Would you like to be tested to find out which life-threatening diseases based on your genetic makeup you are most likely to develop? Or do you prefer to face the future in ignorant bliss? It’s a divisive question that we asked the founder of the biotechnology start-up Genomics, Professor Sir Peter Donnelly.
The academic-turned-entrepreneur from the University of Oxford, who became one of the country’s youngest professors in 1988, created the university’s start-up in 2014 with fellow experts.
The company has since developed a test that has the potential to improve personalized medicine and help save lives and NHS resources.
Genomics technology examines patients’ UKTN and uses an algorithm to help calculate their risk of disease. The technology is being tested in a new NHS pilot project with 1,000 volunteers, focused on heart disease, and Sir Peter told The Standard that a similar trial with around 5,000 patients between the ages of 40 and 60 is due to start at Stanford hospitals in California this summer.
If the test were rolled out across the NHS it could mean Britons would be able to know at crucial times in their 40s or 50s if they are more likely to develop heart disease. The idea is that GPs could then help patients make lifestyle changes and get any necessary preventative treatment, like statins, before they actually get sick.
It could usher in a new era of preventive medicine – one that could empower patients and save the NHS money. Treating someone with heart disease costs a lot more than keeping patients from getting sick in the first place.
Volunteers in the trial undergo a blood test, and Genomics technology uses an algorithm to help analyze their genetic patterns. Certain genetic patterns have been linked to an increased risk of heart attack later in life – and they can occur in people who currently have no symptoms of the disease.
Patients will be given a personal ‘polygenic risk score’ (PRS), which will be examined with a clinical risk prediction tool currently used by the NHS that examines factors such as a person’s BMI and cholesterol levels.
Sir Peter said: “This is yet another example of the NHS leading the world with this lawsuit.
“It’s on the cutting edge [tech]… It’s about getting it into health care now and putting more emphasis on prevention.
Other genetic patterns have been linked to an increased risk of other diseases – from breast cancer to multiple sclerosis.
Breast cancer screening tests could be offered at age 40 to rule out potential patients who would otherwise be “invisible”. Sir Peter said it was possible that in the longer term the technology could be deployed to help test young people in their 20s and 30s for diseases more commonly developed earlier, such as autoimmune diseases.
Isn’t he worried that if the tests are rolled out some patients will just say, “You know what, I’d rather not know if I’m at risk”?
“I understand why someone would be a little worried,” said Sir Peter. “It’s important to say that these are just risk factors. If you have a high PRS score for heart disease, you’re about 4 to 5 times more likely to get it.
“It’s not that genetics determine the outcome, it’s a risk factor. Either way, there are things you can do. [to help prevent disease]. You can be more vigilant, you can have medical interventions. It is important to understand. “
Originally backed by late securities picker Neil Woodford, the company just completed a $ 30million (£ 22million) fundraiser to fund further testing and research, which has been grossly oversubscribed. The backers included the US life sciences investment firms F-Prime Capital and Foresite Capital.
Sir Peter said that after decades of working in academia it’s a very different experience having to turn investors away and the start-up plans to raise more cash in the future to grow further in the world.
“This money is used to finance the next stage of our growth,” he said. “We think so [the test] will be transformational.
“There are opportunities all over the world, especially in developed health systems … The standard hospital system [trial] is the first pilot in the United States.
“I’ve been doing this research for 25 years and now it’s really exciting that after a long time we are at a point where we can really make a difference. What really excites me is that we now have the opportunity to use genomics to impact people’s health. “