Genomic Medicine - Science and Technology Committee Contents

Examination of Witnesses (Questions 200 - 219)


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

  Q200  Chairman: I hope it does not have the same fate as Modernising Medical Careers!

  Professor Furness: It is worryingly similar.

  Dr Crolla: It is worryingly similar and it is some of the same personnel but, anyway, I will not divert there. The current plan, although none of this is actually written in stone, is that the pre-registration scientist training will be dismantled and be replaced by a generic training, so this will have a flexible workforce, so one day you will be in a biochemist lab, the next day you will be in a haematology lab, then histopathology, and then you can rotate into genetics. All the professional groups have reported back that this does not make sense. It only seems to make sense to the Modernising Science Careers framework. The bit that we do 100 per cent agree with is the post-registration part of the training which will be tenure-tracked, it will be linked to the number of available consultant posts, and will be fully funded right through the FRC Path through the examination system of the Royal College of Pathologists, fully accredited, et cetera. Thus we have a real problem there. What is actually happening of course is that emerging technologies have blurred completely the distinction between the cytology, the chromosome and DNA. The primary analate will soon be DNA and it is effectively already DNA, so if we are going to do a genome-wide test, we will do it on a DNA-based test, be it an array looking for copy number change or an array looking for expression profiling. This has really happened so fast that I do not think we have got the structures in place in order to accommodate this, but I think the professions have really got to get together. The Clinical Molecular Genetics Society and the ACC in collaboration with the RCPath must get this sorted and soon. The other important point I really want to make to this Committee is that we have now regulated ourselves to a stand-still. This is so important and it was brought home to me when my PhD student graduated this year. She had done three years work in my laboratory on array CGH applied to constitutional chromosome abnormalities. She was highly skilled, she was trained at the Sanger as well as in my laboratory, and she decided to go to Italy and she has now got a job setting up a diagnostic array laboratory in Italy. I could not have offered her a job in the UK except as a technologist.

  Q201  Chairman: Why?

  Dr Crolla: Because in order to undergo the regulatory training she would have to go back to supernumerary grade A training, do four years, learn how to read chromosomes, and then go into higher specialist training, so she would enter into a training programme which actually was going to not make her fit for purpose.

  Q202  Chairman: I see why you say "worryingly similar"; there is no flexibility at all.

  Dr Crolla: That is an important point.

  Q203  Baroness O'Neill of Bengarve: I wanted to put in a small and slightly provocative supplementary at this point. How far should the NHS take responsibility—and I think this is particularly a question for Dr Rafi—for interpreting tests that people have got over the Internet? Might it not be better to say, "You got this; you paid for it; I am not even going to advise you on whether your money was well-spent. You come to me with a symptom or no symptom."

  Dr Rafi: I think most GPs would want to try and support their patients and if—

  Q204  Chairman: They are not your patients at that stage, they might be on your books.

  Dr Rafi: They are still your patients and it is in the same way that they come to you with the results of a general health screening that they might have had done privately. I think most general practitioners would be happy to help but it is really having the competency to be able to deal with the information that you have got. In terms of competency, the RCGP are providing a competency framework for practitioners who want to specialise in genetics within their PCTs and that has largely arisen out of the work that the National Genetics Education Centre did with the GPs with the specialist interest. The whole point of education is to be competent to be able to deal with the questions that you have framed.

  Professor O'Rahilly: When you mentioned the patient it struck me that there was an anomaly there with the fact that patients with cancer, for example, who go "off-piste" and buy drugs essentially are banned from having continuing NHS care. It is a disgrace but clearly we are treating therapeutics in the NHS rather different from diagnostics; in other words, you can go out into the private sector and get diagnostics and generate cost and income for the NHS. I agree that it is an anomaly and we certainly do not treat the two the same.

  Dr Rafi: The likelihood is that a lot of these print-outs are going to generate low relative risks for these diseases and there are going to be one or two that are going to be particularly high risk, and it is being able to identify those and being able to help the patient through the NHS system if they need that help.

  Professor Furness: Could I make a lateral link at that point because part of the problem with direct-to-the-consumer testing is that the consumer has no idea what he or she is buying. If we had an established system whereby all the tests that the NHS regards as being clinically justified, and maybe a few that it does not, are on a database where information about them is available to general practitioners and to the public, then you would have a resource first of all for the GPs to answer those questions relatively straightforwardly: "Here's what the official answer is about that test." You would have also have a resource for members of the public to look up and decide whether or not this is worth doing or not. That is even without going down the route of legislation to control what may or may not be offered to the public, which I think in some circumstances there is quite a strong case for, but even without that if you provided the information, if the information is there and accessible you have removed a lot of the problem.

