Genomic Medicine - Science and Technology Committee Contents

Examination of Witnesses (Questions 20 - 39)


Dr Colin Miles, Professor Veronica van Heyningen FRS, Professor Joyce Tait, Professor John Dupré and Dr Declan Mulkeen

  Q20  Chairman: Can I say that I think we can safely resume again. I think I stopped you in your tracks, Professor van Heyningen.

  Professor van Heyningen: I think we were talking about what MRC has done since the end of the Human Genome Mapping Project. In addition to supporting several units of relevance to the broader genomic studies, for example the MRC Human Genetics Unit but also the Mammalian Genetics Unit at Harwell and Functional Genetics Unit in Oxford and many other individual grants, and there is an MRC Biostatistics Unit and Public Health Sciences which also all feed into the design of experiments and the way in which we use the information for public health sciences. As I say, they have just established a centre for cognitive aging and cognitive epidemiology under Ian Dreary in Edinburgh.

  Q21  Chairman: Do you all feel that the current investment in genomic science is at the level that is required on the basis that science is advancing?

  Professor van Heyningen: No, I did not say that.

  Lord Sutherland of Houndwood: It would surprise us if you did.

  Q22  Chairman: You were trying to convince me, I thought, there?

  Professor van Heyningen: No, I think there is a lot more to do.

  Q23  Chairman: I was trying to get you off speaking for MRC and get you on to speaking as a scientist.

  Professor van Heyningen: As a scientist, I think there is going to be a very great requirement for sequencing technologies and for the use of arrays in order to analyse patient samples now, individual patient samples, and I do not think we have got the capacity for that in the UK at the moment.

  Q24  Chairman: Is it the capacity that we need to address?

  Professor van Heyningen: Yes. It is quite expensive at the moment, but the price will come down. But as the price comes down, there will be more and more calls to use the technologies, so ultimately I think it is going to be quite a lot of money.

  Q25  Lord Colwyn: Is the cooperation such that there is no duplication of work in different centres?

  Professor van Heyningen: I am not sure I am fully conversant with that. There is a great deal of cooperation and collaboration between different centres, especially in the clinical genetics area and the use of patient samples. I think the UK really has a very strong record in the collection cohorts nationwide and that is partly because we have a very good general health service system and we can identify patients on a broad front, but the optimal patients and families are collected and have been collected for a long time, and once collected if they are collected well they can be used again and again and really you get much more benefit from studying some of the same cases again as more information comes up, so that you can go back to families. There again, I think some of the legislative aspects might need to be looked at because sometimes it is quite difficult to go back to families. Even though I think the families themselves very much want it, we are debarred from that by the kind of ethics permission which we receive.

  Q26  Lord Colwyn: Having been involved with biotechnology and aware of the hundreds of thousands of pounds, millions of pounds which are spent on patents, can you remind me of the situation on patenting genomic information? Is it patentable?

  Professor van Heyningen: Well, yes. Malcolm Dunlop told me that they have patented (I suppose through Cancer Research UK because he gets quite a lot of funding from them) all the genes which he has just been involved in identifying. Actually, I talk about Malcolm Dunlop because I know him, but it is a big, big collaboration, an international collaboration. There is certainly a European arm, but he also interacts widely with North American researchers and I guess they have patented these genes which they have identified together.

  Q27  Lord Colwyn: That is something you have to accept?

  Dr Mulkeen: Patenting in the context of a function rather than patenting simply because I have discovered this?

  Professor van Heyningen: Oh, yes, the function.

  Dr Mulkeen: If you are at the stage where people are patenting it at the moment of discovery without knowing what it was going to be used for, that would be a huge obstruction to progress.

  Professor Dupré: I just want to comment on that. There is a real problem with patenting genes. So much of the tendency of the scientific development over the last few decades has been moving away from the notion that there is a thing there which has a linear sequence of consequences, so that when you identify the function you finally know what that gene is. Now we have realised that genes are just resources which are used in sometimes thousands of different ways in the body. So there really is a very serious problem of creating obstacles to research by patenting, by intellectual property in bits at the bottom of the process. So I think there are real issues about how intellectual property should function that we really have not got very good answers to as yet.

  Chairman: We might come to that in greater depth.

  Q28  Baroness Finlay of Llandaff: I wonder if I could ask about biobanks, because their aim is to increase the knowledge of genetic and environmental issues and how they interact in health and disease and the hope is that this will underpin discovery of new ways to treat different conditions. I just wondered for which classes of diseases you envisage there will be new ways of prevention and treatment revealed and under what kind of timescale, and linked to that it would be helpful to know whether you feel there are any gaps in the legal and regulatory framework governing biobanks at the moment, either to help or hinder that process? Is there a need to unify common law and legislation on consent, privacy and benefit sharing?

