Examination of Witnesses (Questions 220
WEDNESDAY 11 JUNE 2008
Professor Peter Furness, Dr John Crolla, Dr Imran
Rafi and Professor Stephen O'Rahilly
Q220 Lord Colwyn:
Are some of the simpler tests computerised now? Do you actually
need a pathologist to do the test? I am thinking of haematology
for instance where there are a series of specific tests with results
expected within specific parameters.
Professor Furness: You can get do-it-yourself
at-home testing kits but the quality thereof is debatable, and
I for one would rather have someone who actually understands what
is going on inside that test to at least oversee what is going
on and then come on to the interpretation. Even if doing the test
is frightfully easy, which I suppose may increasingly be the case
in some tests, the interpretation is often very complicated. At
one extreme is the good old pregnancy test where you are either
positive or negative (hopefully); but most of the tests we are
talking about have very complex interpretation problems.
Professor O'Rahilly: I just wanted to confirm
and support that. The pathological disciplines contain an analytical
component which is obviously critical and the quality of that
is critical. But also grossly underestimated, I think. When it
comes to certain economic evaluations of pathology, is the quality
of the interpretative service that is provided to primary care
and other colleagues in secondary care where the deep experience
within those departments and the knowledge of what to do with
the test is really a crucial part of the functions of those departments.
You are right, it is relatively trivial to do clinical biochemistry,
you just get the reagents from a company, stick them in a machine,
and the machine gives you a result, but it is the knowledge base
within that department of what they mean under certain circumstances,
what the interfering substances might be and how to interpret
an odd rogue result. All of that requires extensive training and
experience, et cetera, so you need to make sure that that is maintained.
The idea of a lab factory that could be somewhere off-site and
just generating results back is a slightly worrying one.
Is it not a fact that genomic medicine as it advances will get
more embedded into clinical practice and, if you believe that
is going to happen, is this not an opportunity to look at the
whole of pathological services and on the one hand to do what
you said in terms of diagnostics and genomics to have a more centralised
approach (and we can debate whether interpretation needs to be
local and it cannot be centralised) and at the same time look
at the way the current services are delivered in pathology and
biochemistry and microbiology and unify them and stop this decentralisation
and thereby every trust will then want every laboratory including
Professor Furness: From a professional viewpoint
that is going to be part of my job for the next three years. We
have already seen cytogenetics and molecular genetics coming together
in a discipline that is almost indistinguishable. At the moment
there is an enormous gulf between histopathologists (which is
how I was trained) who look at shapes down microscopes, and molecular
biologists who look at shapes of DNA. I think is the two are going
to merge and we will see that happening. The speed at which it
should happen is difficult to foresee. Making it happen on the
ground clearly has political and inter-professional problems that
we must seek to overcome. I think starting now and say, "Right,
let's re-organise everything," would be inappropriate. An
incremental approach would be needed to go in exactly the direction
that you suggest.
But if there was some central push to that happening, that would
Professor Furness: The development of central
facilities will force people from different disciplines to work
together more and I think will facilitate that trend.
If there was a central push from the government side or the Department
of Health side, would that not help?
Professor Furness: I do not think we currently
have a major problem that requires a government push in terms
of the professions re-organising themselves. I think that may
become more of a problem in the future. I would not really like
to see that happen at the moment. I think changed patterns of
working are currently being driven by the Carter process and Lord
Carter's reportat least I hope. I would be cautious about
recommending such a central initiative at present but maybe we
should keep talking about that.
What about when it comes to RNA and DNA-based diagnostic tests?
Professor Furness: Diagnostic tests based on
RNA and DNA is this vast spectrum which we have been talking about
and in cancer diagnostics, histopathologists and molecular biologists
will be working together.
But you also mentioned that some of these will require expensive
equipment. Is there a need to have a push from the Department
of Health for that to happen or is there not?
Professor Furness: The organisation and funding
of the laboratories and equipment is a problem where I think a
central push would be a good idea, yes. If the organisations to
that extent are remodelled logically on the basis of need I hope
that the professions will gladly follow and adapt. We have done
quite well so far I think.
Q226 Lord Winston:
You have partly answered my last question. My experience may be
a bit out of date but certainly with cytogenetics there have been
sometimes horrendous delays in getting results in from centralised
services. Is that just under-resourcing at the moment? My impression
is that it is pretty patchy across the country.
Dr Crolla: You are absolutely right, Lord Winston,
part of it is under-resourcing; part of it has been a reluctance
to change practice, so that quicker tests would have been available
had certain practices been changed earlier. I think you are alluding
really to prenatal diagnosis results primarily and for karyotypes
results from chorionic villus and amniotic fluid. Part of that
has now been superseded by molecular testing for aneuploidies
and sex chromosome abnormalities, but I think you are absolutely
right, you put your finger on one of the difficulties, which is
how to radically shake up what is actually quite a conservative
profession. I think there are going to be two drivers. Firstly,
the White Paper capital investment (and I think this is a slightly
later question but if I could use an example now) investment for
equipment, which is driving the introduction of novel technologies,
is really coming to an end and it was a one-off payment, and it
may be the opportunity to look at reconfiguring and re-financing
the next generation of very expensive technology for central testing.
