---

The UK can lead in the development of the stratified uses of medicine. Cancer Research UK alone has been involved in the development of 30 cancer drugs that are used across the world. There is a need for a national strategy. The research community, the research councils, the National Institute for Health Research, industry and private funders can all drive that. Cancer Research UK has established networks that, within five years, will use genetic tests to guide cancer treatments for all patients in the United Kingdom. The potential for United Kingdom plc in this area is huge. The Department of Health and the Department for Business, Innovation and Skills need to support the development of an innovative platform for the stratified use of medicines, bringing Cancer Research UK, the Technology Strategy Board, the research councils, the NIHR and the ABPI together.

9 Jun 2010 : Column 703

Many other recent advances are reported, such as area-based tests for prediction of prognosis and a guide to best treatment for acute and chronic leukaemias, sequences of bacterial genomes for treatment of TB in drug-resistant cases, tracking the spread of MRSA from person to person in the population and many others.

Assessing clinical utility and validity before the use of tests in the NHS will be crucial. Our recommendation that NICE should do that should be accepted. The United Kingdom has fallen behind, when previously it led in clinical trials. Two days ago, I met representatives from Novartis, having previously met representatives from other big pharmas. The interpretation of the regulatory framework in the United Kingdom, which is different from the interpretation of the same regulation in the rest of Europe, and the bureaucracy that each individual trust has put in place for clinical trials make doing clinical trials in the United Kingdom difficult. We have now dropped from number two in the world to number 17, with most of the trials now going to China. I hope that the review by Sir Michael Rawlins will address that, but the Government also need to be aware of that and do more.

I turn to another of our key recommendations. I hope that I have convinced the noble Earl that all of the developments that I have described so far have implications for healthcare research and for UK plc and that good information collection is crucial. Our report strongly recommended that a new institute of biomedical informatics should be established, together with training to develop expertise in bioinformatics. Sir Mark Walport of the Wellcome Trust said in his oral evidence:

"I have visited the set-up in Dundee and it is very powerful in terms of informatics, providing better patient care and is doing very sound research".

I extend an invitation to the noble Earl for a private visit to see it for himself. Dundee is not that bad a place.

My recent visits to academic centres, hospitals and companies in the United States-the universities in San Francisco, Stanford, Berkeley and Harvard, as well as Houston medical city and Massachusetts General Hospital-have demonstrated how sequencing technologies for genomes and epigenomes are being used in clinical practice and how genetic and molecular tests are routine in the care of the patient. We may be well behind in that. If we do not invest as a country in infrastructure and support industry, we will pay higher costs, as we already do for the use of certain tests, such as BRCA1 and BRCA2 for the identification of the risk of breast cancer in individuals. The United Kingdom has the capacity to lead, both in life sciences and in synthetic biology. Life science developments with engineering science can lead to the development of technologies and molecular markers.

With these advances will come ways of delivering healthcare and identifying disease risk which will drive public health policies. They will change the ways in which disease is diagnosed, disease progression is monitored and treatment is chosen. They will deliver early measurement of the effectiveness of the treatment

9 Jun 2010 : Column 704

through use of molecular tests as the epigenome changes. Medical care will be personalised, which will have implications for the way in which commissioning takes place. PCTs are struggling now with commissioning and I wonder how they and GP commissioning will work for personalised medicine. Will we not run the risk of even more the postcode lottery in the care of patients? Apart from the instances that I referred to in diagnosis and treatment of single gene disorders and their screening, where there is great variation in care in the United Kingdom, there are many other examples, such as the variation in genetic tests for breast cancer. There is also great variation in the identification, screening and treatment of patients and relatives with the mutation leading to long QT syndrome, which causes sudden death, usually in young people, and is now a preventable disease, and there is variation in the screening of patients for the stratified use of medicine in cardiac disease and some cancers. These are only some examples, but we also have a high incidence of late diagnosis of cancer, leading to poor outcomes.

There are several other issues that, no doubt, the other noble Lords on the committee and others will cover. However, let me ask the noble Earl some questions. Will the coalition Government stand by some of the commitments made by the previous Government? Will the current Government go further and commit to produce a White Paper on genetics and clinical genetics? Let us give them some time; let us say 18 months. Will the Government commit to establishing an institute of biomedical informatics? Will they support the development of innovative platforms for the stratified use of medicine?

While not all the current promise of genomic and epigenomic science may come to fruition, there is already irrefutable evidence that developments in science will have implications in healthcare. There is also good evidence that the UK has the opportunity to benefit from investing in both technology development and science. Too often in the past, as happened with monoclonal antibodies-now a £2 billion per year business-CAT scanning, MRI, ultrasound and many drugs, we do the good science but are poor at converting it to commercialisation. We need to change that if our economy is to benefit. The subject is so important that I hope that the Science and Technology Committee will return to it in two or three years.