  Dr Mulkeen: Can I maybe start with the question of the scope of biobanks? MRC along with the Wellcome Trust and health departments is sponsoring Biobank (with a capital B), which is the first and largest of the world's initiatives in the area. It has got a target of half a million and it has passed the 100,000 mark after a year of recruitment. There are dozens, in fact hundreds of smaller scale collections which are very important and focused on individual diseases. The pooling of those, because some of them are historical collectors, is a very important issue. We need to invest significantly more in helping researchers who have those collections to pool, because the way you might curate and annotate disease types of information and the way you might have done the tests on your cohort or your biobank might be different to those of the research group you want to collaborate with. It is hard to point to an area of human medicine that will not benefit from access to either DNA collections or pathological specimens, or repositories of infectious disease strains.

  Q29  Baroness Finlay of Llandaff: I want to explore the regulatory frameworks when this coming together happens and then whether people have to go right back to the beginning again, and consent issues, and so on.

  Dr Mulkeen: I will hand over to Joyce.

  Professor Tait: I think there are several issues in these areas, particularly in biobanks and, I think, the challenge of getting the right balance between protecting the privacy of the individual and enabling the public benefit that is there to emerge, and certainly Graeme Laurie has contributed to the AHRC Centre's submission, pointing out that in the committee the chairs in Scotland is trying much more to get that balance right with a view to maximising the public benefit that arises from a genetic databank, whereas the committee which has a similar function in England is tending more towards the protection of the privacy of the individual. Both are equally valid aims and there is pressure for both, and I think it is something which needs to be considered rather than saying one is right and one is wrong. It would be very interesting to look at that comparison and see where the balance of benefit arises given the two different ways of approaching it.

  Q30  Chairman: I would like to move on to the funding for translation and the new systems put in place, for instance the Office for Strategic Coordination of Health Research (commonly known as OSCHR). That is established to try and translate health research into healthcare and health economics. So the question therefore relates to whether that has altered in any way the funding of the funding councils now that there is another stream of funding. Also, originally it was the Department of Health and the old DTI which were jointly responsible but now the DTI does not exist. Has that produced a gap in the policy formulation or in the managing of this, and are there tensions when setting priorities for spending on genomics and other health research areas between OSCHR, MRC and the National Institute for Health Research?

  Dr Mulkeen: It is a complicated question. I will deal with the last part first. The level at which we discussed priorities with OSCHR at the time of the last spending review and the level at which we are discussing priorities with OSCHR does not go down to the question of, for example, the balance between MRC spend on clinical and population genetics versus mass models, and so on. There are certainly tensions. As you have heard, there are lots of things we ought ideally to be spending more on in the UK and there are difficult prioritisation decisions, but most of those are within MRC. Going back to what OSCHR has changed, I would highlight two main things. One is on informatics coordination, not so much the question of raw computing power to support bioinformatics and association and modelling of genes in system, but at the Connecting for Health end and radiating out from Connecting for Health, where under UKCRC coordination and latterly under OSCHR there is a committee which Ian Diamond, the Chief Executive of ESRC, chairs looking at the scope for e-health records research and looking at what are the foreseeable uses of the Connecting for Health initiative in research, especially in areas like patient outcomes, surveillance, extracts of information for epidemiology, and then charging a second group led by Alex Markham called the Connecting for Health Research Capability Programme with developing those. That is well funded by the Department for Health. You might want to check the exact figure with them, but I think it is in the region of £50 million available for developing those aspects of Connecting for Health. The area we are now talking about looking at, together with the National Institute for Health Research, which I think will become a major issue for all of us in medical research over the next year or two, is the more translational area of informatics, looking at how we provide the support systems and expertise which will draw together proteomic, genomic, all the other "omic" data with the data around intensely phenotyped subgroups of patients the richer datasets that you would not reasonably expect to go into Connecting for Health and making sure that that network of information can connect well with Connecting for Health when appropriate and can be exploited well in clinical trials informatics. I would highlight that as one of the areas where we probably will need to spend quite a lot more over the next couple of years. The other area where OSCHR has made a huge difference, of course, is in helping the Treasury decide to put a lot more money into translational and experimental medicine. That has helped us fund the second of the calls for biomarkers that I mentioned. It has helped us fund the initiative which has just completed on intensively phenotyped patient subgroups and it is also helping fund the developmental pathway scheme which will be launched tonight actually, which will provide more milestone-based funding for medical researchers who want to move new ideas further into clinical application or to add value to them to get them exploited. That scheme should be particularly useful in helping translation in the more complex areas or areas which are higher risk because they are scientifically innovative and not necessarily the most popular area for private sector investment at this stage but which might be very important in the future. Those will be the two main areas where, as I say, OSCHR has made a difference in the first year. There is more to come.

  Chairman: Thank you very much.

  Q31  Baroness Perry of Southwark: I am sure you recognise that to the ordinary public the most important thing is whether all this genomic medicine will actually translate into interventions which will help their own health. My question really is, how will the Research Councils evaluate whether any newly identified low penetrance susceptibility genes will be useful in identifying these practical interventions?