  Q205  Lord Colwyn: I think in the States taking a test included an interpretation of the test. They have got it down out there to a $1,000 a test now but the quality of the interpretation varied dramatically between the different laboratories.

  Professor Furness: And the commercial pressure to avoid saying, "Here's something we have picked up but it does not make any difference."

  Q206  Baroness Perry of Southwark: I want to turn to the question of commissioning but just before I do that could I press Dr Crolla, the Joint Committee says in their evidence that more genetic counsellors are needed. Are people not coming forward in sufficient numbers to do the training or is there not enough training being provided?

  Dr Crolla: I think for genetic counsellors it has been a great success story, and certainly under the White Paper initiative there were a number—I cannot remember the exact number—of new genetic counsellors that were recruited and trained, but I think the demand for genetic counsellors is growing at the rate of the number of tests and scenarios which require interpretation of diagnostic tests, so I think that was part of the submission. Yes, it has been a great success but we need to expand that.

  Q207  Baroness Perry of Southwark: We need to expand the provision; people are coming forward willing to be trained? That is my question.

  Dr Crolla: Absolutely, yes.

  Q208  Baroness Perry of Southwark: Turning to the question of commissioning, the Joint Committee on Medical Genetics say in their submission that commissioning is not structured to react to the rapid change that is happening and as a result the introduction of genetic testing is patchy and inconsistent across the country. Given that commissioners have very limited understanding of the details about genetic testing, does the existing policy framework for example enshrined in the NHS Genetics Team, need strengthening and if so how?

  Dr Crolla: I think the take-home message here, as Peter has alluded to, is that the UKGTN as currently structured is very focused on dealing with disorders with DNA as a primary analate and developing gene dossiers which have the correct level of clinical utility and interpretation built into them, so that is a recommendation that then goes to GENCAG for acceptance, and specialist commissioners sit on GENCAG (I sit on GENCAG) and that mechanism works very well. What does not work is that there is then very patchy uptake by PCTs etc of the recommendations of GENCAG for the uptake of tests which have been approved by the UKGTN Gene Dossier Committee. There are all sorts of different reasons for this. It is very low on the list of priorities of Health Service managers; the PCTs are too low a level for the commissioning of this service; there is not the knowledge base there to really understand it; and real health need is defined as the "ability to benefit", which in turn is a function of the prevalence and the effectiveness of interventions. These are complex issues which cascade down to PCTs who are under enormous pressure for a whole range of other interventions. I think the recommendation from the Joint Committee would be that this specialist commissioning should go back to a national level so that when agreed nationally there should be provision for the rolling out of these tests. Again, I will stress I am really talking about rare Mendelian disorders. Also where the UKGTN needs to be strengthened is that it needs to expand its gene dossier remit and it is beginning to do that by taking on board cytogenetics and looking at ways in which it could develop gene dossier-type recommendations to commissioners for the commissioning of new technologies like comparative array CGH, both dosage and genomics.

  Q209  Baroness Perry of Southwark: And you would want that ring-fenced funding to remain national?

  Dr Crolla: That would be the ideal because what is happening now when it cascades to the PCTs is it is very patchy so it is a postcode lottery. I think it needs to be ring-fenced and national.

  Professor O'Rahilly: Let me just give an example by Jenny Taylor who has drafted the document that the Academy will send you in response to these questions. She was involved in Oxford in the development of a service whereby people who died young and suddenly of sudden cardiac death, of which there are a number of genetic causes, would have their post mortem DNA analysed and family members would be screened and then those individuals who carried the risk factors were given implantable defibrillators, et cetera, to prevent sudden cardiac death. That was accepted pretty much everywhere in the UK apart from the Oxford region and it could not be implemented there because of financial pressures on the PCT, so there you had an example of the very place that was developing and leading internationally in the area of development was unable to find funding. There are numerous such anomalies within the Health Service but that is a good example of how patchy commissioning can lead to strange anomalies.

