Genomic Medicine - Science and Technology Committee Contents

Examination of Witnesses (Questions 520 - 528)


Professor Rory Collins, Professor Andrew Morris, Professor David Porteous and Professor Julian Sampson

  Q520  Lord Colwyn: If the information is left in or stolen from a train or a car, it is of no significance.

  Professor Collins: Yes, because, for example, in our assessment centres, the participants enter data directly onto computer using touch screens and those data are encrypted, so if someone comes and steals the computer it is encrypted data and it cannot be broken into.

  Q521  Baroness Perry of Southwark: I think, possibly, your previous answer has answered this question, but we are told that there is recent evidence suggesting that an individual can be identified from their genomic profile even if it is present only in summary format amongst hundreds of others. What are the real risks in publishing this data in medical research or when linking different databases? Perhaps, at the same time, you could answer this question: We understand that while DNA theft is a crime, taking a DNA sequence maliciously to identify someone is not a crime. Should it be? Have you had any consideration about that, because the pressure to criminalise it would come, I suppose, from people like yourself?

  Professor Collins: In terms of the use of the genetic data which researchers would need to be able to see, they will only be able to do it under contract, where they will be in agreement not to identify individuals. If they tried to identify an individual, they would be in breach of that contract. Recently there has been a publication saying that summary genetic data can be used to identify whether an individual is in that summary data file. The consequence of that has been that, whereas, previously, journals, such as the New England Journal of Medicine, have required you to put the summary data on the data repositories, they are stopping doing that because someone could, in principle, identify individuals. We in UK Biobank are not going to be putting such data out into the public domain: it will be available only to researchers under strict control. I do not see it as an issue, therefore, from that point of view.

  Professor Porteous: The point that has been made is that you can identify that an individual is in a group rather than identify the individual. It is "which sample corresponds to a particular individual"—which is, I think, rather different. One of the things I am often struck about is the way in which genetic studies highlight issues which are out there in other guises. We assimilate quite readily, whether it is Facebook or Myspace or other ways of identifying individuals and collecting an awful lot of highly personal information from them. I do not want to use that in any way to minimise the potential concern, but I think we should try to make sure that we are clear about what exactly it is we would be revealing and how it would be used. In terms of a governance issue, exactly the same rule applies for Generation Scotland as do to UK Biobank: you would be in breach of contract if you were to use such information in that way, because, again, the terms of access and the use that is made of the samples to do research would preclude the identification of individuals. I think it is a theoretical issue, but it is one which is addressed in many, many other ways that does not include genetic profiling. It certainly is true in terms of DNA fingerprinting that one is able to identify individuals through genetic analysis, but that is done using a rather different type of genetic information and it is done with a very express intent of identifying an individual and distinguishing one individual from another. Around that, we have a very clear set of frameworks that determine when you may and when you may not use forensic fingerprinting technologies.

  Q522  Baroness Perry of Southwark: What about the issue of making it a criminal offence maliciously to do it?

  Professor Porteous: That would be captured under the existing legislation, I believe, in the sense of DNA fingerprinting technology. But you are making a distinction between the theft of the data as opposed to the theft of the sample?

  Q523  Baroness Perry of Southwark: That is right.

  Professor Porteous: That would be interesting. I am sure that would generate a wonderful legal debate. One could, I am sure, argue that you had technically stolen the sample in order to generate the data, but I am not a lawyer, so I am going to be quiet now.

  Q524  Chairman: Earlier on, Professor Morris, you mentioned that a public education campaign was required, so that the public could begin to understand the implications of the vast amount of information that could become available in two, three, four or five years. Do you think that is so? How do you think this should be handled? Equally, is there a necessity for the education of professionals in genetics, in association with genetic information and health information or risks related to that?

