Examination of Witnesses (Questions 20
- 39)
WEDNESDAY 30 APRIL 2008
Dr Colin Miles, Professor Veronica van Heyningen
FRS, Professor Joyce Tait, Professor John Dupré and Dr
Declan Mulkeen
Q20 Chairman:
Can I say that I think we can safely resume again. I think I stopped
you in your tracks, Professor van Heyningen.
Professor van Heyningen: I think we were talking
about what MRC has done since the end of the Human Genome Mapping
Project. In addition to supporting several units of relevance
to the broader genomic studies, for example the MRC Human Genetics
Unit but also the Mammalian Genetics Unit at Harwell and Functional
Genetics Unit in Oxford and many other individual grants, and
there is an MRC Biostatistics Unit and Public Health Sciences
which also all feed into the design of experiments and the way
in which we use the information for public health sciences. As
I say, they have just established a centre for cognitive aging
and cognitive epidemiology under Ian Dreary in Edinburgh.
Q21 Chairman:
Do you all feel that the current investment in genomic science
is at the level that is required on the basis that science is
advancing?
Professor van Heyningen: No, I did not say that.
Lord Sutherland of Houndwood: It would
surprise us if you did.
Q22 Chairman:
You were trying to convince me, I thought, there?
Professor van Heyningen: No, I think there is
a lot more to do.
Q23 Chairman:
I was trying to get you off speaking for MRC and get you on to
speaking as a scientist.
Professor van Heyningen: As a scientist, I think
there is going to be a very great requirement for sequencing technologies
and for the use of arrays in order to analyse patient samples
now, individual patient samples, and I do not think we have got
the capacity for that in the UK at the moment.
Q24 Chairman:
Is it the capacity that we need to address?
Professor van Heyningen: Yes. It is quite expensive
at the moment, but the price will come down. But as the price
comes down, there will be more and more calls to use the technologies,
so ultimately I think it is going to be quite a lot of money.
Q25 Lord Colwyn:
Is the cooperation such that there is no duplication of work in
different centres?
Professor van Heyningen: I am not sure I am
fully conversant with that. There is a great deal of cooperation
and collaboration between different centres, especially in the
clinical genetics area and the use of patient samples. I think
the UK really has a very strong record in the collection cohorts
nationwide and that is partly because we have a very good general
health service system and we can identify patients on a broad
front, but the optimal patients and families are collected and
have been collected for a long time, and once collected if they
are collected well they can be used again and again and really
you get much more benefit from studying some of the same cases
again as more information comes up, so that you can go back to
families. There again, I think some of the legislative aspects
might need to be looked at because sometimes it is quite difficult
to go back to families. Even though I think the families themselves
very much want it, we are debarred from that by the kind of ethics
permission which we receive.
Q26 Lord Colwyn:
Having been involved with biotechnology and aware of the hundreds
of thousands of pounds, millions of pounds which are spent on
patents, can you remind me of the situation on patenting genomic
information? Is it patentable?
Professor van Heyningen: Well, yes. Malcolm
Dunlop told me that they have patented (I suppose through Cancer
Research UK because he gets quite a lot of funding from them)
all the genes which he has just been involved in identifying.
Actually, I talk about Malcolm Dunlop because I know him, but
it is a big, big collaboration, an international collaboration.
There is certainly a European arm, but he also interacts widely
with North American researchers and I guess they have patented
these genes which they have identified together.
Q27 Lord Colwyn:
That is something you have to accept?
Dr Mulkeen: Patenting in the context of a function
rather than patenting simply because I have discovered this?
Professor van Heyningen: Oh, yes, the function.
Dr Mulkeen: If you are at the stage where people
are patenting it at the moment of discovery without knowing what
it was going to be used for, that would be a huge obstruction
to progress.
Professor Dupré: I just want to comment
on that. There is a real problem with patenting genes. So much
of the tendency of the scientific development over the last few
decades has been moving away from the notion that there is a thing
there which has a linear sequence of consequences, so that when
you identify the function you finally know what that gene is.
