Genomic Medicine: S&T Committee Report
(14 years, 4 months ago)
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Lord Patel
To move that this House takes note of the Science and Technology Committee Report on Genomic Medicine.
Lord Patel
My Lords, the sequencing of the human genome in 2000, and the technological advances that made that possible, brought with them the possibility that these advances could benefit healthcare. The Government of the day recognised this by the publication of the White Paper, Our Inheritance, Our Future, in 2003. The investment that followed resulted in the provision of services mainly for the treatment of single gene disorders.
Several further advances have resulted in the development of molecular and genetic tests, both for identifying risk of disease and treatment. As genome sequencing technologies improve and more genetic tests become available, new models of service delivery will have to be considered. We are familiar with the association of diseases such as cystic fibrosis, Huntingdon’s disease, sickle cell and others with defects in single genes. The sequencing of the human genome in 2000 affords scientists the opportunity to explore the association of gene mutations in more common diseases such as diabetes, heart disease, cancers, Parkinson’s disease, mental health and many others. The development of genetic tests has made it possible to target treatment to patients most likely to benefit, identifying patients sensitive to certain drugs such as Warfarin—an anticoagulant—and retroviral drugs for the treatment of HIV and many others.
In the world of competing priorities and cost savings, how are the advances in genetics and clinical genetics going to be translated into clinical practice? We should be certain of one thing: that scientific advances will lead to the identification of newer drugs, allowing for the treatment of more diseases and the identification of patients most likely to benefit from treatment. Without the planned introduction of validated tests, the effective treatments available across the whole of the NHS will not occur. A postcode lottery in the provision of care will develop, as it already has in relation to the use of currently available genetic tests for single gene diseases.
The purpose of our inquiry was to explore the current state of genomic science and its implications on healthcare. We also briefly explored the ethical and legal implications of genetic information. The report is presented in seven chapters, each focusing on different issues. It is based on the written evidence given in response to our call for evidence, and oral evidence from some 140 individuals representing nearly 110 organisations. We make 54 recommendations. All the evidence is presented in part 2 of the report, running to nearly 360 pages. We also carried out a visit to the National Institutes of Health in Bethesda, Maryland, to get evidence from the USA. It was presented to us in 34 sessions over three days.
The previous Government responded to our report, accepting some of the recommendations. However, in general the response was poor and failed to recognise the reasons for some of our recommendations. The coalition Government now have an opportunity to scrutinise the report and, I hope, produce a more studied response over the coming months. I hope, though, that by the end of today’s debate the Minister will commit the Government to taking forward some of the key recommendations, particularly those related to the White Paper on genetics and the new Institute of Bioinformatics.
Let me briefly allude to some of the advances in genomic science with implications for healthcare, and refer to some of the dramatic advances reported since the publication of the report in July 2009. Watson and Crick described the structure of DNA in 1953, working in Cambridge. Fred Sanger, also from Cambridge, reported on the methodology of sequencing the human genome in 1977. The mapping of the complete human genome was reported in 2000 and cost around $3 billion. The mapping of the second human genome cost around $180 million. The third mapping—that of James Watson—cost around $1.3 million. The pace of the sequencing technology is such that both the speed of doing the sequencing and the cost is coming down by the month. The most recent report suggests the cost to be in the region of $10,000, with the prediction that within one to two years it will be down to $1,000 or even lower.
Moore’s law that applied to developments in microprocessing may well apply to the sequencing of the genome—some say to the point that regular and repeated sequencing of an individual patient’s genome will be routine practice in clinical medicine. High-throughput sequencing technologies open up myriad opportunities: the identification of rare variants of DNA that have a large effect in an individual’s risk of developing disease; gene mutation in cancers; de novo mutations in a range of diseases; monitoring the progress of disease; and effective treatment. Costs may even be less if targeted sequencing is used. Protein encoding axons of the 23,000 or so human genes comprise 1 per cent of the genome but contain 90 per cent of the mutations that cause disease. Of course, more scientific work is still necessary to increase the accuracy and relevance of the vast amount of information.
The United Kingdom will need adequate capacity for fast sequencing. Currently, only a few companies worldwide provide this. One of them, Oxford Nanopore Technologies is based in the United Kingdom, but China is building this capacity fast. Recent reports in the Lancet, New England Journal of Medicine and New York Times reported the identification of rare mutations of single-gene diseases such as Clarcot-Marie-Tooth disease, Miller syndrome and ciliary dyskinesia. These suggest that the identification of rare mutations of common multigene diseases, such as diabetes, heart disease, cancer, Alzheimer’s and others, using whole genome sequences, will be possible—and soon.
The scope of our report did not allow exploration of the role of environment in DNA modifications and disease without genome alteration in the science of epigenetics. Clearly, though, the ability to map the epigenome is crucial, as key elements in the development of disease are controlled by the epigenome—the chemical modifications not encoded in DNA that control how and when genes are expressed.
Pacific Biosciences, a company based in Menlo Park, California, which I visited last year, reported two weeks ago on an integrated system it has developed that simultaneously reads a genome sequence and detects an important epigenetic marker called DNA methylation, which reduces gene expression and is linked to disease development in many types of cancers. With the further refinement of technology, we might be heading towards a full-scale methylation map at a cost of hundreds of thousands of dollars. It will change our understanding of the behaviour and functionality of cells with identical genomes, and their association with disease development. While companies like Oxford Nanopore Technologies in the UK are developing such technologies, bigger investment is needed if the UK is to maintain its lead.
A recent report in the Lancet illustrates further benefits of rapid sequencing. Investigators were looking for novel mutations—rare variants in DNA—that could modulate a response to drugs. A 40 year-old healthy male with a family history of premature coronary heart disease, aortic aneurism and sudden death had his genomal sequence analysed. The report identified 63 known pharmacogenetic variants that could affect the person’s response to commonly used drugs, such as statins, Warfarin and Clopidogrel.
That brings me to pharmacogenetics—the way in which genetic variations across the genome affect drug metabolism. The right drug at the right dose for the right patient is the way to go for medication in future. Current estimates suggest that 400,000 patients a year in the NHS suffer severe drug reaction, with 15,000 to 20,000 resulting in fatal outcomes. We also make recommendations about the stratified use of medicines, an area of potential UK leadership if the right investment is made now. An increasing range of cancer drugs, such as Herceptin, Iressa and Erbitux, are effective in patients only if they have specific mutations in P13 kinase and other pathways. Breast cancer patients with HER2 receptors respond to the drug Herceptin. Similarly, patients with non-small cell lung cancer with EGF receptors respond to the drug Iressa. Further developments in molecular and genetic tests will lead to more patients being treated in a similar way.
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.
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 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, 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.
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 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 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.
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.
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 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. 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.
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 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.
The second political point—with a small “p”—is not quite as direct to the Minister, but a request to him to carry a message back. A measure of the impact of the report of the Science and Technology Select Committee is to be found, first, in this volume of evidence, and, secondly, in the subsequent reports from those who gave evidence in the first place in response to the Government’s reply. This is a measure of the impact of the importance of this committee. It is an impact which goes far beyond this Chamber. Will the Minister draw this to the attention of those who are charged with making proposals for the reform of the House of Lords? An elected House, which would have no room for the calibre of scientific expertise and wider scientific engagement which this committee attracts, would be a much impoverished House. That point needs to be before those who are to think about the future shape of this House.
However, perhaps I may slightly deviate from my noble friend Lord Patel, who expressed his disappointment eloquently on the government response. That was a relative disappointment: I simply have to add that if noble Lords had seen some of the government responses that I have seen over the years, this is pretty good. At least there are some proposals which suggest that the previous Government were interested in moving forward in this area, which are to be welcomed. The fact that there is a good, considered government response, although it does not agree on all points, is a civilised way of advancing debate on this important and complex topic. I shall come to this issue shortly.
As other speakers have indicated, I should like to say a word first on the broader context which we inhabit. In scientific terms, the context is one of significant scientific advance in this country and elsewhere. There are fruits to be cropped here of huge significance; namely, medically, the health of the nation, commercially for the economic health of the nation and so on. These advances give us the capacity over time to extend the range of medical treatments and the good health of the nation. It should be noted that most of the advances proposed in this report are potentially part of that holy grail of preventive medicine—that after which we all seek and strive, but to which we seldom pay sufficient attention. Preventive medicine is to be preferred to the rather more expensive remedial alternative. Again, this report gives a direction of travel if we are to make the most of that. That is the scientific context.