  Professor Morris: We touched earlier on the issue around information scientists. The one key message I have learned from biobanking is its interdisciplinarity. If we are going to get this right, we need to bring disciplines together. I am pleased that we have attempted to do this with Generation Scotland from day one. We have brought together information scientists, statistical geneticists, laboratory scientists, and doctors, but one of the key groups has been the social scientists. From day one they have led a research programme which has actually informed the development of Generation Scotland and its operation. They have run focus groups with families, exit questionnaires, a MORI poll, and it has shaped the protocol and our approach to communication with the public. And they have looked at thorny issues, in terms of pharmaceutical access to data. They have looked at the issues about the right to withdraw our policy, and access to the police and commented on benefit sharing. That research programme has been critical and given us the confidence to move at a pace, so that we do not move forward in a vacuum. I think that is the message. Another part of Generation Scotland has been to work with our clinical genetic colleagues around professional education. Not only in the specialist clinical genetics community but also in the greater community of primary care. This science will, we predict, be impacting upon their clinical decision-making within the five- to 10-year time frame and we need to prepare that ground so that they are ready for it. As part of the ScotGEN network we have developed educational tools and website educational programmes to try to educate the clinical community about the impact that this genomic revolution will have. I think it would be folly to wait until the yield of these biobanks is realised before we tackle these issues.

  Q525  Chairman: What about England and Wales?

  Professor Collins: To echo a previous point, a lot of the things that are discussed about genes are not new. Particularly in terms of risk factors for disease, we need to think of them genes as one part of it; it is also the gene product, the environment and the lifestyle. In a way, there is a little bit of hysteria around genetics, as if they program you for disaster. I think we need to get across the message that they are one part of a number of things that can determine your outcome. The advantage of many of those other things is that you can change them. That is one key message that one needs to get across. I believe that participation, particularly on a population-wide basis, in such studies is a great way for people to understand better what they can produce, in being part of something that will improve health. I can give you an example of this. The Wellcome Trust funded ALSPAC study is a study of children and mothers in Bristol. We are now recruiting into UK Biobank in Bristol and our recruitment rate there is twice as high as in any other part of the country in which we are recruiting. I cannot tell you that it is definitely because of ALSPAC, but many people who come in do talk about the ALSPAC study. It is part of their commitment to help research. I think such population studies, like Generation Scotland and UK Biobank, being part of how the population helps to improve their health, is one very good way of getting the population to understand the benefits of medical research; and for their doctors, also, the general practitioners particularly, to understand the benefits of participating in and helping such research. I think the studies themselves are educational in that respect.

  Professor Sampson: I would concur with what my colleagues have had to say about the opportunity that these large scale studies have for engaging the public in a wider way in relation to the benefits of medical research. Education is not an explicit role of these biobank projects, but it is an explicit role of a number of organisations. Earlier I mentioned the Gene Knowledge Parks, which were initiated in response to Our Inheritance, Our Future the 2003 White Paper from the Government. The Gene Knowledge Parks have done a lot to bridge the understanding gaps that exist between scientists and healthcare professionals and the general public in relation to genetics, and to try to address the perception of genetic exceptionalism that has been, perhaps, prevalent among some health care professional and the public. I think a number of these initiatives have shown that, once engaged, the public are very receptive to and very tolerant of the exploration of genetic issues and genetic research. In Wales we have undertaken a number of public engagement programmes that have involved thousands of young people, in particular, but also older members of the wider public. For example, a citizen's jury on designer babies showed that young people are very liberal in their approaches and their attitudes to the application of genetics in clinical and healthcare settings. We are also undertaking studies in relation to the national DNA database, one of which is engaging with individuals who are on the national DNA database to explore their perceptions of the ways in which genetic data is used in the legal setting. The message is that attitudes to genetics and genomics in medicine, particularly amongst the young, are optimistic and quite liberal.

  Q526  Chairman: Could you give a brief the answer to a question which relates to some of the information in evidence that we were given, that a bigger European wide Biobank would be of great value. Would you comment about that?

