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Health: Rare Diseases

Volume 760: debated on Tuesday 3 March 2015

Question for Short Debate

Asked by

To ask Her Majesty’s Government what action they are taking to improve access to treatments for patients with rare diseases.

My Lords, many rare diseases can be severe and life threatening, and the problem for patients unlucky enough to suffer from them is that there are few really effective treatments for most. So among the small number for whom a new treatment seems to hold out some promise, there is intense interest and renewed hope. Of course, it is reasonable that new treatments should be evaluated for their effectiveness and that they should be prioritised before they can be commissioned. But therein lies the rub—because, although these diseases each affect a small number of patients, there are more than 8,000 individual rare and ultra-rare diseases in existence. Although there are no treatments for most, more than 100 drugs licensed by the European Medicines Agency are awaiting approval for funding by NHS England, and many of them are very expensive.

It is not surprising that companies that develop such drugs for very small numbers of patients find it difficult to recoup their investment without a high charge; and it is hardly surprising that NHS England, which foots the bill for specialised services, is pretty cautious about what it can afford to pay. This budget is already overspent by £900,000. So we can no longer avoid recognising the dilemma of how to pay for these expensive drugs. My first question to the noble Earl is: what effort are the Government making to face up to this problem? We clearly now need to have the open discussion and thorough review that the topic deserves. The consultation exercise that NHS England is currently conducting is interesting but limited in scope, and the whole issue of affordability of expensive drugs is one that should be opened with the public by the Department of Health itself.

Leaving aside that issue for the moment, nothing can provide an excuse for the enormous delays in decisions being taken by the bureaucratic systems that we have set up. They are not only complex but so completely opaque that clinicians and the pharmaceutical industry despair, and the poor patients are completely bewildered and perplexed. I have spent a considerable amount of time trying to understand the ways in which these treatments are assessed, and here I have relied heavily on advice from the Rare Disease UK alliance, whose members represent a large number of patient groups.

The problems begin when anyone who is proposing that a new treatment should be centrally funded is faced with no fewer than seven possible routes to take. The first three are through NICE—although only one of these, the HST or highly specialised technology route, is really capable of assessing these types of treatment. The problem here is that the HST can manage to deal with only three proposals a year. It does not have the capacity to cope with more. It has, in fact, so far approved only one treatment—eculizumab, for atypical haemolytic uraemic syndrome—since it took over responsibility for rare disease treatments more than a year ago. Yet we know that the EMA is licensing many more new treatments for rare diseases, and that many of these, at least 10 a year, have to be redirected to NHS England itself. However, the rationale behind which three treatments NICE will take on itself and which it will hand on is clouded in mystery. Even worse, it seems that a few drugs have to go through an assessment by both organisations. Can the Minister say how NICE decides which treatments to examine itself and which to hand on—and, more importantly, why on earth we need two separate systems of appraisal? Would it not save a lot of time and money if we had one well resourced and efficient system?

Then we come to the remarkable apparatus set up by NHS England, where we also have several possible entry routes that I will not bore noble Lords with. The main route is through the clinical reference groups, of which there are 75, each assessing different types of potential treatments. Their views are then transmitted to one of five programme of care boards—and that is just the beginning. Approval is then sought from the clinical effectiveness team and the finance group, before the matter is sent on to the clinical priorities advisory group, which in turn passes it on to the specialised commissioning oversight group and the directly commissioned services committee. I hope that noble Lords are keeping up. If it gets through that lot, it is sent out for public consultation and, if approved, has to wait until the beginning of the next financial year for funding.

You can imagine the frustration and angst that all this creates among patient groups who feel alienated by the whole prolonged and tortuous process, which is made worse by the fact that the way in which these committees go about their business seems quite opaque. No minutes seem to be available, decisions are hard to come by and patient involvement is tangential to say the least. The noble Earl, in a response to my Written Question on 1 December, tried to reassure me that patients were involved in a number of advisory committees, but I have to tell him that many patient groups feel quite ostracised by the systems that have been set up. There are no less than seven serial committees, and a cynic might think that this complicated system has been devised to avoid having to make any funding decision. You might well think that; I couldn’t possibly comment.

As if that is not enough, the whole apparatus has now ground to a halt after a legal challenge to CPAG on behalf of a child with Morquio’s syndrome. No new treatments have been examined since December and there is no end in sight until at least next June. There is now a backlog of some 80 treatments awaiting a decision. Can the Minister say when we might expect this matter to be resolved?