The economic context is well expressed in the perhaps ill judged joke—“Sorry there's no money left”. However, the truth of this is evident to all of us—we are in times of severe financial constraint. That constraint allows various responses. One response is special pleading on our part and I have no doubt that there will be a fair bit of that. There will be special pleading to say that this is important, and it is, but that is not the direction I wish to follow now. A second response is to cut and slash percentagewise across the board, which would be ill considered in this area. Let us be strategic in our thinking.
There are other responses, but the third, on which I want to focus, is that this constraint gives us an opportunity to consider future strategies in some detail. I hesitate to go so far as to say that this is the silver lining in the financial clouds, which would be rather overoptimistic, but there is the possibility of taking time for careful, calm and deliberative thought. We can be sure, for example, that no ambitious Minister will be ready to make his or her name with a promise of high-profile, short-term spending which has not been properly evidenced or evaluated, as we had before the election with suggestions around the House for spending on the long-term care of groups within the community—political stunts that did not bear discussion. We are absolved from the likelihood of that because of the financial picture within which we live. A time of financial retrenchment is a time when the backroom engine should be devoted to long-term planning and priority setting. It is not necessarily a time to say, “Let’s not discuss this, we can’t afford it”. It is a time to think through to the future when we hope we will be in better times.
In this spirit I warmly welcome the previous Government’s pre-election proposal to create a human genomics strategy group. I know that we wanted a White Paper—it would be good to have that too—but I see the potential value of such a group. Does this proposal have the support of the coalition Government? If not, why not? Perhaps I may be optimistic. If it does, might we first work on the remit and the membership of such a strategy group? There could be a very good starting point in asking the group chaired by my noble friend Lord Patel to give advice to the Government on what such a remit should be. It is not easy and completely obvious how best we should advance on this. My view is that the remit should not simply be confined to questions of a scientific, medical and technical nature—they should be central but not exclusive. I shall supplement my own suggestions on these issues by referring to the work of Generation Scotland, whose advisory board I have the privilege of chairing. Generation Scotland has a significant presence at my noble friend Lord Patel’s university, Dundee. It works in consort with the other Scottish universities with medical schools—Aberdeen, Edinburgh and Glasgow—and alongside the National Health Service for Scotland.
The intention is to build a database, which is complementary to the UK Biobank, but different in important respects. Largely through general practices in Dundee, Aberdeen and Glasgow, so far more than 15,000 families—I stress “families”—have been recruited to this study, which amounts to more than 70,000 individuals. Through genetic screening a picture is being built up of the correlation between family genetic inheritance and the medical histories of those families. It puts on to an evidential scientific basis the information that, informally and tentatively, a GP tries to piece together by asking when your parents died and, if you know, why they died. This is a scientific approach to providing data that will correlate genetic inheritance with perceived and actual illness patterns within families. The potential benefits are huge both for knowledge and for treatment.
So much for the example now happening in Scotland, and I draw on that, but what is its relevance to the proposed human genomic strategy group? One central conclusion I have drawn is that the oversight of such matters requires more than technical and scientific expertise. Certainly these are both central and essential, but a whole penumbra of related questions arise that may require much more than simply expertise in the scientific and technical context. They are issues of commercial exploitation—already referred to—of data sharing; of ethical principles and informed consent in relation to data sharing; and issues around the future shape of healthcare and the appropriate training and manpower needs that will arise as a result. There is a temptation to shunt all of these off to specialist committees, but it is too early to do that. A human genomic strategy group should be charged with recommendations not simply for the short term—tomorrow—but for the next decade and the decade after that. The issues of science, healthcare, commercial exploitation, ethics and regulation all bear on each other and would benefit, at least initially, from being considered in the round rather than by competing specialist committees that can easily become policy silos. In passing, I have to say that the sceptic in me does not think that there is such a thing as, for example, an ethical expert. There are experts who can aid ethical discussion, but ethics is a matter for the wider community and should not be shunted off to be considered by a separate body absent from those who know about the technology.
That is why I believe that the human genomic strategy board, if it is set up, would have important work to do and why its remit and membership should be a matter of careful discussion and decision-making. Since we cannot afford initially to commit hugely significant sums of money, we have the opportunity for thoughtfulness through this mechanism. I look forward to the Government’s response to this suggestion.
The Lord Bishop of Newcastle
My Lords, I, too, am pleased to have the chance to contribute to this debate and I want to thank the noble Lord, Lord Patel, and his colleagues for the excellent work set out in this report. I am pleased to be here not only because of the importance of the rapid advances in genomic medicine in recent years, but also because it enables me to pay tribute to some of the groundbreaking work that is being undertaken in my home city of Newcastle upon Tyne at the university, in the Centre for Life and in our NHS hospitals.
The links between genetic make-up and the diseases that afflict us are clearly established and I for one, as a non-specialist, am becoming much more aware of the possibilities that advances in molecular genetics seem to offer for the understanding, prevention and treatment of a wide range of complex diseases. I am aware of the advances that are being made so rapidly despite the very considerable complexities involved. I am also aware of Professor Sir John Burn and his work in identifying people with the gene that causes an inherited form of colorectal cancer, and of the clinical trials to test aspirin and a form of starch as inhibitors of the disease. That opens up the possibility of using simple food additives to prevent the development of that particular type of cancer.
Another area of research in Newcastle has been into a degenerative brain disease which it was previously assumed was a form of Parkinson’s or Huntingdon’s disease. Only by studying in great detail the individual genetic make-up of a large family was it possible to determine the cause of the disease and identify the genetic markers for it. Other research at the Centre for Life in Newcastle has involved the use of highly sophisticated genetic analyses of a large number of families to identify how genetic variability between individuals contributes to the risk of developing cardiovascular disease both in childhood and adulthood. None of those would have been possible without the DNA technologies that have been developed in the past 20 years, and I cannot help but wonder what the next 20 years will bring.
The advances in our understanding have been little short of extraordinary in the first years of this century, and rightly these advances have given rise to much excitement and enthusiasm. But they also give rise to a number of important issues which are addressed in this helpful report, so I will make a few points about some of the recommendations. First, I turn to the recommendation that the Office for the Strategic Coordination of Health Research should be tasked to,
“take the lead in developing a strategic vision for genomic medicine in the UK with a view to ensuring the effective translation of basic and clinical genomic research into clinical practice”.
That is a really good recommendation, but in the current climate of the culling of quangos, it is necessary to ensure that this body or any other is adequately funded for that purpose. Money spent on getting the strategic vision right is likely to save many times that amount in both waste and application in the absence of such a strategy.
The report also recognises the variety of stakeholders and institutions that are already active in the field of genomic research. It is essential for the public good that we,
“should identify the barriers to collaborative working between academia and the pharmaceutical and biotechnology industries”—
and the NHS—
“and ways of removing them”.
The first part of that task will be much more easily achieved than the second, but barriers to collaboration will have to be overcome. The recommendations that identify the changes required to incorporate genomic medicine into mainstream NHS are good, but they, too, inevitably will require an increase in personnel and resources if we are to obtain the best possible outcomes.
For genomic medicine to achieve optimum effect, it is important that a large database is established which is reflective of the population of the United Kingdom. Individuals agreeing to their genetic information being stored and used for research purposes must, of course, give their informed consent. Since, however, the potential uses to which their genetic information may be put are impossible to identify, unless the consent agreement is restricted to immediate and specific research, that raises a number of key questions. How informed is an individual’s consent if he or she does not know how the information is to be used? Is it right to ask for broad or blanket consent unless the individual is aware of the range of possible research projects? For example, information may be used to help research into cancer treatment, but it may also be used to aid antenatal diagnosis of disease that may provide the basis for an abortion. While some people may not have a problem with this, others most certainly will. And yet, at the same time, to restrict consent to certain types of research programmes may be overly prescriptive and impractical to police. We need a fuller debate in this area.
