Genomic Medicine - Science and Technology Committee Contents

Examination of Witnesses (Questions 178 - 179)


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

  Q178  Chairman: Good morning to all of you and thank you for coming. Welcome to the panel that have come in their spare time to give evidence to us today and a particular welcome to Professor Stephen O'Rahilly who I know was called in at the last minute. My first question relates to translation of the genomic information and genomic science. We have had differing views given to us on this. On the one hand we have the view that DNA and RNA-based tests are already being used in clinical medicine and on other hand we are told it will take years before many of the genomic science knowledge will be translated into clinical medicine. Which bit is true, and how fast is the science moving so that we are able to plan its translation into clinical medicine? The memorandum from the Royal College of Pathologists states that there will be an exponential increase in genomic tests. What are the cost implications of all of this? Who is actually monitoring or making pronouncements about which tests are good and which tests are not so good?

  Professor Furness: I am Professor Peter Furness. I am Vice-President of the Royal College of Pathologists and President Elect. I am a histopathologist by training, but I have also been heavily involved in a College initiative looking at how we evaluate new diagnostic investigations. You have just asked a whole series of questions, all of which have really very complicated answers.

  Q179  Chairman: Simplify it for us!

  Professor Furness: You started with what was given to us as question one on the list of possible questions, which concludes, "Are these differences disease specific? Or are they a reflection of the different types of genetic tests?" The answer is both. The word exponential came from a discussion that we had with Professor Finbar Cotter, who is a hematologist, who has described in his laboratory an increase of three-fold in the number of genetic tests being undertaken in the space of two years. Elsewhere the increase has been less dramatic. I know my colleague Dr Crolla has some information about the increases annually of about 20 or so per cent in a different area. The problem is that this is so enormously broad. Leukemia is mentioned as an area where genetic tests of one sort are already very important because in some types of leukemia there are consistent, reliable and relatively straightforward changes that you can look for. Other types of cancer are much more variable. For example, we have recently seen developments in expression profiling which give improved prognostic information in breast cancer, a common cancer compared to leukaemia. I have already mentioned a relatively simple and long-standing set of genetic investigations for leukaemia and compared that to a technically completely different investigation looking at what the genes are doing and how they are being expressed. There was a good example in Nature a few years ago which took what we thought was a single disease entity, large Bcell lymphoma, which we thought had a very unpredictable response to treatment and demonstrated that by looking at the gene expression of these tumors you can split them into those that will respond and those that will not. That was in 2002 and it is still not in routine practice. I have only been talking about acquired mutations in tumours. I have not even been addressing the underlying changes which I think stimulated this Select Committee's inquiry, which are to do with population-wide screening of an individual's inherited genome, I have been talking about mutations in that genome. There is another question in your list that is talking about cervical cytology, which I think is actually related to assessing the genome of viruses rather than humans. You have in here such a vast spread of potential in a whole lot of different areas that the Select Committee is going to have to be careful to pick out the different elements and recognise that there are advantages to be gained in a whole lot of different areas as a result of different technologies. Saying "exponential" is probably mathematically inaccurate because it is going to be very jagged. In some diseases there is going to be a development that becomes very valuable very quickly and in others it is going to take longer and then suddenly there is a breakthrough, but that is the nature of the whole process. You asked a question about the expense. That is immensely difficult to discuss, but the costs vary depending on the different tests that are required. At the moment I am told that sequencing someone's entire genome can cost about £10,000, but extrapolation suggests that that will probably come down to £1,000 within a few years. We are already in a situation where I am told if you want to sequence 10 genes from one individual economically you may as well sequence the whole thing. There is a very rapid change. The costs will come down, but they will remain substantial if you have large numbers of patients compared to what we use at the moment.

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