Genomic Medicine - Science and Technology Committee Contents


Examination of Witnesses (Questions 180 - 199)

WEDNESDAY 11 JUNE 2008

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

  Q180  Chairman: We have to write our report so that a common person understands it and not scientists like you.

  Professor Furness: I do not envy your task!

  Q181  Chairman: The summary would be that where the science is going suggests that there will be the translation of the science into clinical medicine, both diagnostic and the testing of diseases?

  Professor Furness: Yes. The translation will be difficult, though, for the reasons we have explained.

  Q182  Chairman: Do any of the others want to comment?

  Professor O'Rahilly: I am Steve O'Rahilly. I am Professor of Clinical Biochemistry and Medicine at Cambridge. I am a practicing physician and biomedical researcher and I am here for the Academy of Medical Sciences rather at the last minute. Giving some concrete examples sometimes gives a good flavour for what sort of sudden jumps can occur. When you are sitting in a regular diabetic clinic the assumption is that everyone looks the same because the people have got a disease called diabetes. A wonderful researcher from Exeter Andrew Hattersley recently decided to look at people who have had diabetes from birth and by using genetic techniques he found that a very large number of people who had diabetes in the first few months of life had a particular mutation. All of those individuals, even after 30 years, could be taken off insulin and put onto a tablet and they became insulin-free, having been a slave to this injectable drug for many, many years. It caused dramatic changes in their health benefits. The problem is it is a rare condition, but it is a real example of where the use of genetics suddenly unleashes a real change in clinical practice. A lot of the genome-wide association studies, et cetera, are wonderful insights into the biology of disease but their immediate translatability is not obvious. On the issue of dissecting the heterogeneity of what we think is a common disease, you go to a doctor and he thinks you have got diabetes, he thinks you have got obesity, but in fact those diseases are sub-dividable. What genetics is doing increasingly is actually helping us to subdivide those into separate entities, some of which may end up having specific therapies. That is where the rubber of genetics hits the road of clinical practice.

  Dr Rafi: I am Imran Rafi. I am a GP in Surrey and co-chairman of the Primary Care Genetics Society. As an end user, we are not really doing a lot of genetic testing in primary care, but we are being exposed more to aspects of genetics. For example, population screening, the sickle cell haemoglobinopathy programme, is going to impact on primary care. Also there are tests that specialists use that we are increasingly aware of that do affect patient management. For example, where patients are prescribed Azathioprine for whatever disease they are being treated for, the expectation now is that they get tested for a certain enzyme influenced by genetics which affects Azathioprine metabolism. I think our exposure in primary care is going to increase. We have seen that with cancer care in that where perhaps 20 or 30 years ago we would get a letter from the specialist saying, "This patient has got breast cancer. We plan to give them surgery and then radiotherapy or chemotherapy," now we get letters which come back stating that this patient has got breast cancer and we also get information back about the tumour and the tumour biology. I think that over time clearly patients will get more multi-gene profiling which will aid their treatment. Primary care does have to be ready. .

  Q183  Chairman: Would anybody like to comment as to who should be looking at the risks and benefits of genomic tests? Is anybody looking at it?

  Professor Furness: The UK Genetic Testing Network is, in relation to conventionally inherited disease.

  Dr Crolla: I am John Crolla. I am here representing the Joint Committee on Medical Genetics and the RCP. I am a clinical cytogeneticist with a special interest in the translation of genomic technologies for high resolution analysis of the genome for inherited disorders. My expertise is very much on the constitutional side. I think this is an extremely complex issue, as Peter has already underlined, and I think it is going to be of some importance to unpick how the translation of genomic science is going to be implemented with the greatest effectiveness. Your question here is whether genomic science to the clinic will take many years or will be rapid. I think the answer is that in some cases it will be relatively rapid, as we have seen from Andrew Hattersley's work, but in other areas it is going to have to be much slower because the evidence base needs to be built up. I think there is a danger of impatience and pushing things a little bit too quickly so that we do not get a thorough evidence base on which to make prognostic, therapeutic and diagnostic decisions and I think that this is an important consideration. Which body oversees this? There are various models that have been discussed. The RCPath and the Public Health Genetics and Genomics Unit in Cambridge have looked at the implications of genomic medicine and molecular pathology testing in the broader context and have made several recommendations which I am sure are available to the Committee. My view is we need caution and we need time because the pace with which the technology is evolving can overtake the way in which we have to analyse and interpret the data.

