Genomic Medicine - Science and Technology Committee Contents

Examination of Witnesses (Questions 220 - 234)


Professor Peter Furness, Dr John Crolla, Dr Imran Rafi and Professor Stephen O'Rahilly

  Q220  Lord Colwyn: Are some of the simpler tests computerised now? Do you actually need a pathologist to do the test? I am thinking of haematology for instance where there are a series of specific tests with results expected within specific parameters.

  Professor Furness: You can get do-it-yourself at-home testing kits but the quality thereof is debatable, and I for one would rather have someone who actually understands what is going on inside that test to at least oversee what is going on and then come on to the interpretation. Even if doing the test is frightfully easy, which I suppose may increasingly be the case in some tests, the interpretation is often very complicated. At one extreme is the good old pregnancy test where you are either positive or negative (hopefully); but most of the tests we are talking about have very complex interpretation problems.

  Professor O'Rahilly: I just wanted to confirm and support that. The pathological disciplines contain an analytical component which is obviously critical and the quality of that is critical. But also grossly underestimated, I think. When it comes to certain economic evaluations of pathology, is the quality of the interpretative service that is provided to primary care and other colleagues in secondary care where the deep experience within those departments and the knowledge of what to do with the test is really a crucial part of the functions of those departments. You are right, it is relatively trivial to do clinical biochemistry, you just get the reagents from a company, stick them in a machine, and the machine gives you a result, but it is the knowledge base within that department of what they mean under certain circumstances, what the interfering substances might be and how to interpret an odd rogue result. All of that requires extensive training and experience, et cetera, so you need to make sure that that is maintained. The idea of a lab factory that could be somewhere off-site and just generating results back is a slightly worrying one.

  Q221  Chairman: Is it not a fact that genomic medicine as it advances will get more embedded into clinical practice and, if you believe that is going to happen, is this not an opportunity to look at the whole of pathological services and on the one hand to do what you said in terms of diagnostics and genomics to have a more centralised approach (and we can debate whether interpretation needs to be local and it cannot be centralised) and at the same time look at the way the current services are delivered in pathology and biochemistry and microbiology and unify them and stop this decentralisation and thereby every trust will then want every laboratory including genomics?

  Professor Furness: From a professional viewpoint that is going to be part of my job for the next three years. We have already seen cytogenetics and molecular genetics coming together in a discipline that is almost indistinguishable. At the moment there is an enormous gulf between histopathologists (which is how I was trained) who look at shapes down microscopes, and molecular biologists who look at shapes of DNA. I think is the two are going to merge and we will see that happening. The speed at which it should happen is difficult to foresee. Making it happen on the ground clearly has political and inter-professional problems that we must seek to overcome. I think starting now and say, "Right, let's re-organise everything," would be inappropriate. An incremental approach would be needed to go in exactly the direction that you suggest.

  Q222  Chairman: But if there was some central push to that happening, that would help?

  Professor Furness: The development of central facilities will force people from different disciplines to work together more and I think will facilitate that trend.

  Q223  Chairman: If there was a central push from the government side or the Department of Health side, would that not help?

  Professor Furness: I do not think we currently have a major problem that requires a government push in terms of the professions re-organising themselves. I think that may become more of a problem in the future. I would not really like to see that happen at the moment. I think changed patterns of working are currently being driven by the Carter process and Lord Carter's report—at least I hope. I would be cautious about recommending such a central initiative at present but maybe we should keep talking about that.

  Q224  Chairman: What about when it comes to RNA and DNA-based diagnostic tests?

  Professor Furness: Diagnostic tests based on RNA and DNA is this vast spectrum which we have been talking about and in cancer diagnostics, histopathologists and molecular biologists will be working together.

  Q225  Chairman: But you also mentioned that some of these will require expensive equipment. Is there a need to have a push from the Department of Health for that to happen or is there not?

  Professor Furness: The organisation and funding of the laboratories and equipment is a problem where I think a central push would be a good idea, yes. If the organisations to that extent are remodelled logically on the basis of need I hope that the professions will gladly follow and adapt. We have done quite well so far I think.

  Q226  Lord Winston: You have partly answered my last question. My experience may be a bit out of date but certainly with cytogenetics there have been sometimes horrendous delays in getting results in from centralised services. Is that just under-resourcing at the moment? My impression is that it is pretty patchy across the country.

  Dr Crolla: You are absolutely right, Lord Winston, part of it is under-resourcing; part of it has been a reluctance to change practice, so that quicker tests would have been available had certain practices been changed earlier. I think you are alluding really to prenatal diagnosis results primarily and for karyotypes results from chorionic villus and amniotic fluid. Part of that has now been superseded by molecular testing for aneuploidies and sex chromosome abnormalities, but I think you are absolutely right, you put your finger on one of the difficulties, which is how to radically shake up what is actually quite a conservative profession. I think there are going to be two drivers. Firstly, the White Paper capital investment (and I think this is a slightly later question but if I could use an example now) investment for equipment, which is driving the introduction of novel technologies, is really coming to an end and it was a one-off payment, and it may be the opportunity to look at reconfiguring and re-financing the next generation of very expensive technology for central testing. That is just one idea. I do not know the answer to the way in which you drive professions to do things in a quicker way except for example in America you would go out of business if your test result took 14 days and the lab in the next state's took eight days. You would go out of business and those pressures do not happen here.