With such a complicated system, it is little wonder that there are inconsistencies in the decisions that have been taken. For example, why has funding been agreed for patients with tuberous sclerosis who have brain tumours but not for those with kidney tumours that are equally life threatening? How come treatments have been approved for a very small and specific subgroup of patients with cystic fibrosis but not for a small specific subgroup of patients with gastrointestinal stromal tumours? The numbers affected are similar and the treatments equally effective for each of these rare subgroups, but there is no consistency in the decisions taken. Will the noble Earl press NHS England to rethink this problem of inconsistency?

On another issue, can the noble Earl say why the commissioning through evaluation system, set up in 2013, has apparently not yet approved any drugs brought to it—that is, zero drugs—despite having an available budget of some £16.9 million? Why has this innovative scheme not been activated?

Then there is the question of the high costs that drug companies have in developing new treatments for these very small markets. There is a need here for negotiation between government and industry on price—and there is clearly room for negotiation where industry could be asked to justify its high charges when it has such small patient groups to test and can avoid the very high costs of large-scale phase 3 trials. In practice I understand that companies find that, despite the price access scheme, it is extremely difficult to fix up a meeting even to begin negotiations. Can the noble Earl explain why there seems to be this reluctance to negotiate?

There is also a particular problem when a clinical trial of a new innovative treatment is coming to an end and patients are seen to be benefiting from it. Industry funds the trial but expects to be able to hand on the costs of continuing the treatment after a successful trial has finished. This area of negotiation is particularly fraught since many patients who have benefited are desperate to continue the treatment yet find themselves in limbo because of a reluctance to reach a decision on who pays. Can the Minister clarify what engagement the Government are having with companies and patients who find themselves in this position?

Finally, there is a mind-blowing system of committees and advisory groups set up in NHS England. Can all the CRGs, PoCs, CPAGs, SCOGs, DCSCs and RDAGs be justified? I doubt it. Is it not time for NHS England to get a grip and radically prune this morass of committees? Will it take advantage of its current consultation exercise to think again, and will it kick-start some interim measure to get past the logjam while it is cogitating? I hope that the noble Earl will exert some pressure on it to provide a simple, clear and transparent system of appraisal in a timely way that takes full account of patients’ views. We clearly do not have that now and it is desperately needed.

I return, finally, to my plea for a thorough and open inquiry into the ways in which it might be possible to cover the costs of expensive drugs for rare diseases in an equitable way. That is something that the department itself can hardly avoid tackling. I look forward to the noble Earl’s response.

My Lords, I warmly congratulate the noble Lord, Lord Turnberg, on securing this debate on a critically important subject and one in which I know he has taken a long-term interest. His comments are very much top-down; I am going to speak more from the bottom up. I think my noble friend Lord Howe has been quite an exceptional Health Minister, with a mixture of principle and pragmatism, and the UK Strategy for Rare Diseases is a remarkable document. It is a vision. It is not all in place in practice but the focus is on patient involvement, patient groups, empowering patients, ensuring patients are listened to, personal care plans, specialised clinical centres, education, training and research. These are the elements of where we hope to arrive.

I take two examples. In 1980, in my former professional life, I was incredibly proud to have an article printed in the Journal of Child Psychology and Psychiatry on the management of families with Huntington’s Chorea. It was a case study to illustrate some recommendations. With the psychiatrists at the Maudsley, where I worked, I had been working with a family affected by Huntington’s disease, as it is now called. They faced a very bleak future. There was little support and little identification. It is quite extraordinary the changes that have taken place over the years. Our basic thesis was that the children in a family always know if there is a secret and if you listen to them, they know what the problem is, and you have to talk to them about Huntington’s disease. Recently, the Huntington’s Disease Association, a magnificent patient group—of the kind that has developed in so many areas and quite remarkably in this country for so many conditions—has produced wonderful guidance about talking to children about Huntington’s disease.

On the MRC, we campaigned to get the human fertilisation legislation through. That was the first Bill that I handled as a Health Minister. Earlier this month, we heard that baby Amelia had been born, through IVF, free from Huntington’s disease. It is an incurable condition which parents have a 50% chance of handing on to their children. Therefore, that is an example of remarkable progress.