  Q184  Lord Winston: I am very grateful for Dr Crolla's caution. I am really troubled, gentlemen, because I am worried that you are looking at this through rose tinted spectacles. When we talk about a £1,000 or a £10,000 genome sequencing I am inclined to say, "So what?". I agree that the single gene defects for certain rare diseases may be jolly useful, but it seems to me that what we are not taking account of the epigenetic effects which occur during development which may radically change somebody's response to environmental influence later on, which therefore means that the genome may pay very little respect to the development or otherwise of the disease that we really want to screen for, including diabetes. I wonder if you would comment on that because it seems to me to be absolutely critical in understanding whether or not we really can use the genome to really benefit large swathes of the population. I am seriously doubtful about that.

  Professor Furness: I think when we had the meeting in this room a few months ago we heard the evidence about the prospects for identifying increased susceptibility to common diseases from such large investigations, which is essentially a tool to permit targeted population screening, so we then get into the question of evaluating the cost-benefit analysis of population screening programmes. We have seen already the difficulty and the arguments around introducing the screening programmes that we have already got, such as cervical screening and breast canner screening, which are technically much simpler but, nevertheless, there were enormous and prolonged arguments about the costs and benefits. I am sure you are entirely right to be cautious there. One of the problems that were highlighted by the report which John Crolla has just mentioned from the meeting which I co-organised is the difficulty of generating exactly that evidence of clinical utility. Will it actually affect patient care? It is very difficult to generate that sort of evidence. There is a problem with funding research to provide that sort of evidence, which we have discussed. Even if the evidence is there—and it is usually pretty flimsy—there is a problem with evaluating and allocating the responsibility for evaluating that sort of evidence. The basic science is moving ahead at enormous speed such that the relatively cheap genome analysis will soon be with us, but the tools for turning that into logical decisions for the whole country we feel are not in place.

  Professor O'Rahilly: I share some of your caution about the practical applicability of some of this technology, but I would point out a few things. While epigenetics and programming are clearly important, that does not mean that the data which supports the heritability of many common and complex diseases is not true. I think everyone who works on them would say that the heritability is pretty reasonable for many of the diseases. There is a genetic component. It is not the whole story but it is the epigenetic and nutritional and heritable programming that is layered on to a heritable predisposition. Secondly, the driving force behind a lot of these large scale genetic studies is not necessarily to make them into a diagnostic for public use, it is to understand disease pathways and biology and to aid the pharmaceutical and biotechnology companies who might be able to perturb those pathways to treat people irrespective of their genotype, but understanding how a disease happens and what the components are of it are potentially enormously helpful to industry in terms of its attempt to find better therapeutic services. With some of these diseases there are very limited amounts of therapeutic options, so if you know that a particular pathway is involved in the development of that disease you may be able to manipulate that pathway. Thirdly, I think it is a mistake to say that genetics is a very useful tool for these rare individuals with single gene disorders and then the rest of the diseases are something different. One is going to segway into the other. In my own field of obesity genetics, for example, 10 years ago people just thought if you are fat you are fat, it is just a bunch of fat people. In fact, the heterogeneity is such that there are now 10 different monogenic disorders. These people just look fat, but they have a single gene that is causing them to be obese. These genes are on particular pathway and on one very rare occasion we are able to do something about it. The principle would be that these diseases that look like they are all the same (and, are not in your category of the interesting monogenics) will turn out after appropriate research, to contain rather simple genetic disorders hidden within the complex phenotypes that are present.

  Dr Rafi: I suspect that in 10 years' time I will probably be doing essentially the work that I am doing today, which is still trying to promote good health, trying to change people's behaviour to reduce weight, reducing heart risk and so on. I think where genomics will help will be as an extra tool where perhaps, as stated already, we can target the patients who are particularly at high risk and use genomic information to aid management in those patients. I suspect the nature of the job will not change.