The report goes on to suggest that it is not necessary to introduce legislation to ban genetic discrimination. I remain to be convinced about this because if discrimination is rightly banned on the grounds of race, gender, disability or sexual orientation, then why not here? It would be possible for an employer to seek genetic information on current or future employees and then to make employment decisions based on that information. Can that be right? For people who have, for example, the gene for familial colorectal cancer or a gene which contributes to the likelihood of developing cardiovascular disease, this could lead to employers not wanting to employ—or certainly not wanting to invest in the training of—people who have those genes. Each of the genes would give a different risk of developing the disease and, in one case, there is a lifestyle contributory factor too. Would an employer be able to distinguish between some of the subtleties and the nuances? Surely it is too complex an area not to regulate through legislation.
Similarly, the recommendation that companies supplying direct-to-consumer tests should self-regulate rather than be subject to statutory regulation is highly questionable. Self-regulation has already been found wanting in other areas of public life; what leads us to think that commercial companies would be any good at it here? The potential for misinformation is too great to be left to companies, whose main aim, after all, is to make a profit.
When the first draft of the human genome was published in 2000, President Clinton described it as,
“the most wondrous map ever produced by mankind”,
and Prime Minister Tony Blair hailed it as a,
“revolution in medical science whose implications far surpass even the discovery of antibiotics”.
While of course, as we have heard, some genetic sequencing still remains to be completed, the past 10 years suggest that Clinton and Blair were not overengaging in hype. That is why I welcome the report. Although I am not sure about all the recommendations within it, it is an important step as we embark on the next stage of the exciting developments in genomic medicine.
Baroness Finlay of Llandaff
My Lords, I was fortunate enough to be co-opted on to the inquiry and it has been a great privilege to work alongside so many people from a scientific background, many of whom sit on our Cross Benches. I congratulate my noble friend Lord Patel on his chairing of the committee and on his splendid introduction today.
I wish to speak about stratified or personalised medicine, the area of genomic medicine predicted to hold great potential for healthcare in the near term. It entails matching treatments to specific patients using clinical biomarkers to target treatments effectively by taking account of patient susceptibility to particular drugs or to adverse drug reactions. The Royal College of Pathologists told us that it anticipates that DNA and RNA-based diagnostic approaches,
“will guide more appropriate treatment and avoid ineffective treatment, and will identify some patients who do not need treatment. [They] will be an absolute requirement before the administration of many new treatments, especially new anti-cancer drugs; [and] will increasingly allow the prior prediction of severe adverse [drug] reactions”.
However, doing the test is not enough; it is the clinical context that is crucial. Therefore any thoughts that over-the-counter tests could move things out of the clinical arena are misplaced. Tests can be misleading at best—but they can be worse than that if they are not conducted in a proper clinical context.
My noble friend Lord Patel has already spoken about the cancer treatments that have emerged indicating a likelihood of a response to drugs, particularly Herceptin and Iressa in breast and lung cancer respectively. It is worth noting that such testing has increased about threefold in the past two years.
However, there are problems surrounding, in general, the translation of research on pharmacogenetic tests into applications. At present there is little incentive for the pharmaceutical industry to develop the genomic tests because the business model relies on the consumption of a product—a rather blockbuster approach—to ensure a return on the substantial R&D investment which is needed to bring a drug to the market. However, stratified medicine targets a much smaller patient group and requires the development of accompanying tests, and these tests must be developed in parallel with the therapy itself.
Professor Sir John Bell suggested that,
“the delivery of a new set of genetic tools into the clinic has proved really difficult”.
One reason for this was that diagnostic companies could not be relied on,
“to do what is done in therapeutics, which is to demonstrate clinical utility”.
This was because,
“the cost of a clinical utility programme is such that, at the prices paid for diagnostics, they would never get the money back”.
We therefore recommended flexible pricing models for therapies that rely on the use of pharmacogenetic tests, the protection of intellectual property and the concurrent development and authorisation processes for therapies and diagnostic tests that will assess the clinical utility and validity of genetic and genomic tests within the NHS.
The previous Government’s response stated that the Department of Health had commissioned NICE to develop and manage a single evaluation pathway specifically for diagnostic technologies, with a pilot scheme due to report this summer. A new committee within NICE should ensure health technology assessments look at the clinical utility and validity of diagnostic tests. Can the Minister assure us that these developments are still on course? Can he clarify how the proposed value-based pricing system will allow targeted treatments to be more available, even if at a local level commissioning decisions do not support the necessary infrastructure? There may be a potential tension here between central promises and local sovereignty in decision-making.
This is particularly important when evaluating diagnostic tests. These are inherently more complex to evaluate and yet the funds for doing so are relatively trivial. Commissioners do not know when to invest in expensive testing equipment if its utility and validity has not been assessed, and so silo budgeting acts as a barrier to capital investments, leading to a postcode lottery in diagnostics. Decisions need to be made at a national strategic level, not locally, and it is essential that clinical genetics departments are supported. They should be linked and pivotal to informing studies into the whole commissioning process. Can the Minister confirm that the Department for Business, Innovation and Skills is working with the Department of Health to ensure that intellectual property systems and management of intellectual property rights support diagnostic test development, evaluation and rollout as we recommended?
The research community is collaborating to realise the potential of the NHS for the benefit of all. The network of hospitals in the NHS is ideally placed to link with research bodies. Indeed, the funding bodies are doing just that. This year Cancer Research UK will begin to establish a network of NHS centres using similar genetic techniques to guide treatment decisions. It will be the precursor to treating every NHS cancer patient in a similar way, perhaps in as little as five years. However, other genetic tests have not been integrated properly into healthcare. Our committee heard of the patchiness of testing, as has already been alluded to, for conditions such as diabetes.
There is a lack of clarity over funding streams for the use of such tests as part of treatments within non-genetic specialties, and there are inconsistencies in the ordering of such tests during consultations. As I have said, doing the test alone is not enough; it is the clinical context that is key. Genetic testing is usually in the genetics department’s budget and so is not necessarily more widely available. The cost of testing is increased if the patient has to be referred to be seen in genetics rather than a treating clinician taking responsibility for the whole process. Meanwhile, genetics departments are increasingly taken up with the delineation of single gene disorders as a subset of common complex disorders, and with the co-ordination of care for those with single gene, multi-system complex disease. Genetics departments are already facing potential overload.
To ensure better use of drugs we need a red flag system of automated warnings rolled out to ensure that appropriate tests happen routinely. This will result in a cost saving through stopping inappropriate prescribing and inappropriate testing and avoid adverse reactions.
The area that concerns me most of all is the failure of the Human Tissue Act to promote single gene testing for single gene sudden death disorders that mean that many young lives are lost. For more than 20 years we have been able to perform gene testing in the family and make an early diagnosis in the family of a risk of sudden cardiac death. NICE recommended the testing but at a clinical level it is not readily available.
One problem is that there is no clear definition at post-mortem of “retention” for tissue samples, so, whether or not anything is seen macroscopically, samples are not always sent for DNA testing. If the family is not integrally linked into the process, samples can fall between pathology, genetics and the coroners system, and a diagnostic opportunity for others in the family can be lost. Will the Minister assure me that we will look urgently at this matter so that all patients who die of suspected sudden cardiac death will have tissue removed post-mortem for comprehensive DNA analysis? That will be linked to genetic support. Such testing should be for multiple genes, because it will save lives.
The UK Genetic Testing Network is meant to be undertaking a review of service provision within the NHS to inform a consistent approach for single-gene disorders and single-gene subtypes of common disorders. Does the Minister know when we can expect the Government's comprehensive assessment of this? I realise that it is difficult for a Government who have only just taken over something already in progress.
An extension of genomic medicine is epigenetics; that is, changes in the gene expression caused by mechanisms other than a change in the underlying DNA. The molecular basis of these changes is related to the packaging proteins known collectively as chromatin. The changes are not encoded in the genome sequence so are not generally passed from generation to generation. We are seeing ever more examples of underlying genetic links, such as the link with addiction, where it seems that the serotonin and dopamine in the brain’s reward systems may be linked in some people when other factors come into play with developing addictions. However, it does not mean that everybody with that piece of genetic code will necessarily become an addict.
Understanding these developments provides a “fantastic window” on different types of common diseases, but genetic counselling and genetic support are key if we are going to use any advances appropriately. I must declare an interest: I am at Cardiff University, which has one of only two established MSc courses in genetic counselling in the UK. It is well on its way to becoming an independent discipline.
We need to ensure that genetic testing and services are supported today to ensure that developments are used to best advantage when they appear tomorrow.