That is just one idea. I do not know the answer to the way in
which you drive professions to do things in a quicker way except
for example in America you would go out of business if your test
result took 14 days and the lab in the next state's took eight
days. You would go out of business and those pressures do not
Q227 Lord Winston:
I am all for my Lord Chairman's suggestion that this should be
centralised but once you are centralised of course you are divorced
from the clinical need to some degree and that perhaps represents
Dr Crolla: Yes, had there been universal uptake
of molecular testing for the aneuploidies clearly that would have
been a testing scenario had commissioners driven that forward.
It has only happened in Yorkshire and London but had that gone
right across the commissioning spectrum then clearly it would
have been a complete nonsense to set up QFPCR and FISH right across
all the laboratories. That would have been a driver for centralising
those tests. The difficulty, as you absolutely point out, is that
you are then divorced from the obstetrician who is getting the
test. I think Peter has alluded to that and how important if we
do centralise technology because it is an economic driver and
we do need to maintain that interpretative link between the anelate
and the patient at the other end.
Q228 Lord Winston:
Dr Crolla has largely answered my last question but can I ask
a supplementary. It is this question of the Genetic White Paper
and the funding and then the Royal Colleges' funding which we
need to keep up-to-date. I wondered where you felt the investment
was really needed. I presume if we are going to be screening then
it is going to be with robotics and I imagine it is going to be
with more automation particularly with cytogenetics. Do you want
to comment on that and how far short are we of those sorts of
targets and are there plans for getting that sort of funding in
Dr Crolla: On the first part of your question
in terms of cytogenetics specifically and rolling out array technologies,
I think the White Paper investment did a pretty comprehensive
job of putting that in place. We are right at the beginning of
the roll-out phase of that technology, and so I think where the
investment needs to go is really in the restructuring of the workforce
and the retraining of the workforce because people will no longer
be looking down microscopes primarily. We must not get rid of
that skill, we must hold on to that skill, but they will not be
looking down microscopes, they will be sitting in front of PCs
doing bioinformatic interpretation and generating other tests
as a result of the results that they are getting. That is where
I think the investment very much needs to go at this particular
point in time. If you do some blue-skies thinking in looking at
high through-put, high volume, fast sequencing, I am not really
the right person to ask, but I could ask appropriate people to
submit written evidence to your Lordships if you felt that would
be particularly helpful. We do have experts in my laboratory whose
remit is looking at next generation sequencing and how it will
impact on the delivery of genetic services. I could provide that.
Lord Winston: I think that would be very
If you have any further information that will help to amplify
and answer the questions please feel free all of you to do so.
Professor Furness: It might be helpful to chip
in a specific example on this point of funding for large equipment.
It was anticipated that when the White Paper introduced new developments
and new equipment that commissioners would have arrangements to
replace that equipment in due course. My understanding is that
in some areas a lifetime of five years has been agreed in the
budgets over which such equipment will be written off, and that
is probably too long, but there are certainly other areas where
commissioners have made no provision whatsoever for writing off
and replacing the equipment, so we are getting differences of
funding in different parts of the country which I think is regrettable.
Thank you very much. We have appreciated it very much you coming
and giving us evidence. It has been a most interesting and informative
session. If you have any further submissions you would like to
send, please do so. Finally, whilst it came out in your evidence
session the areas where you might like to see the Committee focus
or even make recommendations, feel free if you want to tell us
about two or three recommendations that you would like to see.
It does not mean that we will make promises that it will be there
but at least we will listen. Do you have any comments to make
about that? What recommendations would you like to see?
Dr Crolla: Put on the spot!
Q231 Lord Winston:
The Chairman is asking you to do our work for him.
Dr Crolla: I think to address the funding gap
as I identified in NIHR; to perhaps look in some depth at the
provision of training for clinical scientists within the context
of what is actually happening under the Professor Hill initiative,
Modernising Scientific Careers. I think we are at a critical point
and if we do not get it right now we are going to be regretting
it for some time.
I hope you will do a better job than my profession in making sure
that it does get it right.
Dr Crolla: We will certainly try. Those would
be my two principal recommendations.
Professor Furness: As you probably guess, my
principal wish would be for an authoritative national system for
the evaluation of new developments and to also provide recommendations
on how they will be implemented.
Professor O'Rahilly, did you want to say something?
Professor O'Rahilly: I suppose taking a more
high level, almost philosophical emphasis, I think what genomic
medicine is revealing to us is that human disease is not as simple
as we would like to think and that an approach towards medicine
which involves ticking boxes and following algorithms in a rather
thoughtless way is likely to lead to poor patient care, and that
doctors need to be very sophisticated biologists who need to be
trained appropriately. Any push towards the more rapid training
of less-trained doctors is likely to have adverse consequences
in the future. I think that this is one area of medicine and one
area of current discovery which is really exposing the great need
for the biologically sophisticated doctor of the future.
Thank you. Dr Rafi?
Dr Rafi: Two points really. One is education
and training, picking up on the last theme. It is really important
to provide money for educational input into primary care. The
role of the National Genetics Education Centre has been excellent
but it would be nice to see spin-offs from there in each region
so that you have local genetics education centres that can help
train the workforce or educate the workforce in primary care.
The other is to have a local resource available within primary
care trusts, and there are various models for thisGPs with
a specialist interest, perhaps community geneticists or perhaps
genetic nurse counsellorsan identifiable resource that
is available both for practitioners but also for the primary care
trusts as well.
Chairman: Thank you very much indeed
all of you; we appreciate it greatly.