  Dr Crolla: Having introduced the note of caution, I want to underline the enormous excitement and enthusiasm for the translation of genomic technology into diagnostics. There is a lot of enthusiasm within the NHS infrastructure, particularly within the genetics laboratories and in the evolving molecular pathology disciplines. There has to be caution but there is also a great excitement and enthusiasm. What we need to really have time to do is a proper evaluation and have the infrastructure developed so that we can do this translation in a systematic way. I think that is a point that needs to be addressed really quite urgently because it has implications right across the spectrum in terms of who we recruit, who is going to be fit for purpose in five years' time in order to do this diagnostic work, to do the interpretation, how are we going to train them and how are we going to embed these technologies and, also, horizon scan because this is another major issue. Peter has alluded to the fact that there are various estimates as to how quickly one can move from the whole genome scanning to epigenetic analysis. I just want to balance the caution with the enthusiasm, but we do need to get the structures in place to get the right people to deliver the service to the population via the NHS.

  Q185  Lord Colwyn: The Academy of Medical Sciences described the high risk for Crohn's disease and type 2 diabetes in individuals who carry several of the susceptibility genes. In America last week we saw examples of other genes and other high risk diseases. For example, for type 2 diabetes and Crohn's about 0.1 per cent of the population have a 10-20 increased risk of developing these diseases. Given that this test will soon be available for 50 or so of these common diseases, is it likely that these tests will show a significant proportion of the population have a 10-20 fold increased risk of at least one common disease?

  Professor O'Rahilly: I saw this document yesterday for the first time. I was not involved in its genesis.

  Q186  Chairman: Did you agree with it?

  Professor O'Rahilly: I know its authors and you do not necessarily ask barbers if you need a haircut! Peter Donnelly is the leader of the Wellcome Trust Case Control Consortium who has been a major driver behind the data, and of course he would be bullish. He would not be in the job if he was not bullish about the power of this technology. As an end user and not someone who has been centrally involved in this I would be a little more cautious about those interpretations. For example, in type 2 diabetes, where 5 per cent of the population get the disease, a 50-fold increase would mean 250 per cent. You cannot get that increased risk, the background is too common. There are certain disorders which the novel genomics have found such as adult macular degeneration where the predictive power of some of the snips that have been had are enormous; carriers really have had a hugely increased risk. If you could find those people at risk when they were 50 and design some clever preventative therapy based on the knowledge of the disease and stop people going blind that would be a wonderful use of genomics, to prevent blindness in old age on the basis of understanding the people who are susceptible and doing something about it. That would be really bullish and possibly achievable Crohn's disease is a relatively uncommon disease and it is the best example where the genome-wide scans have found many genes with a strong influence. Yes, you probably could find a group of people in the country who would be highly predisposed to Crohn's. It would be a relatively small number of people. For things like type 2 diabetes we have found new pathways, we have found new genes, but the ones we have found to date represent a very small proportion of the risk. In fact, the nay-sayers of this say that if you compare the power of asking someone two questions, "how fat are you?" and "do either of your parents have diabetes?", then you get just as much predictive power as using the combined genes that are currently available for type 2. These gene effects are real, the data is believable, but together they explain only a small fraction of the heritability of type 2 diabetes. What is coming out of these genome-wide association scans is really a case of " a glass half empty" vs. "a glass half full"; it is exciting that for the first time we have found new genes that are predisposed to these diseases and they are real and they are believable and they are not false positives, they truly really are involved, but despite throwing a large amount of effort at it they explain only a small fraction of the heritability and probably there is going to be tremendous heterogeneity based on the fact that the genome is much more variable than we thought it was. The nightmare scenario is that everyone's disease is unique and that everyone with type 2 diabetes has it for a different set of reasons and that is going to be hard to handle. There have been some failures of the genome-wide association studies. Hypertension and the bipolar disorders have not, so far proven particularly tractable to this approach even though their heritabilities are quite high. At the best end this could really provide tremendous predictive power for certain diseases, macular degeneration, Crohn's disease, but as you get down to other diseases then I think you have to be cautious. I think it will be tremendous for finding new pathways, for understanding potential routes to disease, for helping the pharmaceutical industry, but in terms of us all having our personalised print, my personal opinion would be that we need a huge amount more information before we go down that route.