  Professor Porteous: Certainly there is scope for funding this type of work under the EU Framework 7, and it is under discussion for the next round for biomedical research support. There are, indeed, a number of studies which are already funded through that programme but they tend to be of a more modest nature and tend to be more disease specific, disease focused. But I think there is a considerable amount of interest from mainland Europe to what is going on in the UK and a strong desire, if not to directly collaborate, then to try to find ways in which one can capitalise on the work that is already going on in the UK and see it replicated around Europe. There are, for instance, studies such as Genome EU Twin, which has a twin-based study that captures information through twin studies all over Europe. That is also paralleling the kind of work that we do in the biobanks. There are other technology programmes, such as MolPAGE, which is developing the next generation of techniques to make measurements of biomarkers and they will feed in. Whether it would be a good investment to have the UK Biobank equivalent in each of the EU Member States, I think would probably take a considerable discussion and debate, but it would be up to each of the Member States to decide whether or not they thought it was a good investment and value for money.

  Professor Collins: I think there is merit in having such studies in a wide range of circumstances. I mentioned a similar study in China, where we can look at leaner individuals; we can look at people with lower cholesterols. There are studies going on in populations which are perhaps not where we are coming from but where we are going to, such as studies in Mexico where there is much more obesity and much more diabetes, so we can look at the other end of the extreme. Having studies in different circumstances allows us to look at a wider range of exposures. In terms of investment in Europe, personally I think that phenotyping is the key to these studies and more detailed information about the participants in terms of their risk factors beyond genetics will increase their value. Although I am very keen on bigger studies, I think there is merit, also, in taking the big studies that we have established and, increasing their value by increasing the detail of phenotyping.

  Q527  Chairman: Finally, if I were, without any promises, to ask you which two key recommendations you would like to see, what would they be?

  Professor Collins: If I could have one, it would be to remove the bureaucratic obstacles to using health records to improve the health of people in the UK. We are uniquely placed here to do these kinds of studies, to do large-scale clinical studies. The regulatory obstacles to the use of medical records, and the regulatory burden for clinical trials as a consequence of the EU Directive on clinical trials and its implementation into UK law, have pushed research and research funding out of the UK. I think the big problem concerns this regulatory burden and the bureaucratic obstacles. The consequence of these, and also of NHS research governance is that our ability to do this kind of research has been made increasingly difficult and costly, and research is being slowed substantially.

  Professor Sampson: There is one stage back from that even, which is perhaps the balance between individual rights and responsibilities as part of society. A lot of what we are talking about is being driven by the changes in that balance towards trying to protect individuals at the cost of harming the greater good.

  Professor Morris: I would suggest that the UK could be at the forefront of translational medicine internationally, not only going from bench to bedside but what we have talked about today, which is from cell to community. To do that, I would like to endorse Rory's point. I think that it is absolutely key: to have clarity about use of data, the governance of data, and an efficient process that allows us to do this, under scrutiny, which is in the public good.

  Q528  Chairman: Are you suggesting that we need to re-look at the whole area of the current legislation relating to information about individuals and the governance relating to fulfilling their registration? Are you asking for a re-visit of the whole area?

  Professor Morris: I am led to believe that it is more the inconsistent interpretation of the current legislation. Speaking to the Information Commissioner, there is latitude within the Data Protection Act which would allow us to come up with a policy which would allow this efficiency. Rory has my recommendation but my other recommendation is that I think we have a duty to communicate what we are doing better to the public—so allied to a public consultation, informing them of the benefits and the reasons behind our activities.

  Professor Porteous: Could I add to that an endorsement of everything that has been said. Also, if I had an ideal vision, it would be that this would be seen as part and parcel of a welfare health state. This should be seen as part of the NHS function. Indeed, anecdotally, the feedback that we consistently get from participants could be paraphrased along the lines of, "But I assumed that is what would happen to my medical records: that they would be fully and properly used," rather than that there was this very complex process of getting that information. There is an expectation amongst the general population that what we are doing through biobanking is part and parcel of normal practice. I think that is what we should be aiming for. It should be something that is seen as part and parcel of UK PLC and UK NHS—whether it is Scotland, Wales, England, or Ireland. That is my hope for the future. Anything that achieves that is good in my book.

  Chairman: On that note, could I thank you all for taking the trouble to come and help us with our inquiry. If there are any issues which come up that you think might help, please feel free to write in. Whatever you say will be used as evidence and therefore will be recorded as part of our evidence. Thank you.

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