  Q227  Lord Winston: I am all for my Lord Chairman's suggestion that this should be centralised but once you are centralised of course you are divorced from the clinical need to some degree and that perhaps represents a problem?

  Dr Crolla: Yes, had there been universal uptake of molecular testing for the aneuploidies clearly that would have been a testing scenario had commissioners driven that forward. It has only happened in Yorkshire and London but had that gone right across the commissioning spectrum then clearly it would have been a complete nonsense to set up QFPCR and FISH right across all the laboratories. That would have been a driver for centralising those tests. The difficulty, as you absolutely point out, is that you are then divorced from the obstetrician who is getting the test. I think Peter has alluded to that and how important if we do centralise technology because it is an economic driver and we do need to maintain that interpretative link between the anelate and the patient at the other end.

  Q228  Lord Winston: Dr Crolla has largely answered my last question but can I ask a supplementary. It is this question of the Genetic White Paper and the funding and then the Royal Colleges' funding which we need to keep up-to-date. I wondered where you felt the investment was really needed. I presume if we are going to be screening then it is going to be with robotics and I imagine it is going to be with more automation particularly with cytogenetics. Do you want to comment on that and how far short are we of those sorts of targets and are there plans for getting that sort of funding in place?

  Dr Crolla: On the first part of your question in terms of cytogenetics specifically and rolling out array technologies, I think the White Paper investment did a pretty comprehensive job of putting that in place. We are right at the beginning of the roll-out phase of that technology, and so I think where the investment needs to go is really in the restructuring of the workforce and the retraining of the workforce because people will no longer be looking down microscopes primarily. We must not get rid of that skill, we must hold on to that skill, but they will not be looking down microscopes, they will be sitting in front of PCs doing bioinformatic interpretation and generating other tests as a result of the results that they are getting. That is where I think the investment very much needs to go at this particular point in time. If you do some blue-skies thinking in looking at high through-put, high volume, fast sequencing, I am not really the right person to ask, but I could ask appropriate people to submit written evidence to your Lordships if you felt that would be particularly helpful. We do have experts in my laboratory whose remit is looking at next generation sequencing and how it will impact on the delivery of genetic services. I could provide that.

  Lord Winston: I think that would be very helpful.

  Q229  Chairman: If you have any further information that will help to amplify and answer the questions please feel free all of you to do so.

  Professor Furness: It might be helpful to chip in a specific example on this point of funding for large equipment. It was anticipated that when the White Paper introduced new developments and new equipment that commissioners would have arrangements to replace that equipment in due course. My understanding is that in some areas a lifetime of five years has been agreed in the budgets over which such equipment will be written off, and that is probably too long, but there are certainly other areas where commissioners have made no provision whatsoever for writing off and replacing the equipment, so we are getting differences of funding in different parts of the country which I think is regrettable.

  Q230  Chairman: Thank you very much. We have appreciated it very much you coming and giving us evidence. It has been a most interesting and informative session. If you have any further submissions you would like to send, please do so. Finally, whilst it came out in your evidence session the areas where you might like to see the Committee focus or even make recommendations, feel free if you want to tell us about two or three recommendations that you would like to see. It does not mean that we will make promises that it will be there but at least we will listen. Do you have any comments to make about that? What recommendations would you like to see?

  Dr Crolla: Put on the spot!

  Q231  Lord Winston: The Chairman is asking you to do our work for him.

  Dr Crolla: I think to address the funding gap as I identified in NIHR; to perhaps look in some depth at the provision of training for clinical scientists within the context of what is actually happening under the Professor Hill initiative, Modernising Scientific Careers. I think we are at a critical point and if we do not get it right now we are going to be regretting it for some time.

  Q232  Chairman: I hope you will do a better job than my profession in making sure that it does get it right.

  Dr Crolla: We will certainly try. Those would be my two principal recommendations.

  Professor Furness: As you probably guess, my principal wish would be for an authoritative national system for the evaluation of new developments and to also provide recommendations on how they will be implemented.

  Q233  Chairman: Professor O'Rahilly, did you want to say something?

  Professor O'Rahilly: I suppose taking a more high level, almost philosophical emphasis, I think what genomic medicine is revealing to us is that human disease is not as simple as we would like to think and that an approach towards medicine which involves ticking boxes and following algorithms in a rather thoughtless way is likely to lead to poor patient care, and that doctors need to be very sophisticated biologists who need to be trained appropriately. Any push towards the more rapid training of less-trained doctors is likely to have adverse consequences in the future. I think that this is one area of medicine and one area of current discovery which is really exposing the great need for the biologically sophisticated doctor of the future.

  Q234  Chairman: Thank you. Dr Rafi?

  Dr Rafi: Two points really. One is education and training, picking up on the last theme. It is really important to provide money for educational input into primary care. The role of the National Genetics Education Centre has been excellent but it would be nice to see spin-offs from there in each region so that you have local genetics education centres that can help train the workforce or educate the workforce in primary care. The other is to have a local resource available within primary care trusts, and there are various models for this—GPs with a specialist interest, perhaps community geneticists or perhaps genetic nurse counsellors—an identifiable resource that is available both for practitioners but also for the primary care trusts as well.

  Chairman: Thank you very much indeed all of you; we appreciate it greatly.

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