I shall conclude with some well deserved and most sincere thank yous. It was a privilege to be asked to chair the inquiry by the Science and Technology Committee. An added bonus was to have such talented members in the committee, who were all fun to work with and very supportive. The committee was supported by our clerk, Elisa Rubio, until near the end, when she had to leave on maternity leave. We also had full support from our science adviser, Rachel Newton, and the clerk to the Science and Technology Committee, Miss Christine Salmon Percival, who also performed the brilliant task of converting scientific gobbledegook into the understandable, readable report that we see. Last but not least, I thank our specialist adviser, Professor Tim Aitman, who handled us all with respect and kept us informed and educated. Only rarely did he show his frustration at our lack of understanding. He worked truly hard, despite his clinical and academic workload. To all of them I say a huge thank you,

9 Jun 2010 : Column 705

because without their effort the report would not have been possible and they certainly made my task easier.

I also wish to put on record my thanks and that of the committee to Dr Francis Collins, a great proponent of personalised medicine, who led the sequencing of the human genome that was reported in 2000. He is now the director of the National Institutes of Health in Bethesda, Maryland. He organised our visit to the United States and co-ordinated the presentations by experts from all over the US. He and his colleagues put huge efforts into making sure that our visit was informative, which it was. I thank him and his team. Finally, we had to have the debate today, for today is Professor Tim Aitman's birthday. I am sure that the whole House will want me to wish him happy birthday from us all.

7.30 pm

The Earl of Selborne: My Lords, the whole House will wish to congratulate the noble Lord, Lord Patel, on this important report and on the informative way in which he introduced this debate. I was not a member of the sub-committee, so I can say with some degree of impartiality that I believe that this report can be listed, with several others over the years from the Science and Technology Committee, as one that fulfils the key role of informing and stimulating public debate on issues that inevitably arise when there are rapid and far-reaching scientific advances leading to challenges and, of course, opportunities for the user community, government, regulators and the scientists themselves.

The noble Lord, Lord Patel, spelled out graphically the dramatic speed of progress in sequencing and the increase in the volume and complexity of DNA sequence data that are now being produced. These have given rise to a new, highly skilled industry that is growing rapidly around the world. We are leaders in it, which is an important attribute that we should never lose sight of. The health benefits to be gained over the years ahead could be great. It is important not to oversell them, but anyone would recognise at first glance the potential for disease diagnosis and management, although much of it is as yet unfulfilled. However, this will happen only if the development of informatics keeps pace with the accumulation of data. Already we are beginning to see that our ability to interpret the results is lagging behind the new generation of sequencing technologies, so it is essential that bioinformatics support and functional genetic investigations are available in close conjunction with the clinical services.

I shall confine my remarks to Chapter 5 of the report, which relates to the need to support bioinformatics. Interpreting this ever-increasing accumulation of data presents a major challenge for researchers and clinicians. The noble Lord, Lord Patel, quoted Sir Mark Walport's oral evidence. I shall quote a different part of his evidence, which is reproduced in paragraph 5.7. He said:

"I think one of the major things that this Committee could actually be helpful on is to point out the need for there to be proper and sustained funding for databases such as the European Bioinformatics Institute which will otherwise become unsustainable and would put Europe in a weak competitive position".

It was gratifying that the previous Government in their response accepted the case for more secure funding for the EBI through the Research Councils UK's large

9 Jun 2010 : Column 706

facilities road map and that the Biotechnology and Biological Sciences Research Council-the BBSRC-awarded the EBI £10 million to increase its data capacity. The BBSRC is now developing the business case for longer-term funding for the institute. This gives grounds for optimism that appropriate investment in informatics infrastructure at the European level might be secured with leadership from the United Kingdom. The BBSRC deserves credit for having led on this.

The noble Lord, Lord Patel, also referred to an innovative company, Oxford Nanopore Technologies, which gave evidence to the committee and has circulated a note drawing attention to developments since the report came out, specifically drawing attention to the demand for trained bioinformaticians. It seeks to recruit in that specialised sphere, but it says that there is a limited pool of skilled resource in the United Kingdom at a time when the demand for trained bioinformaticians is exploding. It states:

"Access to bioinformatic resource, particularly for smaller laboratories, will be a key enabler in achieving critical mass in genome research and translating the results of that research into clinical practice".

No one could possibly quarrel with that observation.

The noble Lord, Lord Patel, referred several times to recommendation 8.23, which states:

"We recommend the establishment of a new Institute of Biomedical Informatics to address the challenges of handling the linking of medical and genetic information in order to maximize the value of these two unique sources of information".