  Professor Furness: I do not propose to get into discussions of guessing how and to what extent this will impact in terms of what is possible, but I think the example of Crohn's disease does provide a very useful illustration of what is meant by clinical utility "We can do it. Is it worth doing?". If you could easily screen the population and detect the one per cent who are at high risk of developing Crohn's disease it might look like a useful screening procedure, except for the fact that people who have developed Crohn's disease present with abdominal pain, diarrhoea, constipation, a whole load of symptoms that make you think at that point you now need to do something about it. You probably do not need to do anything beforehand, in which case the clinical utility of knowing what you are susceptible to is zero, arguably. Another example would be if we could identify a constellation of genetic changes which meant that someone was at very high risk of developing high blood pressure. That is a disease that causes lots of damage with no symptoms. If you find it early you can treat it, prevent the damage and prevent the strokes, heart attacks and so on. So there you would probably have a very good case for whole population screening. If you do screen the whole population you will presumably pick up a few of the rare diseases like Huntington's, where if you have got the mutation you are going to get the disease, it is definite, but if there is nothing you can do about treating the disease. Again we are back to clinical utility and do people really want that information? The number of questions that are going to have to be answered in terms of decisions on what the health service should do in this country are legion and systems that we have at the moment, such as NICE, which look at a small number of big issues, are not set up to cope with the profusion of questions that are going to be generated on what we should do with these techniques.

  Q187  Lord Colwyn: Can you make any comment on the Polish screening survey which I think found that in the whole of the population, looking for breast cancer genes, there were 4,000 carriers? Were there any lessons to be learned from that and also problems with lower penetrance genes?

  Professor Furness: That is not an example that I put forward, but I would think it would be an excellent illustration of where you could then target breast screening programmes, as we currently know them, on those who are at higher risk potentially if a cost-benefit analysis demonstrated that that is worth doing.

  Q188  Lord Colwyn: Should infants be screened for low penetrance genes just after birth?

  Professor Furness: I think you are sitting next to a notable philosopher who can analyse that rather better than I would.

  Q189  Chairman: In scientific terms is it worth screening infants for a whole batch of diseases with high penetrance?

  Professor O'Rahilly: We do already screen infants for diseases that we can do something about. I think screening people for things we cannot currently do anything about should be in the realms of research. It is not in the realms of translation into general practice. I am not familiar with the studies you mentioned, but it is perfectly reasonable to do research studies asking what would we find if we did this, but moving it into clinical practice is a different issue. It has to have a health benefit for the individual.

  Q190  Lord Colwyn: Early screening would surely give you some views on lifestyle and how it should be led in the future. Is that not important?

  Professor Furness: It depends on the disease. If you are dealing with a disease where we are not aware of lifestyle changes that can impact on the outcome, where is the value? If you are dealing with heart disease, for example, you are probably right.

  Chairman: We heard for instance that the NIHR are looking at a plan to screen all infants for some 23 different diseases, some of which will not have a treatment.

  Q191  Baroness Perry of Southwark: Are we not pushing the translation imperative a little too far for the stage which the science has reached? In any research there has to be a very long period of blue-skies, non-applicable research before anything emerges that could become applied. Outside the field of medicine that is true as well. What is happening, surely, is that we are learning an enormous amount now about disease and about the genetic component of diseases and that in itself is very valuable knowledge. Maybe down the line further than we can see now, for some of the diseases which at the moment we say it is not worth finding out because they are untreatable and because there are no clinical outcomes there will be as we learn more and more about the disease. Are we pushing the need for clinical translation a bit further than the science allows?