  Professor van Heyningen: I think this is a very difficult area because we are so much at the beginning of this adventure in a way. As I say, it is going to be some time in most disease areas before we can use the collected data to give any sort of risk assessment to individual patients because there are so many genes involved in common diseases. I myself work on much more simple Mendelian diseases and there we are using genomic information to tell people what causes their disease at a much higher rate, but those are much less frequent abnormality diseases. So I think for common disease I am sure that the whole synthesis of the interacting pathways will give a lot of information. I do not know how we are going to gauge the efficacy of the advice which can be given to patients. I think there will be new approaches to disease management, therapy, but also prevention, and of course interaction with the environment is a major aspect of all this. So I actually think that a lot of the effort is going to have to be at the social science level, because we can already tell people that they are at increased risk if they smoke, but it has taken about 50 years until we have abolished smoking in public places, so the timescale is much longer than one expects.

  Q32  Baroness Perry of Southwark: Do you think there is a danger that people will find this new development the answer to all their problems, that they will not have to bother with lifestyle and environmental issues and that scientists will sort it all out for them, so to speak? How are you going to tackle that as Research Councils?

  Professor van Heyningen: I think that is a real danger, but it might not be a task for the Research Council. I really think that early education and getting information—not indoctrination but really trying to get people to understand from an early stage how important lifestyle is, that would be very useful.

  Professor Tait: The ESRC does have some research from the Cesagen centre which it set up indicating that if a person is informed about their genetic predisposition to a disease and about the lifestyle changes they can undertake, they are much more likely to seek medical solutions to their problem rather than lifestyle changes. So they are more likely to want a pill to fix this problem than to say, "I will change my lifestyle."

  Q33  Chairman: So how do you change that perception?

  Professor Tait: I think Veronica is right. I think at the school level, if you can get to pupils. It is not really the Research Councils' function to spend a lot of time and effort on this, although we do quite a bit of it. I think a concerted effort to get to the young people early -

  Q34  Chairman: But it is your function to try and change the policy?

  Professor Tait: Yes, exactly.

  Professor van Heyningen: Yes.

  Q35  Chairman: So what are you saying about what changes in the policy are required, or regulatory policies required?

  Professor Tait: I do not myself know enough about education at the school level to say how that needs to change, but I do think there are changes which could be made in terms of how you make the science that people are learning relevant to their everyday lives and teach them science in the context of their own lives in a way in which they can then connect with it and make changes and maybe also change their parents' lifestyles as well to some extent.

  Professor van Heyningen: I was going to add that I think there is a perception around, which is obviously not very well informed, that the drugs can cope with everything, but most of us around here know that there are no drugs which do not have some side-effects. Aspirin has been around for a long time. It has lots of beneficial effects, but it still has dangerous side-effects and you cannot just take even aspirin on a routine basis. I think most of the population just do not understand this, but I do not know how the MRC is empowered really to tackle these aspects of popular perception.

  Q36  Chairman: No, the MRC might not be, but the question is whether you feel it is important that somebody tackles it?

  Professor van Heyningen: Yes, definitely.

  Professor Tait: Yes.

  Professor Dupré: You should not assume that there really is a very good solution to this problem and partly, I suppose, we have to be careful in assuming what people actually want to get out of this. I think we have this situation really with statins. I think it is pretty clear that people do take statins as an excuse for not moderating their diet and it may not be anything that a medical expert would recommend, but it still may actually be something that people are making rational decisions about in a certain sense.

  Q37  Chairman: But we did make it freely available, did we not?

  Professor Dupré: Obviously, yes. That is something that we could consider.

  Dr Mulkeen: Could I just add on the point of there being no easy solutions to the question of behaviour change, in 10, 15 or 20 years' time, or whenever large scale use of genomic-based tests becomes part of healthcare, the costs of gathering the genetic information will be much lower than the costs of actually interpreting it, which in turn will be lower than the cost of communicating that to the patient in a useful way. What Research Councils can do is help to build up not just the sociological side that understands how people react to this information, but also perhaps some of the methodologies that will allow healthcare systems to choose where it is worthwhile doing this. You could imagine a failure of translation which was not about not having information but being swamped by information with a lot of unnecessary test being done which were not actually at the end of the day improving people's lives and prioritising in the smartest way is going to be quite a challenge over the next 20 years.

  Q38  Chairman: What the Research Councils can do, should do or will do?

  Dr Mulkeen: We will certainly be building up the area of methodology and one of the other challenges which OSCHR has given MRC is to develop a new methodology research programme which will not just meet the needs of MRC science but will be able to meet the needs of NICE, MHRA and industry, and we expect that as we consult on what questions people are going to need help with areas like this will be pretty high up the priority list.

  Q39  Baroness Perry of Southwark: Is there not for the research community, and the medical research community particularly, an ethical problem for you in that you need to in a sense convince the public in order to continue to get funding from Government, which responds to public pressure, that there is a magic pill or a magic solution, or a magic genetic finding which is going to solve all their problems, while at the same time you are conscious yourselves that this is not going to be the answer to everything? You have a kind of balance of ethical difficulties for yourselves, do you not, here?

  Professor van Heyningen: Yes.

  Dr Mulkeen: We try very hard in our communications policy to avoid what you see in some other countries where every time a new gene is discovered researchers are under pressure to rush out and sell this to the public and the media as the breakthrough that will solve all the problems. I think, looking at comparisons around the country, we do a pretty good job in the MRC and across the Research Councils of moderating that expectation.

  Baroness Perry of Southwark: The media still tends to translate it into solutions only a year away!

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