'If you've had one child with a major problem, will it happen again? If several members of your family have developed an early onset neurological disorder, you say, will it be me?'
Modern medicine can offer answers to these questions, and the source is an unlikely place – next to Newcastle train station. Passengers on the train to Newcastle every day gaze at the impressive architecture of one of the UK's most important research centres. It houses 600 researchers and attracts a quarter of a million visitors a year to its public science centre, the Centre for Life.
Another icon of the North can be found in this building – Professor Sir John Burn. Professor Burn was a pioneer of bringing genetic testing into medicine in the 1980s. Our era of personalised medicine owes a debt to pioneering thinkers like him. Still doing research, he is currently looking at ways to prevent hereditary cancers. The Life Scientific on Radio 4 tells the whole story.
'There are a significant number of rare diseases, which individually may only affect one in 10,000 people, but collectively, affect one in 17 of our population… these are mostly attributable to single, specific gene problems,' said Professor Burn, 'We could do so much more to help.'
Professor Burn's major interest is preventative medicine; identifying the genetic problem (or, as he calls it, the 'spelling mistake') before the disease starts. And, like many geneticists, he is also interested in saving the next generation from disease, by identifying couples who both carry a faulty gene. 'Around a third of the children who end up in long-term children's beds are down to genetic conditions,' he noted.
On the ethical question of who owns our genetic code, Professor Burn has a strong opinion. 'Quite clearly, it's our DNA sequence, therefore it's our individual information.' However, he also points out that if you want personalised healthcare, you have to share this with your healthcare provider. Flying the flag for the NHS, he points out that, unlike America, this won't affect your insurance. Professor Burn sits on the board of the NHS and also chairs a biotech company, so has experience of both public sector and commercial healthcare.
The regulations around trials are becoming ever more strict and difficult. 'We all want our treatment to be based on knowledge, but we make it so difficult to collect that knowledge,' he said. 'People pay lip service to prevention, but they don’t necessarily invest in it as much as they should.'
What first sparked Professor Burn's fascination with genetics as a 17-year-old was attending a lecture by an Oxford University geneticist. Later at medical school, the question of DNA kept recurring to him. He became a clinical geneticist, which was 'a bit of a leap as they hadn’t created the speciality at that point'. He then worked at Great Ormond Street Hospital in London on childhood genetic disease. Professor Burn is unusual in working at the interface of medicine and research. He believes that we can learn from both patients and pipettes.
'These young people who were destined to get cancer were obviously an attractive group to work on.' Professor Burn uses an analogy of the canaries which were sent down coal mines in Newcastle. These birds don't die in their hazardous job, but are rushed out and given mouth-to-beak resuscitation. Professor Burn sees his patients as canaries (in a clearly caring way!). I certainly enjoyed his many fascinating patient stories.
One of the most informative sections was when Professor Burn spoke about the health benefits of aspirin. It is now common knowledge that heart disease and cancer is encouraged by inflammatory drivers. But did you know that all plants contain salicylates (the chemical in aspirin), which they use to fight infections? These chemicals also encourage human cells to die (through cell suicide, or apoptosis) rather than turn into a cancerous cell. He's currently running a trial to find out how much aspirin we should all be taking.
Professor Burn's personality and identity as a proud northerner come across very strongly in this interview: 'Of course, Northumbria was a kingdom before Scotland, so there's a very strong sense of identity in the North.' He also admits that having a database of 3 million people who tend not to travel far is perfect for genetic research! In Newcastle, research past and present includes Dolly the Sheep, and the so-called three-parent babies.
Looking forward, he speaks of very fast DNA tests that will soon be trialled by his commercial company, QuantuMDx. He believes genetic sequencing will become standard treatment. 'It will be everywhere. It will be ubiquitous,' he said.
'The term genomic medicine will disappear. It will just be medicine.'