  Dr Crolla: There are large-scale studies—the UK Biobank studies and a Western Australia equivalent study—which are really designed to tease out these associations on a populational basis. I think perhaps we need again to wait a little. I think there are two questions that arise. The first is the cost and the second is whether there is an intervention and, if there is an intervention, is it acceptable? I think this point has been made several times. If you just want to know for the sake of knowing at this point because at some time in the future that knowledge may be useful, what are the ethical implications of having that information available for that patient knowing that in the future there may be repercussions and implications about which you know absolutely nothing at this point? As a clinical scientist I am driven by the imperative of being asked to do a test based on its clinical utility, based on its diagnostic impact and based on potential therapeutic interventions. I think by moving into this very, very broad area of genomic association studies we are in danger of perhaps going too far at this point—although I am not saying it is not going to be true soon—and I think the seminar that this Committee organised a few weeks ago underlined that point time and time again because not only do we not have the data on which to make these definitive prognostic judgments but we also at the moment do not have the bioinformatic resources in place to interpret these, except within a pure research milieu. Perhaps what we are talking about here is how you would translate that into a diagnostic setting and I think we need more time.

  Professor Furness: I think your point is well made but, again, I would come back to the differences that there are in different areas and the complexity and the vast number of questions. I have already given one example of a molecular method for distinguishing two different groups in what we thought was one type of lymphoma where if you know the difference you know whether the treatment is going to work or not, and this is a very nasty toxic treatment. At the other end of the spectrum, you have heard the example of genetic screening for bipolar disorder, manic depression, on which the current opinion is that it is not worth doing. That has not stopped commercial companies from marketing it direct to the public over the Internet. The underlying problem is that we do not have the system for evaluating when we have stood back for long enough and evaluated the evidence; there is no co-ordinated evaluation system. You get this discrepancy: people leaping in on inadequate evidence at one end of the spectrum and not acting on good evidence at the other end of the spectrum.

  Q192  Baroness O'Neill of Bengarve: I found the distinction in the Royal College of Pathologists' submission between clinical utility and clinical validity very useful. Am I right that what we are now discussing is how you take a second step, having established clinical validity, in order to establish the utility of a given test or possibly the use of a test as a screen? You have just pointed to an example of the disorganised and helter-skelter nature of the response with some of the commercial organisations jumping and others holding back. I think one of the things that is proving pretty hard, at least for me, to get my mind around is what structures do we have and what structures should we have in order to make that transition. We have a lot of bodies here with a lot of different, and sometimes perhaps overlapping competencies, and it seems to that me that we do need to gain some understanding of who could fund research into the utility—it is I think clinical research that is needed here—and is such funding now going on? Is NIHR able to fund it; if not they, who?

  Dr Crolla: That is to the nub of the problem that I think that Joint Committee's submission also underlined. In terms of pure research I think there are adequate funding streams through the MRC, Wellcome and charities with specific interests. The problem comes in the translation between the research funding and being able to demonstrate its clinical utility in a clinical setting. Historically, laboratories were able to access Culyer funding in order to underpin some of that R&D within the laboratory structure but that funding has been withdrawn. I do not think we have any problems with a much tighter and a much more peer-reviewed process replacing the Culyer top-sliced funding stream through NIHR, but NIHR excludes laboratory-based research from its current calls. The Joint Committee has tried to enter into a discussion with NIHR because several members have reported that there is a funding gap, and I think that NIHR would be the place that we would look to to create specific funding streams. The MRC has recently announced a call for translational research and I am not quite sure how that is going to map out. It is a new call and we need to look at it and evaluate it and see how successful it is, but NIHR from the evidence that I have to hand and from my personal submissions, they simply do not get past triage, they do not go out to peer review because they do not fit the current calls. I think that is a serious issue and if the Select Committee could in some way influence the NIHR funding streams so that area could be addressed, I think that would be very valuable for the scientific community.

  Professor O'Rahilly: I have recently been asked to chair the MRC's Translational Research Overview Group and sit on the Strategy Committee so we can discuss these things. It is certainly true that the new £120 million of Government money to the MRC to do translational research includes the evaluation of diagnostics and not just therapeutics and so there should be new money from the MRC specifically with the goal of translation, and of course translation of diagnostics is exactly what we are talking about here. I do agree that it is a gap in NIHR's funding criteria. I think NHIR has done a fantastic job in the last year or two under Sally Davies to really be imaginative and to work together under OSCHR to try and get all this right. I had not realised that they had specifically excluded laboratory-based research. They obviously do not do that in their Bio-Medical Research Centres (BMRC) because within the BMRC funding umbrella, NIHR very much emphasises laboratory research, but they are in limited geographical areas and may not be co-terminous with the centres of genetic excellence. That could be a problem and I agree, John, that NHIR should perhaps look at that and see that these tests are just as an important part of the patient management experience as treatments or interventions.