Now we have realised that genes are just resources which are used
in sometimes thousands of different ways in the body. So there
really is a very serious problem of creating obstacles to research
by patenting, by intellectual property in bits at the bottom of
the process. So I think there are real issues about how intellectual
property should function that we really have not got very good
answers to as yet.
Chairman: We might come to that in greater
depth.
Q28 Baroness Finlay of Llandaff:
I wonder if I could ask about biobanks, because their aim is to
increase the knowledge of genetic and environmental issues and
how they interact in health and disease and the hope is that this
will underpin discovery of new ways to treat different conditions.
I just wondered for which classes of diseases you envisage there
will be new ways of prevention and treatment revealed and under
what kind of timescale, and linked to that it would be helpful
to know whether you feel there are any gaps in the legal and regulatory
framework governing biobanks at the moment, either to help or
hinder that process? Is there a need to unify common law and legislation
on consent, privacy and benefit sharing?
Dr Mulkeen: Can I maybe start with the question
of the scope of biobanks? MRC along with the Wellcome Trust and
health departments is sponsoring Biobank (with a capital B), which
is the first and largest of the world's initiatives in the area.
It has got a target of half a million and it has passed the 100,000
mark after a year of recruitment. There are dozens, in fact hundreds
of smaller scale collections which are very important and focused
on individual diseases. The pooling of those, because some of
them are historical collectors, is a very important issue. We
need to invest significantly more in helping researchers who have
those collections to pool, because the way you might curate and
annotate disease types of information and the way you might have
done the tests on your cohort or your biobank might be different
to those of the research group you want to collaborate with. It
is hard to point to an area of human medicine that will not benefit
from access to either DNA collections or pathological specimens,
or repositories of infectious disease strains.
Q29 Baroness Finlay of Llandaff:
I want to explore the regulatory frameworks when this coming together
happens and then whether people have to go right back to the beginning
again, and consent issues, and so on.
Dr Mulkeen: I will hand over to Joyce.
Professor Tait: I think there are several issues
in these areas, particularly in biobanks and, I think, the challenge
of getting the right balance between protecting the privacy of
the individual and enabling the public benefit that is there to
emerge, and certainly Graeme Laurie has contributed to the AHRC
Centre's submission, pointing out that in the committee the chairs
in Scotland is trying much more to get that balance right with
a view to maximising the public benefit that arises from a genetic
databank, whereas the committee which has a similar function in
England is tending more towards the protection of the privacy
of the individual. Both are equally valid aims and there is pressure
for both, and I think it is something which needs to be considered
rather than saying one is right and one is wrong. It would be
very interesting to look at that comparison and see where the
balance of benefit arises given the two different ways of approaching
it.
Q30 Chairman:
I would like to move on to the funding for translation and the
new systems put in place, for instance the Office for Strategic
Coordination of Health Research (commonly known as OSCHR). That
is established to try and translate health research into healthcare
and health economics. So the question therefore relates to whether
that has altered in any way the funding of the funding councils
now that there is another stream of funding. Also, originally
it was the Department of Health and the old DTI which were jointly
responsible but now the DTI does not exist. Has that produced
a gap in the policy formulation or in the managing of this, and
are there tensions when setting priorities for spending on genomics
and other health research areas between OSCHR, MRC and the National
Institute for Health Research?
