Genome sequencing for all, the abuse of stored genetic data and red tape halting research are just some of the issues the NHS will have to deal with this year, according to Sir John Burn, professor of clinical genetics at the University of Newcastle, chair of the British Society for Human Genetics (BSHG).
As a finale to BioNews' crystal ball gazing series (see BioNews 642 and 640 for expert predictions in the fields of human embryonic stem cell and infertility research, respectively), I spoke to Sir John about what 2012 has in store for genomics and genetics. As he's also a member of the Human Genomics Strategy Group (HGSG), which released a report on the future of genetic medicine in the NHS in January, where better to start than there?
If, as the HGSG report noted, the NHS does need to take genomics more seriously, how can they go about it?
Genomics is such a big issue, it permeates every branch of medicine, in every corner of the land — so we need an integrated approach to wrestle with it. We want to link everyone's efforts together, encourage data sharing and break down the barriers between institutions. For that we need a strategic clinical network for genomics like there are for cancer and cardiovascular diseases. If we actually manage it, that would be a big breakthrough, and really raise the genomics flag.
Personalised medicine has attracted huge amounts of press lately — do you think we'll soon start seeing everyone having their genomes sequenced?
I was flying a lone flag when we were working on this part of the HGSG report, because it did have a theme of big genome science, but actually I don't think everyone having their genome sequenced and referenced is a practical way to run our health service.
Also, the minute you start trying to introduce it in a country with private sector dimensions people will get nervous about who knows what. Hundreds or thousands of healthcare workers could have access to the data. I think the security issue will introduce enough hot air for it not to happen — if nothing else it will be the perfect cover for a politician who doesn't want it!
What do you see as the better option?
Wherever possible, we should be looking for fast, cheap, near-patient tests relevant for that person's immediate needs, which is easier to introduce. My work is increasingly directed toward this: we're working on a handheld device designed to analyse DNA quickly to detect specific diseases in the field. So, for example it can be used in a GP's surgery - you just take a small blood sample, programme in the patient's data (age, sex, weight, and so on) and within a matter of minutes you know their warfarin [a blood thinning drug] sensitivity, and you base their prescription on that.
An issue you felt strongly about that was mentioned in the HGSG report was that of consent in clinical trials, why do you think that will pose problems as we move into the genomics era?
There needs to be a sense of urgency with genomics; we're on the cusp of generating unbelievable quantities of data which we've absolutely no idea what to do with. It's potentially going to cost us a fortune and we'll miss really useful clinical data because we can't see the wood for the trees.
The consenting process has evolved for giving people dangerous drugs or operating on them. It doesn't really fit when you're trying to work out how a million variants match up to 100,000 phenotypes in any combination - we simply don't have the resources to keep asking people if it's OK for us to use the information for this purpose or that purpose. People are bemused by these constant requests, they normally just ask 'Where do you want me to sign?'
And how do you see a way around that?
We want to put approved researchers in a position where they can harvest all the available data, analyse and cross reference it, and say 'We think this marker is predictive of this disease'. For that, we need a generic consent system that says it's OK to use samples taken within the context of the NHS for health research, as long they're anonymous and it won't hurt the person in question. I think we're pushing an open door there, we just need to present it in the right way.
You also work closely with the genetics specialty group, part of the National Institute for Health Research (NIHR), what do you think the big issues will be for them in 2012?
NIHR has had a major beneficial impact on clinical research. People are naturally apprehensive about funding for the life sciences but I expect it will continue to be protected. The big issue is squeezing some of the bureaucracy out. A drawback of funding in large scale organisations, like NIHR, is that the process sometimes strangles the outcome — so we're trying to make it easier for people in genetics to work together freely, as we used to. In projects involving rare diseases there are often more administrators involved than there are patients, this is hugely expensive and effectively kills the research.
The 'development arm' of our Genetics Specialty Group is the Collaborative Group for Genetics in Healthcare, and we've been lucky enough to get a programme grant from the Department of Health. So, with the support of the Secretary of State for Health, and now from the National Office for Clinical Research Infrastructure, we are working to develop a formal agreement to get a more efficient system for genetics research. Our idea is that this will allow any one of the 23 regional genetics centres, and their foundation trusts, to sign off non-interventional rare disease research on behalf of the whole network. We really hope this will be a forerunner of a major reduction in research bureaucracy when the promised Health Research Agency comes into being.
And in the field of genetics in general, what one thing do you think would make a big difference to the way research is carried out?
A genuine criticism of genetics is that we tend to look at the more traditional, single gene syndromes, rather than trying to address the economically important aspects of healthcare — perhaps because these diseases are seen to fall into another specialist's domain.
We need to ask ourselves what we're actually about — and that has to be alleviating suffering associated with any disease with a genetic component. We need to give them more attention, so we've got to enlist support of those with an interest in genetics who are involved in other specialities. We want them to be part of the genetics community, not set themselves up a separate entity.