Health horizons

Genomics and AI are driving prevention

Our rapidly expanding understanding of the role genes play in cancer is already transforming prevention with tests that look for specific variants such as the BRCA1 and 2 changes which increase the risk of breast, ovarian and prostate cancers.¹

This will continue to improve as we widen the use of these tests and look for more genes — such as Lynch Syndrome, a collection of coding errors associated with many solid cancers including bowel, prostate, ovarian and pancreatic tumours.²

But we are now entering a new era of genetic tests which look at the bigger picture and deliver risk scoring which gives people specific, actionable advice on how they can reduce their individual risk of getting cancer.

Earlier diagnosis

This is being coupled with advances that are driving earlier diagnosis — such as AI-assisted digital pathology and mammograms — that mean more cancers are being caught early, when the chances of a cure are much higher.

The implications for both public and personal health are game-changing.

Two out of five cancers diagnosed in the UK — including some of the most common and deadly forms of the disease — could be prevented.^3,4,5

Cancer Research UK (CRUK) estimates that tackling modifiable risk factors, such as poor diet and lifestyle choices and unhealthy habits, would prevent 135,000 cases of cancer a year.⁶

But this would not only save lives, it would also save the UK economy as much as £11.6 billion a year in cancer costs alone, say researchers at the University of York.⁷

Clear benefits

Dr Tim Woodman, Medical Director, Bupa says, “In addition to these clear benefits, encouraging more people to make positive changes to their diets and lifestyles will have a far wider impact on health and wellbeing.”

CRUK has identified seven simple steps to cut cancer risk: don’t smoke, maintain a healthy weight, be safe in the sun, reduce alcohol consumption, eat a high fibre diet, limit intakes of processed meat and be more active.⁸

“Many of these factors are key contributors to other major health concerns including cardiovascular disease⁹, diabetes¹⁰and kidney disease¹¹, so anything which addresses these issues will have a huge impact on public health.”

Struggle to act

Yet despite these risk factors being well documented, and almost universal awareness of the benefits of maintaining a healthy diet and lifestyle, millions of people struggle to act on this advice.

One in four adults in the UK is now living with obesity¹²and 34% of men and 42% of women are so inactive their health is in jeopardy.¹³

Addressing this dangerous disconnect is a priority for public health experts and those tasked with promoting health and wellbeing in the workplace.

Challenges

A recent paper which looked at this in the context of heart disease identified three challenges:¹⁴

How people engage with health advice,
How effectively they adhere to that advice.
And the wider environment which shapes their decision.

The authors point out, “While the population-level evidence base for lifestyle change is robust, there is also strong evidence that dietary and exercise change is difficult to achieve and sustain.”

That’s why genetic testing is such a powerful tool.

Leading the way

Bupa is leading the way in this new era of transformational health, by providing tests which look at the whole genome to assess the interplay of multiple genes as well as those which look for specific gene variants.

Tim says, “We are the first UK private healthcare provider to pilot whole genome sequencing, which identifies the risk of developing 10 different cancers and more than 36 different conditions overall.”

This involves analysis of more than 300 genes and nine polygenic risk scores — a technique used to assess how many different genes interact to increase, or reduce, the risk of disease.

Crucially, the test only reports on genes where something can be done to help head off disease.

Tim says, “This eliminates unnecessary anxiety and more importantly — because the focus is on the specifics of prevention — these tests provide strong, evidence-based motivation that will help people make positive changes.”

Motivation into results

And Bupa provides support — such as expert-led weight management programmes and personalised health insights — which helps people turn this powerful motivation into results.

Knowledge of specific gene variants, and how we can use them to prevent disease, is also growing.

It’s just over 30 years since the BRCA1 gene was identified, opening the way for women at high risk of developing breast or ovarian cancer to have regular screening or preventative surgery and drugs to prevent the disease.¹⁵

Founder mutations

Now the discovery of BRCA ‘founder mutations’, which are more common in some communities, point to benefits for more widespread screening.

Scientists are also identifying new variants which increase cancer risk — most notably the changes in five repair genes known as Lynch syndrome.¹⁶

It may not be as familiar as the BRCA variants, but one in 400 people in the UK has Lynch syndrome.¹⁷

People with Lynch syndrome have up to an 80% risk of developing colorectal cancer and up to 60% chance of developing womb, gastric, ovarian, small bowel, bladder, prostate, pancreatic and an aggressive form of brain cancer.¹⁸

Close relatives

And if you are one of these people, there is a 50% chance close relatives will have it too.¹⁹

In this situation, knowledge really is power because being aware of the risk means people with the gene have the option of earlier and more frequent screening and will be more alert to any symptoms.

This is particularly important for ovarian and pancreatic cancers which are associated with symptoms that easily overlooked or misdiagnosed.

Pivotal shift

As the American politician and inventor, Benjamin Franklin, said, “An ounce of prevention is worth a pound of cure”.²⁰

And that is now the future.

Carlos Jaureguizar, CEO for Bupa Global, India & UK, says, “What’s exciting is it creates a pivotal shift in how healthcare can be provided, moving from treating illnesses to increasing interventions for prevention, ultimately helping people stay healthier for longer."