  Professor Furness: I think in terms of Health Service commissioning it is important to recognise that what we are talking about here at the moment is small numbers, which makes the model of the National Commissioning Group for Specialist Services an appropriate one. But if, as we anticipate, this sort of methodology and approach becomes relevant to more and more and more people, then it will rapidly move out of the realm in which that group has been accustomed to operating. It will not necessarily get that much simpler for primary care trusts to understand, even if a lot of people within one PCT might justify participating in a particular investigation. The issues will still be very complex and unfamiliar and the number of questions that are being asked will become very large, so there really is a conflict here with the policy of local decision-making in the Government, because it will inevitably drive postcode diagnostics.

  Q210  Earl of Northesk: At the risk of stating the obvious, genomic data makes huge demands on information technology and it is acknowledged that existing IT systems, not least with respect to band width, the speed of transfer and expertise, are likely to be insufficient for future needs. In your view, where is the investment needed and where should the balance be struck between investment in IT in reference labs, secondary care and primary care? Who is best placed to develop and establish the increased infrastructure and expertise?

  Professor Furness: Could I suggest an answer from the specialist labs and from general practice.

  Dr Crolla: I have had some inter-activity with Connecting for Health when we were first establishing array CGH in our reference laboratory. The problem was that through the NHS N3, the band width out to the Internet was 250 kb/sec speed width for the whole of the NHS, for all 1.2 million users. I am not sure it was anything to do with the pressure that we put on but they were in negotiation with BT to increase that band width to one megabit per second, which it currently is as I understand. It urgently needs upgrading to much faster, 10 or 20, or as the French are now installing in Paris 100 megabits per second as a standard broadband band width. That is one point. The second point is that in terms of data storage and data analysis there is a real training issue as well where clinical scientists are beginning to wake up to the real bioinformatic resources that are required in order to do interpretation, be it genome-wide association studies, sequence analysis or array analysis. I am not sure that I would be able to give the Committee a particular steer on where the resources need to be put but where we are finding, and I find other colleagues are finding it particularly frustrating is that we constantly are battling with our local trust IT departments who work under very strict clinical governance rules, appropriately, and also they have huge political drivers like Choose and Book and the implementation of PIMS and other initiatives, and so our requirements are relatively small-scale. I do not think that this technology infrastructure improvement should only be in the reference laboratories. I think it should be in all laboratories which are accessing genomic information. I think the final point I would like to make is that we have in the UK at the Sanger Centre one of the leading genome campuses in the world, and within the Sanger Centre there is the Ensembl Genome Browser with all the bioinformatic resources, and they have a suite of servers there which is the size literally of an aircraft hanger, and they have bioinformaticians who I think would be approachable and who should really be collaborating with NHS Connecting for Health. There are other initiatives that are on-going where genetics laboratories are currently developing new laboratory information management systems on a consortium basis, again highlighting the rather clunky nature of trust IT systems against what we need, which is fast, unrestricted access to the Internet and genome analysis.

  Q211  Lord Winston: I am surprised you mention the band width and do not mention security. Is not security rather more important?

  Dr Crolla: The conflict is security and so clearly we have to conform to all the acceptable use of IT policies, but there has got to be a way of having parallel access which does not impinge on or affect security. Clearly if you are going to be sending large data sets across the Internet it has to be anonymised before you can do that, but what I am talking about here is not transferring data but access to bioinformatic tools, and the current structure is really too clunky to do that in an effective way. I do not think it has any issues in terms of patient confidentiality. We would not want to in any way impinge or breach acceptable use policies under the NHS clinical governance.

  Q212  Chairman: Do you get the feeling that the current IT development in the NHS as it progresses is going to be adequate for genomics information?

  Professor Furness: I think if you asked that question omitting the words "for genomics information" you would probably still get a no; it will not be adequate.

  Professor O'Rahilly: I would be pleased if it could get me an Electronic Patient Record in the next 10 years! It will have to be bespoke developments, as Peter and John say, because the nature of the questions that you are asking with information is totally different. You need detailed bioinformatic information about the likely effect, for example, of a particular mutation on a protein. You need to be able to assess whether something is likely to be disease-causing or not. There is a whole range of information that is needed that is different from what we usually think of regarding a simple transfer of patient records or simple numbers with a normal range. This information is very dense and deep and I think there will need to be bespoke and focused investment, particularly on bioinformatics within the NHS, if we are going to take genetics to the next level. I think that has to be not just the regional labs but the specialist labs too.

