Sir John Burn

Sir John Burn, Festival of Genomics London 2016

With the 100,000 Genomes Project in full swing in the UK, we are all aware of the ambition and transformative power of genomics in healthcare. With the focus on whole genome sequencing, are we missing an opportunity with simpler, point of care diagnostic tests?

A head of the Festival of Genomics London, we spoke with Sir John Burn as he was preparing his presentation ‘The Rise and Fall of Genomics’. The presentation turned out to be one of the highlights of the Festival. He explained that if we successfully implement genomic medicine, we’ll come to know it simply as ‘medicine’. As a firm believer in the power of molecular diagnostics, he outlines where he sees the most practical benefits of genomics in healthcare.

FLG: Genomic medicine is a big issue, it’s not just introducing a new test into the clinic, it’s something that’s going to, and already is having a significant impact across various branches of medicine and healthcare infrastructure. That kind of change needs a lot of different people to be on board to actually make it happen. How far along that process are we here in the UK?

JB: I think we are a bit of a sandwich in the sense of what we’ve got on the ground. We have quite a lot of people who are currently attached to the regional genetic services who are working hard to engage with this process. They obviously understand it’s their future role. And at the top end there is an institutional recognition that we need to reorganise pathology and get our act together to be able to absorb this technology especially driven by the 100,000 genomes project. I think in the middle, the vast majority of the 1.3 million people in the NHS still regard it as something that somebody else does and it doesn’t have a direct impact on their life.

FLG: What do you see as the major challenges that still need to be overcome to get us through to that next stage that really makes genomics part of the healthcare system?

JB: First of all it has to deliver clinical utility. There’s clearly a revolution in terms of things like drug development…it’s obviously of interest but not directly impacting on the daily work of a doctor or a nurse. They need more drugs. How people make those drugs is something else’s problem.

One of the areas where we’re going to see a major change is in the worldwide spread use of genomic diagnostics, in terms of predicting and identifying cause of hereditary breast cancer for example. So, those sorts of molecular diagnostic tests are presenting themselves in far greater numbers, so more people realised they need to understand the terminology of an array taken from a child with a learning disability or a molecular test on someone with cancer. I think that’s where genomics will have its most obvious visible effect on most clinical practitioners. In the pathology setting I think genomics will rapidly become absorbed into pathology so that we don’t distinguish it as genomics, it’s simply pathology. We’ll stop calling it molecular pathology. We’ll just go back to being pathology. But one of the tools that pathology uses will be genomic based analysis rather than being so dependent on immune-staining and dyes and so on. We’ll be looking at the profile of the tumour sample based on its molecular shape rather than whether it’s blue or pink. In my talk, in January, I’ve said it’s the beginning and the end of genomics because genomics become so ubiquitous that it ceases to be useful term.

I think an area where we’ll probably see it have the biggest impact is in recognition of infectious diseases and in point of care testing. At the moment most of the point of care tests are dependent on, sort of immuno assays and most of the infectious disease diagnostics primarily still depends on culture techniques rather than sequencing the genome of the pathogen. I think once the sequencing technology gets just a little bit faster, a little bit more reliable, we’ll find biology and microbiology will be almost entirely made up of people who used genomic technologies. But they’ll still call themselves microbiologist, they’ll just be using a different set tools in their toolbox. And I think that’s probably where we’ll see the biggest impact and most people won’t even know that that’s happened.

They’ll simply take it for granted that when a child presents with an infection we’ll do a test which rapidly says what’s wrong with it and it happens to be that we looked and identified that it was an RNA virus or whatever. So I think that’s where we’ll see a huge impact.


You can read the rest of our interview with Sir John Burn on page 27 here.