Genomic Medicine - Science and Technology Committee Contents

Examination of Witnesses (Questions 475 - 479)


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

  Q475  Chairman: Good morning, gentlemen and good morning to the members of the public and for those members of the public there is information about the interests of the Members of the inquiry in the papers on the desk there. Can I welcome our witnesses today; we are very grateful to you all for taking the time and trouble to come and help us with our inquiry. The procedure will be that if any of you want to make an initial brief comment or statement, please do. Have you agreed that one of you will handle the question, divided up, or are you going to be individuals? I had assumed you would all be individuals.

  Professor Porteous: Yes.

  Q476  Chairman: Take the questions as they come and anybody can chip in. You will be aware of some questions and there might be supplementary questions as the Members feel them appropriate to ask. Do any of you want to make any initial statements or comments? No. We will then go straight into the questions and let me start. First of all, what was the trigger that created the UK Biobank and Generation Scotland and what do you think is going to be the value in the medium-term and long-term of these biobanks in terms of public knowledge and healthcare?

  Professor Collins: I can speak for UK Biobank.

  Q477  Chairman: When you speak for the first time would you say your name for the record?

  Professor Collins: My name is Rory Collins; I am the Principal Investigator and Chief Executive of UK Biobank, so I can speak for UK Biobank. UK Biobank is, I think, quite different from Generation Scotland; it is more of what I would call a classical population study where we are looking at all of the different kinds of risk factors for disease—the way people live, the environments in which they live as well as their genetics, and seeing how those different factors can interplay to determine whether or not one person does get a disease. It is much like, for example, Sir Richard Doll's study of smoking in 50,000 British doctors, which showed over a 50-year period the full effects on health of smoking—not just on lung cancer but many other types of cancers, heart disease, lung disease, etcetera. So we are not just interested in genetics, we are looking at the whole range of exposures. There was this realisation over the last 10 or 15 years that many of the risk factors that we were looking at need much larger studies to understand their full effects and, in particular, how they interacted with each other. So Richard Doll was very lucky; he was looking at smoking, which produces very big effects. But for genetic factors and for many other factors, their effects are quite modest; particularly when you look at how they interact with each other you need very much larger studies than were customary in the past. We have demonstrated that by combining smaller studies, for example smaller studies of the association of blood pressure and disease, it was possible to show that blood pressure was much more important as a cause of heart attack and stroke—not just in middle age but in old age—and indeed the effects of blood pressure continue down throughout the normal range. That has had a very big impact on, for example, the Food Standard Agency's policy on reducing salt in processed food in order to lower population blood pressure because we now know from putting together these studies that lowering blood pressure in what we call the normal range will lower the risk of heart attack and stroke. So there has been an increasing realisation that we need much larger studies to understand the full effects of these different factors that led to studies like UK Biobank.

  Q478  Chairman: So is the size of the cohort adequate?

  Professor Collins: No. The bigger the study the more valuable it will be in terms of determining the ill effects of different risk factors. The combination of different studies of blood pressure that I have mentioned, involved a million individuals and even there, when you started to look within different circumstances at different ages or when you looked at the combination of different risk factors, you start to run out of information. Because it is not the number of people in the study that actually gives you its power to study the risk factors, it is the number of people who (unfortunately) develop any particular condition, and even for the commoner conditions half a million people will be barely adequate. For the rarer conditions we will have to wait a long time until enough people have developed the condition of interest, whether it be joint disease, dementia, whatever, to be able to study it really reliably. But it is a very good start and there are a number of such studies going on around the world, so that by combining the data from those studies we will be able to unpick the risk factors to a greater extent than we can in any one study.

  Q479  Chairman: So are these studies in other countries with which you might amalgamate the information all collecting a similar type of information?

  Professor Collins: Similar but not identical. There is a programme going on called P3G, which is trying to harmonise different studies of the association of risk factors in genetics with disease.

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