  Dr Rafi: In terms of primary care, generally IT within primary care has been pretty good and probably in some places a lot better than secondary care. There are certain needs, though, that I think we are going to need for the future including how we record family histories and pedigrees. There are no such systems up and running at the moment within primary care, although there are people looking at computer-aided packages that can give family pedigree information and also risk assessments. That is one thing that I think would be useful. The way that we record data in primary care, particularly applicable to genetics, is going to be important and as we get new classifications of diseases, disease coding is going to be particularly important. I asked Simon de Lusignan who is Director of Bioinformatics at St George's about this. He is a GP with a real expertise in bioinformatics, and his feeling was that what we need is a informatician in primary care who can deal with psuedo-anonymised databases where you look at the coding that goes into these databases, which may change over to time. So trying to look at archived data from the past may be difficult in the future when your queries change, when your coding systems change. I think this is really important. The other aspect of care is obviously surveillance, and with people for example an increased risk of colorectal cancer or breast cancer based on their family history, who need to have regular surveillance over time, we need to have good methods in primary care to be able to ensure that these people get the relevant procedure that they need at the time, and so we need good registers in primary care to be able to deal with that situation.

  Q213  Earl of Northesk: Back to your observation, Dr Crolla, that the existing NHS IT systems are clunky. This may be a little provocative but it does provoke the thought to what extent therefore are existing NHS IT systems a potential barrier to active transfer of genomic data?

  Dr Crolla: I used the word clunky—it is a relative term—and obviously people who are accessing the data warehouse for PIMS applications would find the download speeds perfectly acceptable. Where colleagues are trying to download gigabytes of sequence information in order to blast sequences, that is a very different scenario, and that is where it is clunky, it is too slow. What often happens is that colleagues will go home and use their own broadband connectivity and do the work and then email it back to work, which is an unacceptable situation. There are ways around it, and Lord Winston highlighted the security issues, and you can have parallel broadband access within hospitals providing it is within the acceptable use provisions but which does not impinge on the security issues for patient confidentiality. Where I think the parallel should be drawn is between what is available within university IT systems compared to the NHS. I wear two hats, I have a university position and an NHS position, and because of our physical separation from the university I cannot have access to the library resources in the university via the NHS. The systems do not talk so I cannot instantly access data or on-line journals and things like that on my desktop when I need to see them, so there is a delay. Really if we are going to develop and utilise these resources we need to have those resources available at the desktop through the NHS IT system.

  Q214  Earl of Northesk: So another part of your wish-list is a much more federated IT architecture?

  Dr Crolla: Yes.

  Professor O'Rahilly: The problem is not unique to separate sites. Even on one site at Addenbrooke's in Cambridge our NHS colleagues cannot access journals, et cetera, through their IT system, so it is not just a physical separation, it happens in most institutions even when the university and the hospital are in the same place.

  Q215  Chairman: But have we not had a recent directive about information about individuals and how it can be taken out and there are strict rules now that have to be applied? If you are familiar with that is that not going to make difficult what you suggest where people are taking information away from the NHS environment so that they can work on it?

  Dr Crolla: That is a very good point, Lord Chairman, yes, indeed. Again, this would be accessing pseudo-anonymised data or genomic data which is not personalised, so that was the example I was giving. There are initiatives to encrypt all NHS computers which I think will make life impossible.

  Q216  Chairman: That is the direction given just now?

  Dr Crolla: Yes and our local trust is looking at ways of implementing this encryption, but most of what we are doing is in international collaboration and so we do need to have access and be able to share anonymised data across international boundaries. If it goes outside the NHS it is gobbledegook unless they have the encryption software. It is a big problem.

  Q217  Chairman: Including your Blackberry emails?

  Dr Crolla: Yes, especially your Blackberry emails!

  Q218  Baroness O'Neill of Bengarve: In the last section of the Royal College of Pathologists' report you suggest a new policy framework and in particular the establishment of a new UK-wide body, or the reorganisation of one of the existing bodies to provide a single comprehensive function of horizon scanning and for taking and evaluating new laboratory investigations. I have several questions about that proposal of which the sharpest is: which bodies would you abolish? There is a constant tendency to recommend multiplication of bodies and then to complain that there are overlaps and gaps and things that are difficult to deal with. If you were being really quite surgical about this, what would you abolish? Could, for example, the UK Genetic Testing Network be enough or what else would you do? This body has got to do a number of different things but just adding a body does not strike me as perhaps the whole or best remedy.