Lord Colwyn
My Lords, I, too, thank the noble Lord, Lord Patel, for his effective chairing of this committee. I thank Professor Tim Aitman for his professional guidance and acknowledge the hard work of Christine Salmon Percival, Rachel Newton, Elisa Rubio, Cathleen Schulte and Cerise Burnett-Stuart. I also congratulate the noble Lord, Lord Winston, a member of our committee, on his guest appearance on the Front Bench.
This report has been described as a,
“remarkable summary of the state of science and the steps that the government should take if the NHS is to make the most of genomic medicine”.
I have been almost overwhelmed by the hundreds of documents and complexity of the information, but I am proud to have been associated with this inquiry into genomic medicine.
Ethical questions now need public discussion. I realise that any reference to “Government response” refers to the previous Administration and very much look forward to hearing my noble friend the Minister’s views on behalf of the new Government.
It seems likely that, in a few years, many babies will have their genetic code mapped at birth. One reading taken from a tiny drop of blood, as with the test for cystic fibrosis, will produce the single unit of heredity responsible for how we develop, grow, live and die. This will herald a new approach to medicine, where conditions such as diabetes and heart disease can be predicted and prevented. By examining inherited genetic variants, it is possible to identify raised risks of many conditions. Those at high risk can be screened more regularly and given advice and drugs to lower their chances of becoming ill.
This personalised medicine signals an enormous advance, revealing who is at risk, who will respond best to particular drugs and who will suffer the side effects of various treatments. These findings could lead to, for example, a genetic test of breast cancers to help doctors choose the right treatment for an individual patient, avoiding the current trial-and-error approach that in some cases exposes patients to the toxic side effects of a cancer drug that is destined to be ineffective.
The risks and social challenges posed by genetic tests and other health services sold direct to consumers have prompted various inquiries into personalised medicine. While DNA screens, personal MRI scans and internet advice services that bypass GPs have the potential to empower patients and encourage people to take greater responsibility for their health, they also have drawbacks. Genetic profiling services which screen DNA variations for links to disease traits are marketed as a way of identifying health risks that might be reduced by lifestyle changes or medical treatment. Companies sell products over the internet for a wide range of fees and many require no genetic counselling or medical supervision. Some tests have been criticised for delivering potentially misleading, unreliable or inconsistent results. There is not yet any evidence of real health benefits. The Select Committee made recommendations on the evaluation and regulation of genomic tests within and outside the NHS. The Government response to this, and to Peter Furness’s advice that the evaluation of diagnostic tests is inherently more complex and difficult than for therapeutic interventions, is vague.
The health service needs increasingly to involve the expertise of its laboratory scientists to turn a growing understanding of the human genome into better patient care. Training for NHS scientists should provide a broader grounding in genetics and equip scientists to be able to advise hospital doctors on which DNA tests might be appropriate and how to interpret the results. As part of this process, scientists may attend consultations between doctors and patients. They may play a key role, explaining to patients what the results are showing and working together as a team.
There were plans to trial a pilot scheme in the West Midlands last October before consideration of a national scheme. It was designed to help the NHS adapt to the rapid advances in genetics which could change the way that medicine is practised. As noble Lords will have heard, it is predicted that it may be possible to sequence a patient’s genome for £1,000 or less in the next two or three years, which may help doctors to provide care tailored to individual genetic profiles. The Select Committee believes that these developments require urgent reforms to NHS training and infrastructure.
Last year, there were many examples of the benefits of genetic screening tests. The first baby was born who had been screened to ensure that it was free of the breast cancer gene carried by a parent. At least 8 per cent of breast cancer cases are caused by specific genetic mutations. Identifying the rogue genes, BRCA1 and BRCA2, before the onset of disease will give people the chance to lead a lifestyle that minimises the chances of disease taking hold. Women with these defective genes are seven times more likely to develop breast cancer than those without the mutations. Faulty genes are responsible for between 5 per cent and 10 per cent of the 44,000 cases of breast cancer that occur in Britain each year.
As the noble Baroness, Lady Finlay, said, more personalised care has been promised following the discovery of a genetic signature that can determine whether breast cancer is likely to respond to common treatment. This allows doctors to predict which types of chemotherapy are most likely to benefit patients, sparing them some of the more toxic and unpleasant regimes that are unlikely to work.
The complete genetic codes of various cancers are being mapped. This information will transform treatment of the disease and has been described as the most significant milestone in cancer research in more than a decade. It is predicted that by 2020 all cancer patients will have their tumours analysed to find the genetic defects that cause them, with the information being used to select the appropriate treatments.
The Government agreed with the committee’s recommendation that the Department of Health, via NICE, instigate a programme for the evaluation of validity, utility and cost benefits of all new genomic tests for common diseases, including pharmacogenetic tests.
A genetic screening test could more than double the chances of pregnancy for women who undergo fertility treatment. A trial last year found that two out of three women having IVF became pregnant if their embryos were checked for abnormalities before being implanted, compared with less than one-third when the test was not used. The technique known as comparative genomic hybridisation checks chromosomes in the developing embryo and ensures that only those embryos with the best chance of becoming a healthy baby are used in fertility treatment.
The role of genetics in insurance has emerged as a controversial issue, with the development of increasingly reliable tests for DNA mutations and variations that are linked to disease. The possibility of an ability to sequence entire genomes at a reasonable cost within a few years and the widespread use of this test could open a new personalised approach to medicine in which diseases can be predicted and prevented, but the same data could be used by insurers to raise premiums for those whose genomes suggest an increased risk of illness, which could be a disincentive for taking tests.
The Association of British Insurers has placed a moratorium on genetic testing until 2014, with a revision due in 2011, the only exception being the Huntington’s predictive test whereby companies can demand test results for life policies worth more than £500,000 and health cover above £300,000. Privacy campaigners and some scientists have called for this to be hardened into legislation along the lines of the Genetic Information Nondiscrimination Act passed by the US in 2008. One issue that the Government response did not address was the committee’s recommendation that Government should negotiate with the ABI a new clause in the code of practice, moratorium and concordat on genetic testing and insurance that prevents insurers asking for the results of genetic tests which were carried out while the moratorium was in place. The committee said,
“we accept that action needs be taken to address a concern that the “sunset clause” of the insurance moratorium may deter individuals from taking genetic tests for fear of not being able to purchase adequate insurance cover after 2014”.
Some insurers have suggested that customers who take personal DNA tests may pay lower premiums because the results encourage a healthier lifestyle and that people who take genetic screening are likely to act on the results and therefore present a much better risk profile. Insurers may reflect this in premiums regardless of whether results are disclosed.
Currently, genetic susceptibility has reached a stage where only careful experimentation will provide the information needed to show whether testing should become part of the accepted standard of care. There is a danger of widespread testing without sufficient background information and the development of a market where products are not related to public health priorities and without benefit to the individuals and populations in greatest need.
In conclusion, having successfully managed to cut my speech from 28 minutes to l4—and now to 10—I thank the many experts and organisations who gave evidence to this fascinating inquiry. I think that it has made a significant contribution to improved health in the future. I hope that my noble friend will be able to indicate how this can be taken forward.
Lord Warner
My Lords, I begin by saying what a privilege it was to serve on this inquiry, which was so skilfully chaired by the noble Lord, Lord Patel. We owe him a great deal of gratitude for ensuring the presence of scientific stars of a positive World Cup standard, who appeared before us to give evidence that helped to inform our report. I also look forward to the appearance of my noble friend Lord Winston on the Front Bench. I wish only that the Labour Party had thought of the idea of guest spokesmen on the Front Bench when I was a Minister. I thank Tim Aitman and wish him a happy birthday and thank all the clerks’ office staff for the work that they put in.
This was an important report for the NHS and patients. It is based on extensive evidence-gathering. As a committee, we were fully seized of the state of the public finances, and we went to some trouble not to produce a wish-list of things to please scientists and damage the Government’s finances further. We have been hard-headed in the recommendations we have made, with a strong focus on things that will benefit patients. What is, however, clear is that in the world of genomic medicine things will not stand still but will change at a rapid pace whatever a UK Government do about this report. It looks as though linking therapies for identifiable individuals with common diseases is progressing very rapidly, and we cannot ignore, as the noble Lord, Lord Taverne, said, the speed of that progress.