However, I want to draw my noble friend’s attention to a totally different condition: lymphangioleiomyomatosis —LAM. This is a wretched condition. Huntington’s disease affects 120 people in 1 million; LAM affects about seven in 1 million, so it is a very unusual condition. I want to talk about Amanda Simpson, a brave young woman from the Isle of Wight. She had chest problems and went to the hospital, where they told her that she had pigeon fancier’s disease, ME or emphysema. She was not happy. In fact, she was miserable because nobody had recognised her condition. Nobody knew what it was. She had two young children. Was it depression? Was it lethargy? However, she felt bad.

She then secured private funding to get a second opinion in Southampton and was referred to a centre in Nottingham, where LAM was identified. It is a pretty wretched chest condition creating cysts, which sometimes lead to non-malignant tumours on the kidney. The prognosis is poor. Fortunately, there is now a drug called sirolimus, which seems to address the problem. However, there are only 200 patients with this condition in the country, so Amanda has not had a care plan. LAM Action is a very small support group. I want to read from her comments. Having been referred to a specialist consultant from the Isle of Wight, she says:

“In a nutshell he told me I was a … hypochondriac and the problems were probably down to stress. I remember going home in tears feeling that no one believed me”.

After she went to the private specialist, she at last felt that she knew she had some reliable information. She continues:

“The next few days proved really challenging. I read up all I could and felt that in essence my world had come to an end. The prognosis wasn’t great and doing a self diagnosis on the internet threw up more questions than answers. I had extensive scarring of my lungs with cysts which were getting worse. My efficiency had fallen to nearly 40%, there was no known cure for the disease and I had two children under three. It all seemed so unfair. I had finally got my life on track and then this was thrown at me. The next six months proved really difficult. All the data I could get was not very helpful and there is a real shortage of any kind of support for”,

LAM. She goes on:

“The counsellors I did speak to seemed unable to grasp the situation and to all intensive purposes they were pretty useless”.

Finally, she was referred to Nottingham. I know of services provided at the Brompton hospital, the Heart Hospital and other specialist centres, but at Nottingham, with Professor Simon Johnson, professor of respiratory medicine, at last she had somebody who understood the whole subject. His wife, Jan, has set up LAM Action, creating a support group, and encouraging and promoting research. Amanda has been put on to the new drug, sirolimus, which only 30 people in the country are receiving, and it is having a beneficial effect on her. Even so, she has to get from the Isle of Wight to Nottingham, where she stays for three days at a time. There is no financial support. Now, her teeth are deteriorating, and she has to go to Winchester. Nobody understands all this.

In comparison, associated with cancer are Cancer Research UK, Macmillan Cancer Support and Marie Curie. People know and understand about cancer; they are sympathetic. Most people think that Amanda is a hypochondriac. They do not know what she is talking about and there is precious little sympathy or concern.

I want to make that contrast because of the change that I have seen in my lifetime in the approach to Huntington’s disease—its recognition and people’s understanding of it. There is a whole cohort of regional support advisers to help families and a very effective patient group recognised by the National Health Service. There is a clear pathway for this disease, and now there has even been a breakthrough with a family producing a child free of the affected gene. As the noble Lord said, there are 8,000 rare diseases, but I wanted to take this opportunity to identify the condition that had particularly come to my attention.

I want to say in passing that the new proposals for the tariff system and for the changes in commissioning for rare diseases need to be addressed in such a way that in time it will be possible for people suffering from LAM at least to get the recognition that is given to sufferers of some of the other more prevalent rare diseases.

My Lords, last week I had the privilege of attending a symposium, or reception, for what was called Rare Disease Day, sponsored by the International Rare Diseases Research Consortium and various other bodies. The Minister made a useful and helpful contribution, as indeed did a member of the staff of NHS England.

As the noble Lord, Lord Turnberg, to whom I am very grateful for introducing this debate, said, several thousand rare diseases have now been identified. These are of varying degrees in that some are fatal, some are progressive and some very much less so, but there is clear evidence that new forms of treatment are beginning to emerge for many of them, not least for the many inherited rare diseases, many of which are due to single genes. The gene has been located, the missing or abnormal gene product has been isolated, and effective drugs are now coming on stream to overcome the problems. The drugs for the very rare conditions are called ultra-orphan drugs, whereas drugs for conditions affecting 1,000 or more patients are called orphan drugs. It is clear that, although some of them are life-saving, others have produced an improvement but not, as yet, a cure. I pay tribute to the industry for the excellent work that has been carried out to develop these drugs, which is continuing to expand at a very important and interesting rate. I have often said that today’s discovery in basic medical science brings tomorrow’s practical development in patient care, and there is no more obvious example than the case of many rare diseases.