  Professor Furness: Those are my words so if I could at least start the answer to that one. This is a new task which could be taken as a justification for a new body. I have listed the various bodies that do something similar on a small selective scale. Obviously one would not abolish the whole of NICE but that is an organisation that could potentially be reformed and expanded to cover this function if it was able to alter its working practices radically in this field. At the moment I gather it has a charter which means that it could not do that. I do not know enough about the other bodies to say whether they could actually be abolished or not, but I suggest that their role in evaluating diagnostic investigations could be abolished. The trouble is they all have other roles as well, so one could readily extract those roles from those various bodies and thereby reduce them a little in size and either expand one of them to cover what is necessary or set up another body. I would not wish to prejudge which would necessarily be the best way of doing that as long as there is an organisation that can speak with a single authoritative voice on all these topics.

  Baroness O'Neill of Bengarve: Thank you very much.

  Chairman: Does anybody else have any comments about that? Lord Colwyn?

  Q219  Lord Colwyn: At our Genomic Seminar, which I know you came to and I am not sure if any of the others came as well, it was suggested in evidence from the Academy of Medical Sciences that in future pathology services might be reorganised with a molecular pathology lab acting as the hub of molecular tests in clinical genetics, cytology, haematology and pathology. What is your view on the benefits of organising pathology services in this way? What do you think the costs might be and the desired timescale?

  Professor Furness: That was an Academy point and could I answer it, please, because it has been discussed a good deal within the Royal College of Pathologists, and indeed it is a topic that arises from Lord Carter's work on the provision of pathology services. There are aspects of providing molecular biology systems that are very expensive and nowadays rely on very large expensive machines where you only have look at the economics and it is absolutely obvious that it is more efficiently done with a small number of those machines analysing samples from all over the country, if that is the sort of thing that you are talking about. However, on the other hand, the people who actually interact with patients who need to decide what investigations are needed for individual patients and to help interpret those tests for the benefit of individual patients have to be where the patients are. To that extent you are potentially talking about a hub and spoke arrangement to make it most efficient. How many hubs you have around the country is a difficult question and will probably depend on the tests that you are talking about. If it is an investigation that needs some massive high throughput machine and the country really only needs one, then you are talking about one hub for that investigation; for others you will more efficiently have lots of hubs with spokes. I think the idea of the different specialities of pathology collaborating to have one hub almost per hospital to cover microbiology, clinical chemistry, histopathology—the existing specialties—is one which is being discussed repeatedly and is of value in terms of generating local hubs to make things more efficient. The barrier to that is, first of all, the need for capital investment to do it and, secondly, the current structure of NHS funding. We have "silo" funding where this amount of money goes to this service to keep doing what it has been doing year in, year out, irrespective largely of new demands and new developments, and it is very difficult to get agreement to change that pattern. The expense of that sort of reorganisation would be there, I personally suspect it would not be enormous and I think the savings could be greater than the expense if it is done logically; but we have this hump, this barrier of organisational inertia to get over to make it happen. I am very keen to see that sort of development happening but it is the politics that get in the way at the moment, I think. John, you have had particular discussions within the UK Genetic Testing Network.

  Dr Crolla: We have not actually discussed this specific issue within the Joint Committee but when I saw the question I canvassed the opinion of the Joint Committee on this. My personal view was "if it ain't bust don't fix it" in the sense that regional genetics laboratories and collaborations with clinical geneticists have really served the population pretty well since the inception of the regional genetics system, but most of my colleagues responded by saying, "Hang on, there is a critical mass issue here," and that really as the technologies are evolving—high throughput sequencing, various new generation sequencing technologies, the arrays—as Peter was saying, the capital investment is so large and the capacity of that equipment is also very large, it really does make sense to centralise some of these testing scenarios. What we must not lose is this link between the interpretation and the clinical use of the data that is generated by these hub and spoke models, but I totally agree, as did most of the respondents from the Joint Committee, that we cannot be ostriches and stick our heads in the sand and say things will remain the same because the technology will drive change.

  Professor Furness: It has training implications as well of course. If you are splitting the doing of the tests from the interpreting of the tests, how you train the people and how you make the jobs attractive could be difficult, but I think those are issues we will have to address.

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