Examination of Witnesses (Questions 520
WEDNESDAY 15 OCTOBER 2008
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.
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
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.
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.
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
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.
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 publicso 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 NHSwhether
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.