Being diagnosed with a serious illness is something no one likes to think about.

To experience treatment and therapies is to suffer, and depending where you are in the world, even survival can mean financial ruin – if you can afford it in the first place. This is the reality for millions worldwide.

But, what if we lived in a world where we didn’t begin treating heart disease, breast cancer or even diabetes once you became sick, but preventative measures were taken decades beforehand?

This is the aim of Genomics plc, an Oxford-based company who may be on the cusp of changing worldwide medicine forever – and the secret? It’s in our genes.

I spoke to Oxford professor and CEO of Genomics plc, Professor Sir Peter Donnelly, to understand the ins and outs of Genomics’ research and what is standing between his company’s vision and medical practice.

“Over the last 20 years the increase in our knowledge of which little bits of DNA make some people more likely to get heart disease, and some people more likely to get diabetes has been extraordinary. I realised, along with some colleagues, that it wasn’t really having much impact on healthcare,” Prof Donnelly told me.

With this realisation, Prof. Donnelly and his colleagues banded together to put this knowledge to practical use and make an impact on the medical industry.

Thus, Genomics plc was born.

Now, seven years later, the company is about 110 people strong, and spread out between Oxford and Cambridge in the UK, and Boston in the US.

The company is developing a method of examining a person’s DNA to discover what their genes say about the potential of developing a multitude of illnesses. 

“We realised [our research] wasn’t really having much impact on healthcare”

Sir Professor Peter Donnelly

This test can reveal if a person is likely to develop heart disease, lung disease, breast cancer, prostate cancer, colon cancer, diabetes and more.

The end goal is to isolate these potential diseases, and instead of treating them when they develop, they want to prevent them altogether. 

“Although we call it healthcare, it’s really sick care, so the key idea for governments and systems all over the world is for us to get better at preventing disease or catch it really early […] which will benefit the individuals and make the healthcare system more sustainable,” says Prof Donnelly.

‘Polygenic risk scores’ are used to gauge the patient’s likelihood of developing a serious illness, and these scores are made up of two separate evaluations.

Firstly, a patient’s genes are examined using the techniques developed by Genomics plc which generate a score by isolating millions of DNA to evaluate how likely the individual’s genes are to develop certain diseases. 

Secondly, this information is sent to the patient’s doctor, who will then evaluate the patient’s lifestyle, (weight, diet, exercise, smoking etc) and this evaluation will give a separate score. 

The two scores are combined to form the polygenic risk score. 

“We know that genetics can show likelihood of developing a disease, we now have a way of measuring that, and when you use that we can do a better job than we are now at working out who are the individuals really at risk,” explains Prof. Donnelly.

“You only do the test if you can identify someone as high-risk and do something about it. If there’s nothing you can do about it, what’s the point?”

Prof Donnelly

With this kind of evaluation, a patient can make changes to their lifestyle preemptively, or be prescribed personalised medication which specifically targets their particular genetic anomaly causing the disease to lower their risk of developing an illness they may be at risk of.  

What if, instead of telling you that you’re at risk of a curable disease, the test instead tells you that you’re on the way to developing an untreatable, incurable disease? 

“It’s a very natural worry. You only want to do [the tests] if you identify someone as high-risk and there is something you can do about it. If there is nothing you can do about it, what’s the point? There are lots of diseases where there is something you can do – we already have preventing programmes in place, but we don’t know who to deploy them on,” says Prof. Donnelly.

While Prof. Donnelly and many others view the ‘pros’ outweighing the ‘cons’ in this case, not everyone will agree with this assessment, and the main flaw in Genomics plc’s plans could be due to modern medicine’s inability to treat certain illnesses.

It is a complicated question, and possibly the biggest roadblock in Genomics plc’s way could be the human element – no one wants to be handed a death sentence.

Being told that you are likely to develop an untreatable disease is likely to change your life, and the thought is surely to be ever-present, at least at the back of your mind.

What if you get this terrible news and years later you don’t even develop the disease in question? This may become a big detractor in this method, and will no doubt be the topic of controversy surrounding these tests over the coming years.

So how close are Genomics plc to making their testing available to the world?

“We’re doing a pilot programme with the NHS on heart disease […] We’re also working in the US in the Stanford [University] Hospital,” Prof. Donnelly explains. 

These pilot testing programmes will consist of testing 1000 people in the north of England and 5000 people in Stanford. Genomics will use blood tests to isolate millions of DNA from each sample to identify those who are at risk of cardiovascular disease. 

“These initial programmes are fairly small, but in time, I do genuinely believe in 10 or 15 years, a version of this will be routine in healthcare,” says Prof. Donnelly.

It’s an exciting prospect, but as Prof. Donnelly said himself, it is early days. 

There is a bumpy road ahead for Genomics plc and navigating through it could be the key to millions of lives being saved as close as 20 years from now. The professor’s enthusiasm, passion and belief in this project was contagious and I could not help but wonder, in a world where very common causes of death are isolated and prevented in people’s 20s and 30s, how much misery could we all be spared? We will just have to wait and see.