The UK has traditionally been a world leader in the field of genetics and we were told consistently that it has punched above its weight in genomic research. That was reflected in the 2003 White Paper that I was involved in as the responsible Health Minister. The world moves on, with many advances overseas, especially in the US and China, but the UK still has a major advantage if we choose to use it wisely—a National Health Service, with universal population coverage and health data. This provides a strong scope for population-based approaches to early diagnosis of diseases and targeted personal drug therapies. Moreover, the cost of burgeoning genetic knowledge is falling rapidly, as the noble Lord, Lord Patel, described so well.
The pace of change presents serious challenges to government and the NHS. To be honest, I found the previous Government's response to our report disappointing and, if I may say so, in some respects slightly complacent. I note that respected bodies such as the Wellcome Trust, and others, were also disappointed in that response. Too much of it looked back to what the Government had done rather than forward to what the Government and the NHS needed to do, given the pace of change. I can see that there could be a case for setting up a Human Genomics Strategy Group, which seems to be the cornerstone of the previous Government's response, but my fear is that this will be a poorly resourced talking shop with no clear mission statement and without the authority to drive change. For me, the unwillingness to produce a new White Paper that looks ahead for five to 10 years and sets out a new agenda for genomics within an NHS context is a sign of the Department of Health's reluctance to define and drive a new agenda through a HGSG or alternative machinery. After so many years around government, I have developed an expertise in recognising bureaucratic inertia, which is what this could be interpreted as. So my first question to the Minister is whether he and his colleagues in the new Government are willing to revisit the issue of producing a forward-looking White Paper and creating a more sharply defined machinery for driving forward a new agenda in this area. That would be totally consistent with the efficiency and quality agenda for the NHS that the new Government wish to produce.
I shall confine myself to a few specific issues on the other points in the report around the translation of this new knowledge into patient benefit. The NHS in my experience has a mixed track record in translating discoveries from the lab to the bedside. There are four of these translation aspects in the report that I have concerns about. The first is extending the remit of NICE to evaluate validity, utility and cost-benefits of genomic tests for common diseases. The noble Baroness, Lady Finlay, has spoken in more detail about this critical area. We thought that it was best to place this responsibility on an existing, respected body, and I think that that was the right thing to do. However, as a former Minister responsible for NICE, I know how many new duties have been piled upon it. Can we be confident that NICE will have the resources, including the specialised expertise, to take on this demanding new role, and when can we expect to see this new role featuring substantively in NICE's work programme?
My second area of concern relates to pathology, on which the noble Earl, Lord Selborne, has spoken. We deliberately proposed centralising laboratory services for molecular pathology as a way of making the efficiency savings that would fund much of the new equipment that will be required and on the basis of evidence given to us, particularly in relation to Oxford from Sir John Bell.
Amalgamation also goes with the flow of the two reports on NHS pathology services by my noble friend Lord Carter of Coles, who, if I may put it this way, I unleashed on these services when I was a Minister nearly five years ago. However, never underestimate the capacity of parts of the NHS to resist change. As the committee indicated in its report, implementation of the Carter proposals has been painfully slow, given the scale of the possible savings that the noble Earl, Lord Selborne, described. The previous Government’s response on this issue was hardly galvanising, even though they sort of accepted our recommendation. Their proposal was that SHA medical directors were to lead work on pathology service redesign to bring together pathology and genetics laboratories. I certainly would not have bet the farm on this achieving change quickly in the face of longstanding resistance from many local consultant pathologists, but if SHAs are to be abolished in 2012, I would expect even less to happen between now and then.
Will the Minister have another look at this whole area, including the Carter recommendations, and come up with a more convincing plan that is also likely to deliver substantial savings and improve services? I remind him that when I was a Minister setting up the Carter review, we were thinking then in terms of 20 per cent savings on the cost of the pathology services by consolidation and amalgamation.
My third area of concern is commissioning, where the previous Government rejected the committee's recommendation that changes were needed in the commissioning of genetic tests because of the inconsistency across the NHS in the provision of genetic tests and genetic testing for subtypes of common diseases. The noble Lord, Lord Patel, has already referred to the risk of a postcode lottery with regard to the availability of these tests. The then Government wanted to rely on the web portal NHS evidence to inform commissioners, and on the current commissioning arrangements. The respected PHG Foundation has sided with the committee after expert workshops looked at this issue among others. In a report published last month, the foundation said that the DoH,
“should review how NHS funding mechanisms act as a barrier to the utilisation of new tests”,
and that, in effect, these make it difficult to realise cost savings throughout the healthcare economy. Given that the new Government have in mind new approaches to commissioning, this would seem a good opportunity to revisit the concerns over the commissioning of genetic tests that others have raised. Will the Minister be prepared to do this?
My final point relates to issue of medical bioinformatics, which is critical to success in this area, as other noble Lords have mentioned. All the evidence that we received suggested that a shortage of bioinformatics personnel and kit was likely to be one of the greatest impediments that the NHS would face in using the new genetic knowledge. I am pleased that the previous Government accepted that more secure funding for the European Bioinformatics Institute was needed. We hope that this will not be a victim of cuts. However, I have grave doubts about whether the DoH is doing enough to provide sufficient bioinformatics capability to the NHS through its Modernising Scientific Careers programme, which seems to be its process of choice. That is why we recommended the establishment of an institute of biomedical informatics. I encourage the Minister to get his colleagues to look again at this proposal, particularly drawing on the potential for savings, as a number of us have said, from consolidation in the pathology area.
I recognise that there is a lot of detail in these questions and that the Minister may well need to take further advice. We should say to him, though, that the Science and Technology Committee—I hope—will continue to keep a beady eye on this area and progress in it.
Lord Kakkar
My Lords, I, too, congratulate my noble friend Lord Patel and members of the Science and Technology Committee on this excellent report. I was not a Member of your Lordships’ House when the report was first published but I have had the opportunity to speak to my noble friend about its recommendations, and I agree with my noble friend Lord Sutherland of Houndwood that the implications of the report will be read throughout the world. It is a thorough, thoughtful and authoritative piece of work, and I am sure that many other Governments and authorities will wish to consider its recommendations as they consider an issue that will affect the provision of healthcare throughout the world.
The advances in genomic medicine that we have heard about in this debate are profound and, as we have heard, are starting to affect clinical practice today in the management of common diseases. There is no doubt as we move forward that the research that is being undertaken in this country and in other parts of the world will start to resonate, in terms of both what is available for our patients and what our patients and the general public hear about. This will drive patient and public expectation. We have heard that genetic testing and new diagnostic strategies will be available, not only through mechanisms provided through the National Health Service and other care institutions, but, as we have heard, will be available independent of healthcare institutions and systems. This will pose a considerable challenge for medical practice. Medical practitioners will be keen to do the very best for their patients and respond to their inquiries, but they will not be able to do that if they are not trained and educated in the new science of genomic medicine.
I shall concentrate on the issue of the recommendations in chapter 7 of the report—those related to education, training and workforce planning. If we do not get this right, many of the potential advantages and benefits that we could potentially provide to society will be lost in the medium term, and in fact there will be opportunities for misunderstanding as the available science is misunderstood and clinical practitioners are not able to respond.
Some important areas have been identified in the report regarding the question of primary education, subsequent training and continuing professional development. With regard to undergraduate medical education, the General Medical Council, in its publication Tomorrow’s Doctors, which was updated in 2009, has recognised the importance of including a requirement for the teaching of genetics in the curriculums offered by higher education institutions in the United Kingdom offering primary medical qualifications. There is no doubt that these will be adopted because the recommendations in Tomorrow’s Doctors will have to be applied by 2011-12, so we can feel certain that new generations of medical students moving into the next stage of their training will have knowledge about this important new science and will therefore be ready in their subsequent training to learn how to apply it.
We need to be certain that those training programmes both for primary and secondary care across the disciplines and sub-specialties have a requirement to ensure a core competency in the understanding of genomic medicine as it applies to that specific discipline. That has been agreed in terms of the Government’s response, but we need to make certain that it is applied. The coming together of the General Medical Council and the Postgraduate Medical Education and Training Board certainly suggests an opportunity for that to happen. I hope that the noble Earl will confirm that this will remain an area of focus so that the training we provide ensures the opportunity for practitioners to be able to respond not only to knowledge currently available but knowledge that will become available in the near and medium-term future. As we have heard in this debate, so much research is taking place in this particular area that advances will come thick and fast.
