Prof John Burn - New genetic frontiers

Kat - But now it's time to hear more from the Genetics Society Spring Meeting. Perhaps the most futuristic talk came from Professor Sir John Burn, from the University of Newcastle, who talked about the latest developments in bringing gene technology directly to patients' bedsides - something that could revolutionise medical care in the not-too-distant future. It turns out that a handheld gene scanning device - not too dissimilar from Mr Spock's fictional tricorder - may not be too far away.  I asked him explain more about the exciting developments in technology, and what the future of genetic analysis might look like.

John - We're seeing, I think, a diversity of delivery.  There's been a lot of emphasis on whole genome sequencing and looking at all your genes in one go and that's clearly part of the story and the machinery for that is getting even more powerful but also, point of care testing.  There are a lot of situations - infection diagnosis, pharmacogenetics in people being prescribed drugs where you might just want to do a test here and now, and a very specific test targeted to a particular purpose.

Kat -   So, just a couple of genes, not the whole lot.

John -   Yeah, exactly and it takes a lot of issues about protecting your data and so on.  I mean, you could reliably give that to a much more diverse populations of clinicians like pharmacists and GPs because they're not asking for genome questions.  They're just asking the question they need an answer to for this particular circumstances.  I'm currently in a debate and I'm obviously bias because the company I'm part of has now got a very powerful point of care technology which is using nanowires.  On that basis, you end up testing a yes, no sort of question - is this or is this not present?  And then from there, we're moving on to sequence short runs of DNA and we think we can actually take that to the next level, and actually sequence whole stretches of DNA by using nano channels lined with nano wires.  So, it's actually very exciting because it means we actually can really now see the prospect in our gadget - the first of which arrive next month - of doing sort of 20 tests for 20 pounds in 20 minutes, which changes the whole game in terms of point of care testing.

Kat -   So, just to get an idea of this kind of technology, what sort of scale are we talking about - the size of a microwave, the size of a phone?  What's the future going to look like for these kind of point of care genetic tests?

John -   There are lots of machines around and they vary in size and complexity.  The one that we're working with, QuantumDX, we have our first machine that looks like a big old fashioned computer or a microwave is a good comparison.  But that's actually because we're still playing with the constituents.  By the end of this year, we'll have something that will be with a screen about the size of an iPad that's easily portable.

Kat -   So, a laptop kind of size.

John -   Yeah, sort of a laptop size but a bit deeper.  But in fact, our intention is to end up with what you might call the sort of overinflated iPhone which would actually be able to take a cassette plugged in the top and the cassette carries all of the necessary DNA extraction amplification and testing chemicals.  So, the same little machine will give you a test for TB or a test for drug sensitivity, or test a tumour sample, depending on what the question is you need answered.  And that's actually within sight in the next couple of years.

Kat -   Because that sounds like something science fiction.  You put a bit of someone's blood in this little device and it tells you, they need this drug and not that drug, they've got this infection, not that infection.  Does it kind of stagger you when you look back over your career that we've got to this point so fast?

John -   Absolutely.  I mean yes, in fact, we've talked to the people in America who are trying to make the tricorder which was of course what Captain Kirk used or Mr Spock used.  In fact, Captain Kirk used captain's log on a pad, so the name iPad actually was derived from that era.  And yes, I think the tricorder is getting closer.  I mean, the idea that you can spit in the end of the machine and for next or nothing in no time, know the DNA result was unimaginable.  I mean, when I started genetics, we can do any DNA tests.  I actually pre-date the DNA era which is quite scary.

So, I think we've got to keep changing our perception.  DNA was sort of a hypothetical concept when I started then it became something very few people could do, then it became dramatically more accessible but still, big technology driven by people who are very clever and not part of the common sort of routine clinical practice.  What we're now moving into is that period where it sort of disappears in a way.  Our iPhones and our smartphones have got enormously powerful computers, but we don't think of them as enormously powerful computers - it's just a phone. And I think sequencing in DNA will just be a test.  It will just be a part of our routine practice and I think that's where we're at now.  I think that's where we're at now.  I think it's going to become completely ubiquitous at certainly in terms of these simple tests.  And potentially of course, if we get 100,000 genome project to work in our medical records, we'll carry a whole host of the useful information in a few years' time that will help us get more personalised care.

Kat -   And where do you see are the really potential big wins that could come quite quickly from getting more genome sequencing technology available in the clinic in the UK?

John -   I think that we shouldn't be underestimating the logistical challenge of understanding complex traits because there's so much we don't know about the genome in terms of noncoding RNAs, epigenetics and so on.  There are genes being switched on and off by environmental factors.  So, I want to concentrate on areas for example with hereditary breast cancer, hereditary bowel cancer, familial hypercholesterolemia, where we've got those three conditions in England or in the UK.  There are about a third of a million people carrying genes, high penetrance genes, and in each case, we have a very effective intervention that could reduce or avoid them developing cancer.  The one I'm obviously most interested in is colon cancer because we've shown that 2 aspirins a day will half - you're a cancer risk if you've got hereditary cancer [genes] and that's a very cheap treatment.  But there are 60,000 people out there in Britain based on the best evidence and we only know 6,000 of them.  So, we've got to find those people and that's where I think there's going to be a major development in the near future.  But once we proved it worked for them where the ethics is clear, the research is encouraged by the patient group, we can roll it out into a bigger population. And 5 years from now, I think all genome sequencing is a sort of fairly routine thing that if you turn up with a medical problem.  It's entirely within vision.

Kat - That was John Burn, from the University of Newcastle and the company QuantuMDX