Dr Mulkeen: It is a complicated question. I
will deal with the last part first. The level at which we discussed
priorities with OSCHR at the time of the last spending review
and the level at which we are discussing priorities with OSCHR
does not go down to the question of, for example, the balance
between MRC spend on clinical and population genetics versus mass
models, and so on. There are certainly tensions. As you have heard,
there are lots of things we ought ideally to be spending more
on in the UK and there are difficult prioritisation decisions,
but most of those are within MRC. Going back to what OSCHR has
changed, I would highlight two main things. One is on informatics
coordination, not so much the question of raw computing power
to support bioinformatics and association and modelling of genes
in system, but at the Connecting for Health end and radiating
out from Connecting for Health, where under UKCRC coordination
and latterly under OSCHR there is a committee which Ian Diamond,
the Chief Executive of ESRC, chairs looking at the scope for e-health
records research and looking at what are the foreseeable uses
of the Connecting for Health initiative in research, especially
in areas like patient outcomes, surveillance, extracts of information
for epidemiology, and then charging a second group led by Alex
Markham called the Connecting for Health Research Capability Programme
with developing those. That is well funded by the Department for
Health. You might want to check the exact figure with them, but
I think it is in the region of £50 million available for
developing those aspects of Connecting for Health. The area we
are now talking about looking at, together with the National Institute
for Health Research, which I think will become a major issue for
all of us in medical research over the next year or two, is the
more translational area of informatics, looking at how we provide
the support systems and expertise which will draw together proteomic,
genomic, all the other "omic" data with the data around
intensely phenotyped subgroups of patients the richer datasets
that you would not reasonably expect to go into Connecting for
Health and making sure that that network of information can connect
well with Connecting for Health when appropriate and can be exploited
well in clinical trials informatics. I would highlight that as
one of the areas where we probably will need to spend quite a
lot more over the next couple of years. The other area where OSCHR
has made a huge difference, of course, is in helping the Treasury
decide to put a lot more money into translational and experimental
medicine. That has helped us fund the second of the calls for
biomarkers that I mentioned. It has helped us fund the initiative
which has just completed on intensively phenotyped patient subgroups
and it is also helping fund the developmental pathway scheme which
will be launched tonight actually, which will provide more milestone-based
funding for medical researchers who want to move new ideas further
into clinical application or to add value to them to get them
exploited. That scheme should be particularly useful in helping
translation in the more complex areas or areas which are higher
risk because they are scientifically innovative and not necessarily
the most popular area for private sector investment at this stage
but which might be very important in the future. Those will be
the two main areas where, as I say, OSCHR has made a difference
in the first year. There is more to come.
Chairman: Thank you very much.
Q31 Baroness Perry of Southwark:
I am sure you recognise that to the ordinary public the most important
thing is whether all this genomic medicine will actually translate
into interventions which will help their own health. My question
really is, how will the Research Councils evaluate whether any
newly identified low penetrance susceptibility genes will be useful
in identifying these practical interventions?
Professor van Heyningen: I think this is a very
difficult area because we are so much at the beginning of this
adventure in a way. As I say, it is going to be some time in most
disease areas before we can use the collected data to give any
sort of risk assessment to individual patients because there are
so many genes involved in common diseases. I myself work on much
more simple Mendelian diseases and there we are using genomic
information to tell people what causes their disease at a much
higher rate, but those are much less frequent abnormality diseases.
So I think for common disease I am sure that the whole synthesis
of the interacting pathways will give a lot of information. I
do not know how we are going to gauge the efficacy of the advice
which can be given to patients. I think there will be new approaches
to disease management, therapy, but also prevention, and of course
interaction with the environment is a major aspect of all this.
So I actually think that a lot of the effort is going to have
to be at the social science level, because we can already tell
people that they are at increased risk if they smoke, but it has
taken about 50 years until we have abolished smoking in public
places, so the timescale is much longer than one expects.
Q32 Baroness Perry of Southwark:
Do you think there is a danger that people will find this new
development the answer to all their problems, that they will not
have to bother with lifestyle and environmental issues and that
scientists will sort it all out for them, so to speak? How are
you going to tackle that as Research Councils?
Professor van Heyningen: I think that is a real
danger, but it might not be a task for the Research Council. I
really think that early education and getting information—not
indoctrination but really trying to get people to understand from
an early stage how important lifestyle is, that would be very
useful.
Professor Tait: The ESRC does have some research
from the Cesagen centre which it set up indicating that if a person
is informed about their genetic predisposition to a disease and
about the lifestyle changes they can undertake, they are much
more likely to seek medical solutions to their problem rather
than lifestyle changes. So they are more likely to want a pill
to fix this problem than to say, "I will change my lifestyle."
Q33 Chairman:
So how do you change that perception?