This recommendation appeared to have been kicked into the long grass in the previous Government's response. They undertook to consider the proposal carefully-I am always rather chary when I hear the response "We will consider it carefully", because I think that I know what it means-but no dedicated funding was made available. Instead, the response referred to the excellent work at the National Genetics Reference Laboratory in Manchester in delivering bioinformatics courses for molecular and clinical geneticists. However, we have to put this in perspective. The Wellcome Trust Sanger Institute, which also speaks with some authority, commented that while this laboratory in Manchester,

"is carrying out some work in this area, it has neither the funding, the mandate nor the focused mission to lead the United Kingdom in a coherent fashion in the use of linked medical and genetic information. A national institute of biomedical informatics with this specific mission would ensure that the UK translates its research leadership in these areas into improved healthcare delivery. Without it we are likely to fail at the point of translation into material benefits, as has happened so often before".

The noble Lord, Lord Patel, and his committee are right to put so much emphasis on ensuring that we have an appropriate national capacity to meet the biomedical informatics challenge. I hope that the Minister can assure the House that this recommendation will be followed up.

Whenever any new facility is proposed in these days of funding cuts, I accept that there is a responsibility on those who support the proposition to explain how it is to be funded. In the United Kingdom, we spend about £2.5 billion on pathology services, which are scattered around every hospital in every corner of the National Health Service. These pathology and laboratory

9 Jun 2010 : Column 707

services in NHS hospitals tend to be fragmented. In his evidence, Sir John Bell said:

"There is an urgent need therefore to rationalise the management of these, either at an NHS Trust level or through large regional laboratories".

The virtues of that are economies of scale, bringing together state-of-the-art equipment and the integration of laboratory services, which would save money and provide a coherent, integrated delivery. The medical profession, which always tends, like any other profession, to protect its own patch, must recognise that the sovereignty of individual specialities cannot inevitably be protected. By bringing together molecular pathology and genetics laboratories, one has opportunities for the more efficient use of existing resources. I commend that to the Minister. I very much hope that the Government will now make a national institute of biomedical research a reality.

7.40 pm

Baroness Royall of Blaisdon: My Lords, I speak today not as a real participant in this debate but to ask the House's permission for our Front-Bench contribution to be given at the end of the debate by my noble friend Lord Winston. Having listened to the first two contributions, I am already in awe at the knowledge, wisdom and expertise that I know will be demonstrated throughout today's debate, which is hugely important and very exciting. I could not make a worthy contribution because my own knowledge of genomic medicine could probably be written on something considerably smaller than a DNA sequence.

In moving into opposition, we are still some way from finalising our Front-Bench spokespeople in this House. In the interim, I ask the indulgence of the House and of my colleagues and ask a number of them to step up to the plate. Indeed, I trust that they will continue to be Front-Bench guest spokespeople from time to time. I happened to strike lucky when I asked my noble friend Lord Winston to speak on behalf of the Opposition today. I regret that I cannot stay longer and learn more, but I will read today's Hansard tomorrow with huge interest. I know that I will learn an enormous amount.

7.41 pm

Lord Taverne: My Lords, the committee's inquiry into genomic medicine was a very wide-ranging inquiry into a very important and highly technical subject. It is a subject in which I am a layman and, even after hearing a large and impressive array of expert witnesses, I cannot claim any but the most superficial knowledge of the issues involved. Fortunately, we had a very learned and able chairman, who handled our inquiry with great skill, expertise and charm. We had an excellent expert adviser and splendid supporting staff, and many of the committee members had valuable experience and knowledge of their own. All I can do in my speech is to contribute some rather general observations.

A basic question that we face is: how likely is genomic medicine to produce substantial benefits in the short to medium term, say in the next five years, in

9 Jun 2010 : Column 708

the treatment of disease? Experts differ on this. If benefits are many years away, the case for the urgent implementation of our recommendations is obviously weakened. An independent response from the Foundation for Genomics and Population Health and Cambridge University's Centre for Science and Policy, for example-two pretty heavy-weight bodies-was rather dismissive of the short and medium-term prospects for benefits to the nation's health. It is agreed that staggering progress is being made in the sequencing of human genomes. There is also no doubt that there has already been a major impact on single gene disorders, such as Huntington's disease, and single gene subsets of some common diseases, but these are rare diseases and affect only a tiny proportion of the population. However, it is argued, when it comes to genetic tests for common diseases, that the gain to clinical utility in the short or medium term will be small, and a great deal more research as well as trials will be needed before we can be confident of the benefits that genomic medicine can bring to a wider section of the population.

