Banking Time

5th May 2017

As we approach Dementia Awareness Week (14-20 May), Deborah Mulhearn explains why she has signed up to a groundbreaking health survey, aimed at helping medical professionals learn more about the causes and cures of the nation’s biggest killers.

I’m in a sterile suite of rooms in an anonymous shed-like building in an industrial park in the middle of England. It’s not an underground bunker, but it may as well be for the lack of windows and the growing sense of disorientation. I’m wearing a hospital gown, and I am sliding on a moveable table into a big white machine that looks like a giant polo mint. I’ve lost all sense of time. I feel like Eurydice or Persephone, or some other character from Greek mythology who entered the underworld. I clutch the buzzer that will bring me back out if I panic – a failsafe those classical souls didn’t have.

The machine is a magnetic resonance imaging, or MRI, scanner. But I’m not ill. I’m at the headquarters of the UK Biobank, where half a million people over the age of forty have been asked to take part in a massive health survey. The results of the survey are being made available to researchers and scientists who are studying health conditions including vision, hearing, depression, cancer, heart disease, diabetes and dementia.

The data from the first 150,000 UK Biobank participants has already been analysed, and if my blood sample taken five or six years ago was one of that first batch, scientists will have already measured 28.5m of my genetic markers. It’s all anonymous and altruistic, so although I won’t get to know about any of them, I know that future generations will benefit.

Scientists may know that genes are involved in a particular disease, but not which genes or how they influence its processes and progress. This is where the blood samples come in, as the scientists and researchers can look at each individual’s DNA and try to answer those questions.

Dementia-related research, for example, is in its early stages. “So far we have several hundred brain images,” says Professor John Gallacher, director of Dementia Platform UK (DPUK), which is funded by the Medical Research Council (MRC) and based at the University of Oxford. “But we need 100,000. Although people might be diagnosed in their 80s, the changes probably started twenty years before, and we want to detect these early changes and intervene to try and prevent them.”

DPUK will also scan 10,000 of these participants again in two years, to see whose brains are changing. This important UK Biobank cohort ensures access to the largest breadth of data as well as the most in-depth anywhere in the world.

Up until about ten years ago, explains Professor Gallacher, dementia was a ‘Cinderella’ subject in British science. “But it is now part of a wider research agenda because it is a global issue, and particularly in the UK where we are healthier and older. We no longer die of heart disease and cancer, but dementia is affecting us as we age.”

Through a mix of genetic information from the brain imagery and traditional cognitive tests, valuable information can show how the brain and heart change with age. “Whatever affects the heart also affects the brain,” points out Professor Gallacher. “Illnesses such as diabetes and heart disease have a knock on effect on the brain. And we have found that systemic inflammation in general increases the likelihood of dementia. It is complicated and we are trying to enable a whole range of dementia research.”

He adds that diet and exercise also play a part, “and we can say confidently that it helps to exercise your brain.”

At the UK Biobank you quickly cease to become a person and you become, not so much a number, but a body (in the nicest possible way, of course, as everybody is unfailingly polite and kind). But it’s disconcerting to realise that they are not looking at you as an individual but as a collection of cells from which they will glean the data they need.

The CT or heart scan is first. I’ve a mild case of claustrophobia and feel the need to test out the buzzer that will bring you out. In the event I don’t need to use it. I’m in the scanner for about half an hour and you are given earplugs to muffle the loud series of bleeps, clanging and buzzing noises. There are a lot of breathing and breath-holding tests. Despite the anxiety and effort of doing this on command, I close my eyes and imagine I’m in an alpine field of flowers. The vision comes easily and I’m fine.

Next: the brain scan. The machine looks similar but the experience is more daunting. There’s no breath-holding, and it’s still like being inside a giant polo mint, but you can’t see daylight at your feet because of the plastic guard they fasten over your face. This is not as alarming as it sounds, however. It’s just to hold a mirror so you can see the computer screen needed for the cognitive tests. I try to conjure the alpine field again but to no avail. I stay calm, though, and even nod off a couple of times. Or do I? It’s hard to tell in this white sterile underworld.

After the scans, lung function or spirometry tests are done, where you inhale and exhale quickly into a special piece of equipment.

“A person’s lung function trajectory changes over time, so the longitudinal aspect of the UK Biobank study is extremely useful from our perspective,” says Dr Louise Wain, associate professor of genetic epidemiology in the department of health sciences at the University of Leicester. “If you are recalled for further scans and repeat measurements, it allows us to see the changes in lung function from a participant’s initial assessment five or six years ago, to the most recent spirometry taken.”

Dr Wain is part of the world’s biggest study on genetics and lung health and lung disease to date, and the data from the UK Biobank samples has provided the biggest resource they have been able to access. She and her team are looking into how a person’s genes affect the risk of developing the common lung disease chronic obstructive pulmonary disease, known as COPD. The findings so far into the genetic risk factors for COPD have now been published, which would not have been possible without the UK Biobank data.

COPD is an umbrella term for chronic bronchitis and emphysema, where the lungs’ ability to push oxygen into the blood breaks down. It affects mostly older people and is the world’s third biggest killer, with nearly 1m sufferers in the UK alone. COPD costs the NHS £800m a year and the economy £3.8bn in lost productivity.

“While smoking is known to be a cause of COPD, twenty-five percent of COPD sufferers are non-smokers, and the data has allowed us to look into how genetics affect their risk of developing the disease,” explains Dr Wain. “From the UK Biobank samples, for example, we’ve been able to show that even in smokers, the risk varies between 2:10 and 7:10 ratio of smokers who will get COPD, and this is influenced by their genetic markers.”

The main findings have been the differences in risk. “We’ve been able to double the number of genetic markers known to determine the risk of developing COPD to nearly one hundred. These markers also point us towards potential new treatments. “

We may see a cure in perhaps five or ten years, and resources such as the UK Biobank have really accelerated the possibility of this. “As scientists we also recognise the huge commitment made by the UK Biobank participants because they have directly helped to drive forward research into many diseases and we are hugely appreciative of that.”

Eventually, Dr Wain and her team will be able to look deeper into the genetic differences, and use “precision medicine” to tease out, for example, which individuals are most likely to respond to certain drugs. “We can’t change our genetic markers but we could potentially use them to develop early diagnostic testing to benefit future generations,” she says.

After my scans, it’s more or less plain sailing. Bone density tests and blood samples are taken. For the final part of the interview, you sit at a computer and answer a very full online questionnaire about your health and lifestyle, and a lot more pesky brainteasers. Some of these are incredibly difficult, so it’s probably a good job I’ll never know the results.

I return home with a print-out of some basic measurements such as height, weight and body mass index. I’ve learned nothing new, except that I’m not as claustrophic as I thought I was. And that I’ve done my bit for the nation’s health.

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