  Professor Furness: Those two responses concentrated on doing the translational research to work out whether something has clinical utility. The next step of course is making the decision on when is the evidence good enough to spend the money. There have been some new developments since we submitted our written proposals in that area. They are new proposals and not physical developments that I think I should mention in that the Department of Health in Connecting for Health has recognised that it needs to have a catalogue of all the pathology tests that we do, all the laboratory tests that we do, which is itself proving somewhat challenging. As part of that, and I think I can say partly because of the arguments we have been putting forward, they have now very recently recognised that there will be a need for a mechanism to keep that list up-to-date. They have also tentatively recognised the need to have information about all these tests that will guide when they should and should not be used; for commissioners and also potentially for the development of expert systems to guide doctors in appropriate laboratory testing. We are in the next few weeks having some exploratory meetings with the Department of Health to discuss how their rather static pathology catalogue list might be expanded into mechanisms to cover all this. Inevitably, funding remains a problem. A small amount of money has been identified which we hope will allow a sort of seed-corn development of trying to work out how to do it—and there is no promise of anything long term. I am very hopeful that that approach to making decisions for the whole NHS will go forward because otherwise decisions on how to interpret the research will be left to local accountability and we will have different areas taking decisions on very limited expertise and coming to completely different conclusions.

  Q193  Baroness O'Neill of Bengarve: That has been very, very helpful but I think beyond that there is a level of decision-making that has to address the question of clinical effectiveness and cost effectiveness, some analogue if you wish of NICE. Could you envisage such a body? It clearly does not exist but is there a need for such a body?

  Professor Furness: There is a huge need for such a body. The problem with NICE, as I have suggested, and indeed with all the various government bodies that have an interest in this is that they decide which questions to answer and they pick up a few small, as they put it, "big ticket" issues rather than addressing this vast number of questions, and their model will not work. The organisation which I think has done splendid work to address this problem is the UK Genetic Testing Network in its gene dossier system which has, I think, established a paradigm for doing proportionate evaluations in order to make decisions where a large amount of the Exchequer's money does not necessarily hang on it, but patient care could benefit. We need to expand that sort of system to be able to cope with taking large numbers of decisions, which include how much evidence do you need in this particular case to make a decision? The UKGTN, I think John would agree, is vastly too small to take on this task but it has developed a good model.

  Q194  Baroness Perry of Southwark: I would like to turn to the subject of training and education for health care professionals. A lot of the evidence that we have had suggests that they are going to be a central component to understanding and interpreting genetic tests. Given that the number of such tests coming into clinical practice is increasing, what is being done to plug the gap in genetic and genomic education in the existing workforce and indeed what is being done about the initial training of medical students?

  Dr Rafi: From the perspective of general practice, there is some preparatory work that has been on-going. The National Genetics Education Centre have been working with the Royal College of General Practitioners and they have now devised a curriculum for specialty training which is part of the general curriculum for new trainees going through general practice. They will be tested on genetics in their final examination and, more importantly, to learn about the important facets of genetics and how to get basic genetic knowledge. They will need also to consider all the ethical, social and legal implications of genetics as well. Out of the White Paper in 2003 there were 10 GPs that were funded nationally to work within their PCTs and a lot of the work that these GPs did was to promote education and raise awareness of the value of primary care genetics. Most, if not all, of those projects were very successful in doing that. I think there is a realisation now that GPs and GP trainers who are involved in training GPs locally need to gain genetic knowledge. For example, the London Deanery have realised this and are setting up courses for genetics initally for GP trainees. Also the Primary Care Genetics Society are setting up courses for GPs.

  Q195  Baroness Perry of Southwark: What would your estimate be of the proportion of the existing force of general practitioners that understands enough to be able to counsel and interpret?

