scores for 310 diseases. It found that on average only 11 per cent of people who developed disease were identified as being at risk, while 5 per cent of people who did not develop a disease had a false positive result.
Wes Streeting, the health secretary, recently announced plans to carry out whole genome sequencing on the NHS for all newborn babies. The NHS already carries out regular genetic testing for rare diseases and uses gene therapies to treat some conditions.
Peter Donnelly, chief executive of the pioneering healthcare company Genomics, which is delivering some of the testing for Bupa, said this was the future of medicine.
“A few years ago, if I had the entire DNA sequence of someone who was healthy and 40, I’d learn something medically actionable in only about 1 or 2 per cent of those cases,” he said.
“But now we’ll learn something medically useful in about 70 per cent of cases — that’s a big change and it’s because we can now measure the genetic component of risk for all the common diseases such as heart disease, diabetes and prostate cancer, for example.
“These are diseases that cause the most sickness in our populations. They use 70 or 80 per cent of healthcare budgets, and they’re responsible for most of the premature mortality that we have. That’s a huge change.”
Bupa’s genome testing will only report on actionable health risks such as heart disease. It will not report on terminal conditions such as Huntington’s disease. The results will not be linked to setting insurance premiums, it said.
Bupa and other major insurers are signatories to the UK code on genetic testing and insurance, which says insurance companies will not take into account the results of predictive genetic testing.
I had my genome sequenced — with sobering results
LUCY YOUNG FOR THE SUNDAY TIMES
Would you want to know how you will die?
As a health editor, I’ve often pondered it. Thanks to modern science, I at least know one of the statistically informed possibilities: the odds are that it will be prostate cancer.
That was the sobering headline from a 148-page report on my genome — the blueprint for everything that makes me, me.
My lifetime risk of developing prostate cancer is 26 per cent. That’s more than double the average risk of 12 per cent. Genetically speaking, my prostate is 11 years older than the rest of me.
I also have a risk of developing heart disease (no surprise given my family history) and, interestingly, of vitamin D deficiency. But the detail that sticks out is the prostate cancer risk.
Dr Sarah Frankton, chief medical officer at Bupa’s Cromwell Hospital in west London explained to me: “Effectively, you’ll hit the same risk as other men — just 11 years earlier.”
The data doesn’t guarantee I will die of prostate cancer. That’s the important detail of polygenic risk scoring. It’s based on hundreds or thousands of small genetic variations and is a statistical estimate. Lifestyle still matters.
Once you understand that — and the report helpfully shows the risk profile over time compared with the general population — you realise there is no need to immediately panic.
There are many things I can do to try to reduce my risk — that’s the power of these tests.
I see a Bupa GP for a PSA hormone test. Reassuringly, it comes back with an extremely low reading. So in the absence of any symptoms of prostate cancer, I am content to live with this risk.
Tests show my cholesterol is good. But I do have a vitamin D deficiency and am advised to take supplements. (Most people in Britain should do so during winter anyway.)
Another result is that a commonly used drug, clopidogrel, a blood thinner often used after heart attacks or strokes, would be ineffective in my body due to a variant in the CYP2C19 gene. This isn’t hypothetical. If I were rushed to hospital tomorrow, the standard medication might not help me. I am glad I know this and I’ve made sure it’s on my NHS medical records.
And that is the crucial point, for me. This is information I can act on. This is medicine that’s not just about me, but for me.
If in ten years time I suddenly find myself waking in the night to go to the lavatory or develop other signs of prostate cancer, you can be sure I won’t be slow in seeking advice from my GP.