Then there is the issue of current practitioners—a very large proportion of the workforce—who were educated and undertook their training prior to the whole emergence of the field of genomic medicine. They will be seeing patients and members of the general public with the results of tests and inquiries about the implications of genetic and genomic medicine on their own health day in and day out, but they have not been trained to date. We need mechanisms for continuing professional development that ensure that as advances become available, and are being considered by our healthcare systems, they can be readily made available to practitioners so that they are able to respond to inquiries from their patients. That will be hugely important because large numbers of doctors and other healthcare professionals will be confronted with these challenges. We need to make sure that we have considered this and that we have appropriate mechanisms available to ensure that continuing professional development also provides opportunities as we go forward.
If we do not do that, the advances that come from all the excellent research and technology that we have heard about will not be readily available to patients as soon as we would hope. That will cause anxiety and unhappiness. It will miss opportunities in terms of protecting people and providing early opportunities for diagnosis and better treatment outcomes. Therefore, I urge the Government to look at this whole area of training and education in terms of taking forward the excellent recommendations in this report.
Lord Winston
My Lords, I find myself in a slightly strange position. That is partly because I am speaking for the Opposition but when the Opposition were in Government we produced the reply to this Select Committee. As a member of that committee, I would like to say how grateful I am for the remarkable chairmanship of who I hope I can call my noble friend Lord Patel and the expertise of that committee in general. I am also grateful to Professor Aitman who is a colleague of mine at Imperial College, and to the wonderful clerks on the Select Committee.
I hope that it is in order for me to say what a privilege it is to be speaking opposite the noble Earl, Lord Howe. I have not yet had a chance to congratulate him on his appointment as a Minister. It is only fair to tell him that on this side of the House he is greatly respected and admired at the Dispatch Box. His general approach to difficult areas of medicine has been quite remarkable.
The noble Lord, Lord Patel, started by talking about single-gene disorders, because clearly that is one area where this kind of medicine has an immediate impact. It is worth bearing in mind that there are around 6,000 single-gene disorders. These are defects in the printing of a gene that can make for a serious, often fatal, disease, quite commonly in very young people and usually in young children. These diseases are truly frightening and when they affect families they are very serious indeed, with the exception of one or two, such as colour blindness.
Of course, the problem is that many of those 6,000 genetic diseases have different printings in the DNA. For example, the biggest single-gene defect is one in the dystrophin gene which makes muscle, which is 2.5 million base pairs or so long. In the region that codes for the protein, there can be one of several hundred different printing defects that may give different versions of the disease, which makes genomic medicine not quite as easy as it sounds. That kind of problem is echoed constantly throughout genomics.
One of the problems is that, very often, there are misprints or changes in printing in the 3 billion pairs of letters, hence the important plea of the noble Earl, Lord Selborne, about the need for bioinformatics. My goodness, he is right. He is spot on. Without that computer information, it will be a very difficult job to untangle many of these things. That must be a key issue for the Government to consider as urgently as possible, because we need to be collecting that data. Some of our witnesses suggested that that might be more easy than perhaps was at first suspected. Dame Janet Thornton, for example, said, in response to the noble Baroness, Lady Finlay, during one of our sessions,
“we need somewhere in the UK which has a clear mandate to handle the biomedical records with that as their first priority”.
The idea that she could localise those kinds of services fairly simply is one that we need to look at in the health service which, it is fair to say, has been bedevilled with computer problems and difficulties with storing information in IT.
The noble Lord, Lord Patel, said also that the response of the Government was poor. I would be inclined to agree, although as a Front-Bench spokesman—however much as a guest—I have to be careful how I handle that issue. The response was not entirely poor. To be fair, one of the concerns, as the noble Lord pointed out, is that there have been massive developments, even in the past six month. That is one reason why some of the recommendations in this report that were rather poorly responded to last year might be worth revisiting—for example, the extraordinary speed at which we can now carry out genome sequencing, whereby we can measure not only the genome itself but the state of the genome. I want to talk about that again in a minute, because the state of the genome will be the key to some aspects of genetics over the next decade.
This is one of the most important genetic issues facing the NHS. There can be no more important subject in medicine than our genes. That is why the massive hype about the genome project was quite understandable. It was a gross exaggeration of Mike Dexter of the Wellcome Trust to say that the project was more important than the invention of the wheel, because 10 years later the wheel has not actually turned. When President Clinton talked about it in terms of our humanity, I would argue that we actually learnt more about our humanity from the 1599 copy of Hamlet, produced in London. We must have a sense of proportion, and that is very important for the Government when learning how and where they have to focus precious resources. I will come back to that.
None the less, the genome is an extraordinary issue in medicine. It is quite different from anything else, because essentially the genome does not deal with disease, but primarily with well people. That is where the information has to come from, and that is why it is rather different from most kinds of treatment. It is also the basis for pretty well every human disease. That is a curious paradox of a sort. The genome goes beyond just disease. It includes our well-being. It includes, to some extent, our status; we have hereditary influences in our genome which affect all sorts of human aptitudes. They are important in human society, and the genome will in time no doubt contribute to that when we understand it better.
The noble Lord, Lord Patel, mentioned the epigenome. I should like to explore that a little, because for some people it is a mysterious topic. It is extraordinary that the state of the genome—what is happening to the DNA at any one time; not the printing, which is what we measure in a sequence—is really important. Researchers are beginning to understand that it is of growing importance. For example, in this country we have an important centre at the University of Southampton. Work is continuing in other universities, at the University of Auckland in New Zealand, in Singapore and in the United States. It turns out, for example, that subtle influences on the DNA printing can decide whether or not that portion of the genome will actually work. That is what epigenetics is at least partly about.
Let me give noble Lords just one extraordinary example. A few years ago, a massive ice storm affected the eastern part of Ontario and just beyond. As a result, literally tens of thousands of power lines went down, there was a massive power cut, many people were left in darkness for up to six weeks, they lived in freezing temperatures and the temperatures outside were often minus 20. There were women trapped in their houses for six weeks; they could not use the telephone and they could not go out to shop. The interesting issue is that Michael Meaney, from McGill University, has shown that a number of women who were between 18 and 24 weeks pregnant gave birth to children who displayed quite significant differences some years after they were born. For example, their cognitive ability was different. We do not fully understand why that should be, but it was almost certainly modulated by the hormone cortisol, which occurs in times of stress, and it is probably an epigenetic effect.
As animal research grows, we see more examples of states which affect our well-being in all sorts of ways that are important in epigenetics. There are also other patterns of inheritance which are not just related to the DNA but involve possibly proteins, certainly micro RNAs and probably parts of the chromosome. This pattern of inheritance is difficult and we do not fully understand how generational it is—that is, over how many generations these changes may occur. The thought that you might change somebody in childhood, and that that change is then inherited by the next generation, is something that we need to concern ourselves with very carefully.
Drug development has been mentioned by a number of speakers. The key problem for the drug companies is that to develop a new drug costs around half a billion pounds. I have a good deal of sympathy with this and do not know how the Government should handle it. It requires many years of development to screen 5,000 or 6,000 compounds to find one that is of use. We know that there are specific drugs which clearly help individual cancer victims, but at present—as I know from sad personal experience—several people with cancer have visited units in the United States to get specific genomic treatment for their cancer. It seems rather sad that our own patients cannot get this treatment.
In other areas, the classic example is of a drug designed for asthma. Most asthma in children responds to a very common and cheap drug—salbutamol. However, some patients do not respond. It is thought that those patients can be picked out by research going on around the country in several different centres, and which might influence their chest disease. One should not forget that asthma can be a very serious disease—sometimes almost fatal in some children.
Several people, including the noble Lord, Lord Taverne, mentioned the Human Genomics Strategy Group. Given the rapid increase in knowledge, my noble friend Lord Warner’s plea for a White Paper has a lot of merit. However, if there was a strategy group, its problem would be how to focus what it does and make it absolutely pertinent. To whom would it be answerable? How do you implement the effects, the research and the evidence that it takes? This kind of problem is always a difficulty for Parliament. I know my noble friend Lady Royall said that she might have struck lucky this evening; I am not sure that she has. My noble friend Lord Warner was rather kind as well but we will gloss over that rather quickly.