Professor Tait: I think Veronica is right. I
think at the school level, if you can get to pupils. It is not
really the Research Councils' function to spend a lot of time
and effort on this, although we do quite a bit of it. I think
a concerted effort to get to the young people early -
Q34 Chairman:
But it is your function to try and change the policy?
Professor Tait: Yes, exactly.
Professor van Heyningen: Yes.
Q35 Chairman:
So what are you saying about what changes in the policy are required,
or regulatory policies required?
Professor Tait: I do not myself know enough
about education at the school level to say how that needs to change,
but I do think there are changes which could be made in terms
of how you make the science that people are learning relevant
to their everyday lives and teach them science in the context
of their own lives in a way in which they can then connect with
it and make changes and maybe also change their parents' lifestyles
as well to some extent.
Professor van Heyningen: I was going to add
that I think there is a perception around, which is obviously
not very well informed, that the drugs can cope with everything,
but most of us around here know that there are no drugs which
do not have some side-effects. Aspirin has been around for a long
time. It has lots of beneficial effects, but it still has dangerous
side-effects and you cannot just take even aspirin on a routine
basis. I think most of the population just do not understand this,
but I do not know how the MRC is empowered really to tackle these
aspects of popular perception.
Q36 Chairman:
No, the MRC might not be, but the question is whether you feel
it is important that somebody tackles it?
Professor van Heyningen: Yes, definitely.
Professor Tait: Yes.
Professor Dupré: You should not assume
that there really is a very good solution to this problem and
partly, I suppose, we have to be careful in assuming what people
actually want to get out of this. I think we have this situation
really with statins. I think it is pretty clear that people do
take statins as an excuse for not moderating their diet and it
may not be anything that a medical expert would recommend, but
it still may actually be something that people are making rational
decisions about in a certain sense.
Q37 Chairman:
But we did make it freely available, did we not?
Professor Dupré: Obviously, yes. That
is something that we could consider.
Dr Mulkeen: Could I just add on the point of
there being no easy solutions to the question of behaviour change,
in 10, 15 or 20 years' time, or whenever large scale use of genomic-based
tests becomes part of healthcare, the costs of gathering the genetic
information will be much lower than the costs of actually interpreting
it, which in turn will be lower than the cost of communicating
that to the patient in a useful way. What Research Councils can
do is help to build up not just the sociological side that understands
how people react to this information, but also perhaps some of
the methodologies that will allow healthcare systems to choose
where it is worthwhile doing this. You could imagine a failure
of translation which was not about not having information but
being swamped by information with a lot of unnecessary test being
done which were not actually at the end of the day improving people's
lives and prioritising in the smartest way is going to be quite
a challenge over the next 20 years.
Q38 Chairman:
What the Research Councils can do, should do or will do?
Dr Mulkeen: We will certainly be building up
the area of methodology and one of the other challenges which
OSCHR has given MRC is to develop a new methodology research programme
which will not just meet the needs of MRC science but will be
able to meet the needs of NICE, MHRA and industry, and we expect
that as we consult on what questions people are going to need
help with areas like this will be pretty high up the priority
list.
Q39 Baroness Perry of Southwark:
Is there not for the research community, and the medical research
community particularly, an ethical problem for you in that you
need to in a sense convince the public in order to continue to
get funding from Government, which responds to public pressure,
that there is a magic pill or a magic solution, or a magic genetic
finding which is going to solve all their problems, while at the
same time you are conscious yourselves that this is not going
to be the answer to everything? You have a kind of balance of
ethical difficulties for yourselves, do you not, here?
Professor van Heyningen: Yes.
Dr Mulkeen: We try very hard in our communications
policy to avoid what you see in some other countries where every
time a new gene is discovered researchers are under pressure to
rush out and sell this to the public and the media as the breakthrough
that will solve all the problems. I think, looking at comparisons
around the country, we do a pretty good job in the MRC and across
the Research Councils of moderating that expectation.
Baroness Perry of Southwark: The media
still tends to translate it into solutions only a year away!
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