  Dr Rafi: There have been research papers in general practice that have looked at this and the overall consensus is that confidence is low. That may be a generational gap and it may be that as new trainees come through and they pick up genetic knowledge through the undergraduate curriculum that they will naturally get a better expertise of genetics but, similarly, you cannot ignore the rest of the workforce. So I think it is really important that the RCGP work with the deaneries who in turn work with local GP trainers to disseminate genetic knowledge.

  Q196  Baroness Perry of Southwark: Last week in America we were told some pretty startling commercial companies' conclusions where people can send off their baby's genetic material and they will tell you whether your child is going to be a star athlete. It will not be long (because it is all on the Internet) before people are turning up at their GP surgeries with this sort of rubbish and asking for interpretation, and it is very important that they are able to reply and to counsel people.

  Dr Rafi: Exactly and being able to recognise from these printouts which patients are at high risk and which can be relatively reassured in general practice without the need for further referral. An anecdote I heard recently was that a patient came to their GP with this printout of their genome and they had 40 tests looking at various diseases. They were referred on to the clinical geneticist who in turn had to contact the company to find out what tests were actually done and then had to counsel the patient for those diseases. It is going to be a time-consuming affair and there are going to have to be service models set up to look at what is the most effective way of being able to provide patients with the necessary support that they need.

  Professor O'Rahilly: One concern I would have about the direction of travel of both undergraduate and postgraduate medical education is that the role of science in the training of doctors has been rather downplayed. With the necessary increase on the emphasis on communication, et cetera, that has sometimes been to the detriment of a basic grounding in hard science. If, with the greatly expanded number of graduates, including new medical schools et cetera, we are creating a new cadre of doctors which is going to be less capable of having a deep understanding of what the science is about; that is a concern.

  Q197  Chairman: We have had this issue about education which we will probably explore with the Colleges too, about wider education (i) about public education in genomics and genetics and (ii) about the education of all health professionals, and particularly the availability of genetic experts and also then to be able to communicate as the science develops and not teach something today and then two years later the world has moved on but they have not caught up. How do you impart continuing education and what should the professional organisations be doing about this?

  Professor Furness: We have structures for continuing professional education and development which are intended to cope with the continuing problems. Whether they are adequate to the rate of change in this field is debatable. John, you are probably the best person to talk about the training of specialist professionals in genetics.

  Dr Crolla: Yes, I would just predicate that first by saying that the National Genetics Education and Development Centre, which is run by Peter Farndon, is also developing core curricula for medical undergraduates. I am not quite sure how far that curriculum has been developed but hopefully that will be rolled out and a cascade of genetic information and knowledge mediated through a whole range of different health professionals and the NGEDC does this, I think, in some very imaginative ways.

  Q198  Chairman: So do you think there should be, as a view has been expressed to us, a centralised responsibility for somebody to impart genetics-based education to all health professionals as the knowledge increases?

  Dr Crolla: This was one of the primary remits of the National Genetics Education and Development Centre. It comes up for a funding review later this year.

  Q199  Chairman: Who funds it just now?

  Dr Crolla: The Department of Health—Diana Paine is sitting behind me—so that is being rereviewed this year. I think that is one mechanism that needs to be looked at and strengthened if necessary. I think through the Joint Committee we have certainly seen submissions where they have done some really excellent work in cascading genetic knowledge. Can I just take your Lordships then to the question of specialist training for our current workforce. What is happening now is a curious mix of initiatives. Currently clinical scientists who aspire to become, like myself, Fellows of the Royal College of Pathologists (it is the only Royal College that admits non-medical graduates) undergo training which currently involves four years of pre-registration training which will be specialist training either in cytogenetics (chromosomes essentially) or molecular genetics (that is DNA). At the end of those four years the Health Profession Council will then register that person as a state-registered clinical scientist and then they either stay at that stage or they enter into higher specialist training which largely is currently relatively unstructured and mostly unfunded. I think this has been an issue for many, many years but has never been adequately addressed. What is now coming up is that an initiative called Modernising Science Careers is being initiated by the Chief Scientist—


 
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