Preventive medicine, which was raised by the noble Lord, Lord Sutherland, is a key issue and almost the reason for this report. The problem is that preventive medicine in general has quite a chequered history. It has always been difficult, in practice, to find what you can prevent successfully. The noble Lord is right, but I am not certain about how we can best do that.
The work that is going on in Newcastle is, as the right reverend Prelate said, marvellous. It is a wonderful university, doing some fantastic work. Among other things, it does something key which is mentioned in the report in some detail—that is, public engagement. The Government’s response to that is less than adequate. It is not sufficient just to add Sciencewise, much as I champion it. There are all sorts of things that we should be doing in schools and universities to promote better understanding of genomics. We should make sure that research councils and possibly even charities write into their research grant applications that there is some need to present this work in a way that is accessible to the public; and that we, as scientists, listen to the public’s concerns. This is equally important and something that we must continue to emphasise.
As the noble Baroness, Lady Finlay, said, Cancer Research UK does wonderful work, but we should not leave this collection of data entirely to a charity. This poses a major problem for us. The Government must co-ordinate it; if not, we will be lost in the long term.
The noble Lord, Lord Colwyn, who I do not think is in his place, was rather kind to me as a guest spokesman. However, I see that he is sitting on the Woolsack, which makes him even more respected. He mentioned the breast cancer gene BRCA1. That research started in my laboratory, so I am rather proud of the fact that pre-implantation diagnosis, and what followed, has been widely adopted. The problem is that it has been very difficult to get the sequencing from NHS units because of the fragmentation of the NHS. Co-ordination across the NHS in this respect is still poor. We have to be rather careful about promoting the screening of embryos in general. Although it is interesting, to impose another clinical procedure on a developing egg may not be wise and could in time cause its own epigenetic problems. That is another reason why we need more research in this area.
I wish to make a few points to wrap up. The Government have a tremendously difficult job in this regard, as would any Government, and I do not envy them. The noble Lord, Lord Warner, referred to our implementation of MRI. I first put a rabbit in an MRI machine at Hammersmith Hospital in about 1975, before people were doing it with biological organisms, but it took some 25 years before we began to use MRI regularly with patients. However, it has been remarkably difficult until recently to get MRI scans done because of the colossal expense for the NHS. That is a massive issue. Moreover, common diseases of the genome are still very elusive. Heart disease has been mentioned, but mental illness poses another huge problem for the health service, as do degenerative disorders. Diabetes is particularly elusive in terms of its genome, but perhaps that will change. To some extent the prediction, at least, of cancer is still a problem.
In recognising genomics, we must not forget the need to continue with genetics. Some witnesses have tried to draw a distinction and argue that we should use only the term “genetics”, and the Government have commented on that. I argue that we need to recognise that some of the research that we have to do, which must involve the animal model, particularly rodents, must be protected. That is often difficult to do, given the regulatory framework. It is possible, but sometimes not easy, to get through that, but young researchers may be put off that research. It needs to be connected up with our work on genomics.
I agree with what the noble Lord, Lord Kakkar, said. This report shows the Select Committee at its best. The committee members were clearly totally impartial, expert and willing to learn and work hard. Looking across the Chamber, I find it impossible to tell which members of the committee were hereditary Peers or what political affiliation they had, if any. We worked together as a team and showed exactly what the House of Lords is about and should be about. The report sets a good example and I am pleased to think that it might have influence outside this country.
Although we as doctors want to chase diagnoses, we must not forget that what the patient needs is treatment. There is a risk in all this of relying simply on the laboratory. We have to remember that the key skill for a doctor is less and less evident in the modern health service—the need to continue to listen to our patients.
The Parliamentary Under-Secretary of State, Department of Health (Earl Howe)
My Lords, I join other noble Lords in thanking the noble Lord, Lord Patel, for his excellent introduction to this debate, which was of particularly high quality and which was crowned by the coruscating contribution that we have just heard from the noble Lord, Lord Winston. It provides the new Government with the chance to hear, first hand, your Lordships’ views on this important area of science—one that offers so much potential to improve the health of our nation, as we have heard.
The United Kingdom has a well deserved worldwide reputation for its work in the field of genetics—the study of individual genes—and now genomics, which is the study of the interaction between genes: if genomics is like a garden, genetics is like a single plant. It is now more than half a century since Watson and Crick published their research on the double helix, while this year marks the 10th anniversary of the human genome project. The sequencing of the human genome has not only revolutionised the way in which we view ourselves as human beings, but it has led to many practical benefits, including new medicines and diagnostic tools. Throughout, British scientists have been at the forefront of this groundbreaking technology. It is a technology that increasingly brings economic benefits, as well as important improvements in healthcare.
The inquiry by your Lordships’ committee was thorough in its investigation and forthright in its conclusion, which was that this reputation, and the benefits that the science could bring, would be at risk if action were not taken to ensure that we remained at the forefront of genetic technology. The benefits are real—for patients, business and society. That is why the government response was a joint one from the Department of Health and the Department for Business, Innovation and Skills. That collaboration continues, ensuring that the UK is a place where technology and enterprise can flourish within a transparent, facilitating regulatory environment that encourages, not stifles, innovation. This includes eliminating obsolete and inefficient regulation. We want regulation to complement, not complicate, the way in which people work—not, incidentally, just in the UK but also at a European level. We will work with the EU to improve current guidelines and ensure that initiatives on research and regulation meet UK objectives.
As your Lordships’ committee rightly said, the 2003 genetics White Paper recognised the potential impact of genetics and the genome project, as well as the importance of preparing the NHS to take advantage of these developments. These were laudable aspirations, and some advances were made in the diagnosis and treatment of rare single gene disorders, yet the accompanying strategy has proved incapable of keeping pace with the speed of change in this field—a point well made by a number of noble Lords. This inability to respond to a rapidly changing landscape means, as the committee rightly concluded, that doctors, nurses and other healthcare specialists are unable fully to exploit these developments for the benefit of their patients. Clearly, this Government want NHS patients to be able to access the best medical advances that genomics will bring.
As many noble Lords mentioned, the Human Genomics Strategy Group has already been established under the chairmanship of Professor Sir John Bell. Its remit is to develop strategic options for genomics in the NHS—that is, to work with the objective of ensuring enhanced patient services through the better use of advances in research and technology. We are fully supportive of the work of that group. The noble Lord, Lord Sutherland, made various proposals for the group’s remit and I shall see that that remit and the development plan for the group are shared with the Science and Technology Committee. I will invite him to share his thoughts on both documents with the chair, Sir John Bell. He may like to know that the group had its inaugural meeting on 25 May.
The noble Lord, Lord Taverne, asked about the funding of the group and I think that the noble Lord, Lord Warner, expressed a few fears on that front. I agree that we need to ensure that the group is properly supported. That is why we provided this support through the Department of Health, which I trust will continue.
As the noble Lord, Lord Patel, and many other noble Lords pointed out, we are already seeing some important developments in relation to patients with diseases such as cancer and diabetes. Scientists are finding new genetic mutations that can help to define alternative treatments. We can identify patients who respond better or who suffer more severe side effects from a particular drug, helping to ensure that it is appropriately prescribed. The development of these stratified medicines has the potential to improve patient outcomes without increasing the cost to the NHS.
In laboratories, the new DNA sequencing machines have increased capacity so that a single laboratory can sequence more data in one day than was achieved during the entire human genome project. Utilising this capacity effectively across all branches of medicine will save the NHS millions. We are linking DNA sequencing with advanced IT to diagnose children born with severe congenital problems and to help guide their treatment and care. All these achievements are opening up a new world of healthcare that can be tailored more effectively and efficiently towards individual patients.
The Government are determined to develop a patient-led NHS that delivers better health outcomes. It is clear that genetics and genomics have an important role to play in achieving this aim. However, before moving forward, we must ensure that we are getting the most from the investment already made. Services should be commissioned by those best placed to make the decisions—doctors in consultation with patients who are free to make confident choices about their own healthcare, and better manage it as well. To make that happen we need a commissioning system that is consistent and provides appropriate services to NHS patients and their families. The UK genetic testing network is already working with specialised commissioners to determine how these services can be improved.