The critics of our report are similarly cautious about the prospects for substantial early developments of pharmaceutical drugs that are tailored to individual needs or about how much knowledge can soon be gained of adverse side effects of particular drugs in individual cases. At first, I was somewhat sceptical about the claims of early prospective benefits-big benefits for tiny cohorts, tiny benefits for the big cohorts-but I believe that the balance of the evidence that the committee heard clearly leads to a more optimistic conclusion.

There is an impressive list of examples in paragraphs 2.16 to 2.30 on pages 17 to 20 of our report, and further developments have since added to them. Genetic variants, for example, with only a very small effect on risks, may enable us to identify new pathways for diseases, opening up the prospect of substantial benefits in treatment. Single nucleotide polymorphisms, which are associated with breast cancer, could identify women with a much bigger risk of breast cancer. Microarray measurements of gene expression in tumour tissue could separate women who have breast cancer into low-risk and high-risk groups, which would allow some to avoid chemotherapy and lead others to be treated more aggressively than they might have been. The Breast Cancer Campaign recently sent us a letter, which I am sure other members of the committee have had, showing that it is confident of real progress in identifying patients' risks and the treatment of breast cancer.

A large number of people with a particular mutation who had diabetes in the first few months of life could be taken off insulin even after 30 years, and we heard that there are reasonable prospects of identifying new genes that will lead to the stratification of patient groups. A witness from the Pfizer group told us that the effect of pharmacogenomics and targeted medicines is being felt in every aspect of research and development in the pharma industry. Better drug treatment for individual patients will follow. Indeed, the Human Genetics Commission thought that new developments were most likely to come into clinical practice in the short term from pharmacogenomics. I believe that our committee's optimism was amply justified by the evidence.

9 Jun 2010 : Column 709

Moreover, progress in the field is changing so fast that for once a more optimistic view is more likely to be justified.

What will happen now? The most important item in the Government's response is probably the establishment of a human genomics strategy group. This seems a reasonable reaction if it is properly funded and staffed, but what chance is there in the present financial climate of proper funding for this body and for our other recommendations that need government money, albeit fairly modest sums?

I realise that everyone argues that their pet cause must be exempt from pending cuts. Cuts are for other people. I remember this well from my time in the long distant past as a Treasury Minister at a time of severe cuts in government spending way back in 1968 after the 1967 devaluation. However, I hope that the new Science Minister, David Willetts, will be able to demonstrate to his colleagues, as I believe is the truth, that our long-term prosperity depends more on our science base than on almost any other factor. The Government should think big and bold. Let us suppose that we were after all to phase out Trident in the Strategic Defence Review. Trident was designed to protect us from Soviet missiles in a different era, and its present justification is at the very least somewhat vague and lacks intellectual rigour. Let us also suppose that half the billions saved were diverted to increase the science budget. We could be firmly established as the leading nation for science in Europe. We could realise a vast potential for innovation in the industries of the future: a potential that is there to be realised if we effectively exploit the exceptional quality of our science, especially in the fields of biology, biotechnology and modern medicine.

The committee was told, I believe correctly, that genomics was one of the highly important areas of future development and that we were among the leading nations in the field-certainly in the academic field. It would be a tragedy if the Treasury's axe were applied proportionately to science generally, and to developments such as genomics in particular, as to all other parts of government spending, and if the relatively small extra expenditure for which our report argues became part of the sacrifices that all government departments will have to accept. Frankly, I sometimes doubt whether most Cabinets-this Cabinet may be an exception-really understand the absolute importance of science. David Willetts was a good choice as Science Minister, and he is probably our best hope.

7.49 pm

Lord Sutherland of Houndwood: My Lords, I, too, congratulate my noble friend Lord Patel and his colleagues on producing an excellent report. I also congratulate my noble friend on a judicious, clear and dazzling introduction, not least to those of us who are not specialists in the field. As chairman of the Science and Technology Select Committee I had the privilege of ex officio and visiting membership of the sub-committee. It gave me, along with the reports I received, ample evidence of a fine and important report in gestation, which has now come to birth and is before us.

I thank those who submitted evidence to the committee-those 140 individuals and 110 groups who took the time and effort. I simply ask your Lordships

9 Jun 2010 : Column 710

to look at all 640 pages of volume 2. It is a heavy and weighty tome in every sense. This is the distillation of scientific expertise, information and knowledge of which many a government around this world would be deeply envious. Please pay detailed attention to it. It tells a very important story. I wholly endorse the points made by my noble friend about the importance of bioinformatics and institutional development in this area. It is essential that we seize the opportunities which our scientists and technologists have given us.

This series of submissions leads me to be briefly political-with a small "p". My first political point to the Government is that this is evidence of a strong, informed and powerful national interest in these topics. It will continue to subject government policy and practice to scrutiny, along, I hope, with the help of future emanations from the Science and Technology Select Committee. This issue will continue to be scrutinised in some detail.

---