While we need to ensure that the NHS benefits from advances in genomic medicine we must also make sure that existing services are fit for purpose and are accessible. As the report rightly pointed out, ensuring that NHS staff have the necessary skills to use genetic testing effectively is a vital component of providing better services. We want to see that addressed as soon as possible so that the roughly 400 types of genetic tests already available are better used by NHS staff. That is why we support the work of the GMC’s Tomorrow’s Doctors programme, which sets out the requirements for the knowledge, skill and behaviours that undergraduate medical students should learn. It includes a requirement on medical schools to cover genetics in their curricula and provides flexibility on how best to cover its application and its place in diagnosis.
Reducing the budget deficit is the main priority of the Government but even if that were not the case the public still have the right to expect NHS services to be provided in the most cost-effective way possible. We have a duty to identify any practice that is not providing value for money and to take action to remedy the situation. That is why the Department of Health is pushing ahead with the recommendations of the Carter review on modernising pathology services, as mentioned by the noble Lord, Lord Warner. They deliver the highest volume of genetic testing services by far. This will see the services rationalised and reconfigured to increase the quality, productivity, efficiency and effectiveness of pathology services. I say to the noble Lord, Lord Warner, that the size and importance of these services mean that we have a duty to ensure that they are as effective and efficient as possible. The Carter review estimated that the reconfiguration of services could improve quality and realise £250 million to £500 million efficiency savings annually. It is our challenge to realise that potential.
The public have a right to hold us accountable for the way in which we invest in the NHS and to be confident that its primary focus is to improve outcomes. The Government will ensure that these principles are applied across all genetics testing services available to the NHS. The noble Lord, Lord Patel, spoke about clinical trials. Currently, the Department of Health, the MHRA and the MRC are considering what the obstacles are to the initiation and conduct of clinical trials in the UK and how these might be addressed. The MHRA is also working with European colleagues to identify any issues at a European level. The Government consult all interested parties when considering changes to legislation.
The noble Lord also raised the issue of inconsistencies in access to the provision of genetic services. Clearly articulated commissioning competences will ensure that commissioners can incorporate new scientific developments into their commissioning decisions and deal with unacceptable variations in access to care and treatment. As the noble Lord, Lord Kakkar, rightly pointed out, one of the keys to this is education. That function is currently provided by the National Genetics Education and Development Centre based at Birmingham Women’s NHS Foundation Trust. We have agreed a work programme for 2010-11 with the trust. It is agreed to target key professional groups for the programme. Future provision will be further considered through the work of the strategy group and in consultation with the trust and the centre.
The National Genetics Education and Development Centre has already made good progress in raising the need for genetics to be part of the curricular and CIPD programmes across the medical professions, but we recognise that this conversation must be had with the royal colleges and the GMC, which are best placed to advise on curricular content for the professions that they represent.
My noble friend Lord Selborne, whose speech on bioinformatics I listened to with close attention, asked a number of questions. It is still very unclear what type of bioinformatics will be needed for genetic testing, and what their true role will be in supporting genetic services. Work is already under way at Manchester National Genetics Reference Laboratory, and the NHS chair on pharmacogenetics based at the University of Liverpool is carrying out further research into how this new technology can best be utilised.
The noble Lord, Lord Patel, and my noble friend Lord Selborne asked whether the Government intend to establish an institute for bioinformatics. The Government’s main priority is to reduce the budget deficit and so I cannot give a commitment now on this matter. However, the Human Genomics Strategy Group will lead on giving this issue further consideration as it looks at how best we might take forward issues such as the proposed institute.
The right reverend Prelate the Bishop of Newcastle and my noble friend Lord Colwyn referred to predictive genetic testing. My noble friend rightly said that there is a moratorium on predictive genetic test results until 2014—certainly by insurance companies. We are due to review the concordat and moratorium in 2011 and we believe that that is the right time to review the Select Committee’s recommendation. We will specifically examine the question about whether a long-term agreement about the use of genetic testing for insurance purposes is appropriate.
The noble Baroness, Lady Finlay, asked whether the Department of Health had commissioned NICE to develop and manage a single evaluation pathway specifically for diagnostic technologies. Good progress has been made. NICE’s evaluation pathway programme for medical technologies and diagnostic assessment programme are already helping the NHS to adopt effective and cost-effective medical devices and diagnostics more rapidly and consistently. She asked about the role of value-based pricing and perhaps I may write to her on that. It is a matter slightly for the medium term, but I will write to her on that even though our thoughts are not yet fully worked out.
The noble Baroness also raised the issue of BIS working with the Department of Health to ensure that the intellectual property system supports diagnostic test development. Intellectual property issues will be considered as part of the innovation sub-group of the Human Genomics Strategy Group and BIS is fully engaged with the department in taking that matter forward. She also spoke about single-gene testing for sudden cardiac death. As she knows, the taking of human tissue for any scientific or medical purposes is governed by the Human Tissue Act, which is essentially based on consent. However, I would like to provide the noble Baroness with a fuller answer and so I will take this issue away and ask my officials to supply more detailed information.
My noble friend Lord Colwyn spoke about genetic testing kits sold to the general public and expressed his worry about that. Often, the answer proposed is that there should be some form of regulation. We have thought about that carefully, but we cannot see that compulsory regulation would be effective, given the cross-border nature of the market delivered by the internet. The Human Genetics Commission’s common framework of principles provides what we see as a proportionate and effective response, given the support that it has received from the international industry and other interested parties.
The noble Lord, Lord Warner, asked whether NICE was evaluating genomic tests for common diseases. Good progress has been made. NICE’s new medical technology advisory committee has been appointed and NICE’s evaluation pathway programme for medical technologies and diagnostics assessment is already helping the NHS to adopt effective and cost-effective medical devices more rapidly. The noble Lord referred to the excellent and interesting report by the PHG Foundation, a copy of which I have. We have noted that report with considerable interest. The Human Genomics Strategy Group has been asked to note the recommendations in that report as part of its work to develop a strategic vision.
The noble Lord spoke about the commissioning of genetic testing in the NHS, which was a subject raised by several noble Lords. The UK Genetic Testing Network is part of the national specialised commissioning team in the London NHS. It currently offers more than 400 genetic tests for single gene disorders. Those are available across the NHS. It is held up as an excellent template for the evaluation and commissioning of genetic tests. It is widely admired and copied across the world.
Several noble Lords, not least the noble Lord, Lord Patel, have put the $64,000 question to me about the possibility of a White Paper. I have to disappoint the noble Lord, because we do not believe that there is compelling evidence for a White Paper on genomic medicine at the moment. The point of a White Paper would be to address a perceived lack of strategic direction. I hope that I have shown that that is not an issue, not least because of Sir John Bell’s strategy group. That is particularly true because the White Paper of 2003 was reviewed in 2008; several initiatives were refreshed, including the strengthening of specialised genetic services, building genetics into mainstream services, spreading knowledge across the NHS and generating new applications. That is clearly a matter that we will have to keep under review.
Like your Lordships’ committee, we want a future strategy for these services. That strategy must be clear, patient-led and deliver better health outcomes at a time when the national finances are in a mess. We look to Sir John Bell to provide us with that road map. We need to look at what we have already achieved and ensure that the system is delivering what the NHS needs. If not, we must be committed to making the necessary changes to make it work. Finally, we must be creative in how we deliver to ensure that we not only maintain our reputation for the science in this area but translate that science into services for NHS patients.
It is my hope, as it is the Government’s, that Members of this House, especially the noble Lord, Lord Patel, will continue to provide us with the benefit of their knowledge in this area and that they will remain at the forefront of this debate over the years ahead.
Lord Patel
My Lords, I thank the Minister for his response. I quite understand that, at this early stage in their life, the new Government are unlikely to commit to major projects. I am, of course, disappointed by the fact that they will not take some things forward but, on the other hand, I am extremely encouraged that the Minister committed himself to look at other things further or to observe their progress, particularly through the strategy board. It is encouraging that the pathology service mentioned in the report by the noble Lord, Lord Carter of Coles, will be taken forward.
As far as information technology is concerned, I think that the Minister’s advisers will be proven wrong. We know what kind of biomedical information system we require. We also know that, if we have an adequate bioinformatics system, it will regenerate information that will be helpful not only for healthcare but for developing biomarkers.
On the whole, I thank the Minister. I know that he takes medical issues seriously and that he will do so in future. I thank all noble Lords who took part in this debate and I am gratified that so many did so. Finally, my noble friend Lord Winston should do more guest performances because he is rather good at them. I look forward to hearing him again.
Motion agreed.