Many of the drugs are extremely costly, because the benefit to patients is relatively small and the number of patients who benefit is, again, very small—hence in many instances they are not commercially viable. Quite a few of these drugs have been licensed. Examples come particularly from the Cancer Drugs Fund, but that fund of £360 million is now running out of money and under threat of being closed. When, a couple of months ago, I said to the Government how important it was that they should create a rare disease drugs fund, this was not looked upon with any great favour because the Cancer Drugs Fund is not now managing to handle the needs of many patients with cancer.

There are excellent examples of drugs for rare diseases. A drug called eculizumab is a cure for haemolytic uraemic syndrome, but it has to be continued almost indefinitely, at a cost of £100,000 per patient per year. As the noble Lord, Lord Turnberg, mentioned, for other conditions such as tuberous sclerosis, which causes brain tumours, and the rare condition called lysosomal acid lipase deficiency, which causes severe liver disease, drugs are now available. But they are not at the moment becoming prescribable under the NHS.

My own field of research is muscular dystrophy, and I declare an interest as life president of Muscular Dystrophy UK. About 10% to 15% of cases of the serious progressive paralysing disease Duchenne muscular dystrophy are due to a nonsense mutation where a single letter of the DNA places a stop signal in the middle of a gene. The drug encourages cells to ignore this, and the signal therefore allows the dystrophin protein to be restored in the muscle, which produces clinical improvement. Clinical trials in Newcastle have shown significant improvement in the walking capacity of boys receiving the drug. A new generation of drugs called exon-skipping drugs are being developed that produce a molecular patch over deletions in the gene. Clinical trials were very effective in Newcastle and the results were helpful, but the drug, although licensed, is not currently prescribable under the NHS because it is going through what is called a draft clinical commissioning policy. That means that these boys, whose walking was improving, are now finding that they are again deteriorating because they are no longer in a position to receive the drug.

As the noble Lord, Lord Turnberg, made clear, the bodies in the NHS are extremely complex. NICE, the National Institute for Health and Care Excellence, has a specialised technology assessment, a single technology assessment and a multiple technology assessment. There is also specialised commissioning under NHS England and a Rare Diseases Advisory Group advising NHS England. As yet, I am finding it extremely difficult to find out what that Rare Diseases Advisory Group is doing and I cannot get hold of any of its reports. This is an extremely complex problem because the cost of these drugs will be huge. Patients’ charities and patient groups are small but are collectively becoming increasingly vocal and concerned about the problem of finding the appropriate treatment for these diseases. I have said that the patients are relatively few but, collectively, they are huge in numerical terms, and it is not possible in my opinion to assess human suffering in purely numerical terms. We need from the Government greater clarity on how the drugs for these rare diseases can be produced.

I have to express serious concern for the future. The next Government will be faced with a huge dilemma because drugs are coming on stream at such a rate that it is perfectly clear that the present mechanisms available in the NHS will not be able to fund the treatment necessary for these diseases. I wonder whether it is not time, as the noble Lord, Lord Turnberg, said, to have a major review of the funding issue. I would love to see a mechanism whereby the Association of Medical Research Charities, the Specialised Healthcare Alliance and other bodies in this field might embark on a massive fundraising programme to support the availability of these drugs.

If only we could find a donor like Bill Gates, who has given so much to the management of malaria. I was even thinking of the second wealthiest person in the United States, Christy Walton, the widow of John Walton—no relation, I am sad to say—who was at Walmart. Can we not find someone to take on board the funding of the drugs—a very major effort? It might temporarily reduce the money available for research, but the important thing is that the research will not be translated into treatment unless we have funding for the treatments that result from that research. A major new initiative along those lines will be needed.

My Lords, I acknowledge at the outset that the two matters I am mainly going to speak about tonight are not drug treatments for rare diseases, but they are certainly treatments in the wider sense of that word. I, too, am very grateful to the noble Lord, Lord Turnberg, for asking this Question, which can never be asked too often. I am also very pleased that the noble Lord, Lord Walton of Detchant, spoke about the new drugs coming on to the market for some Duchenne muscular dystrophies. I should at this point declare an interest as I have a rare disease. The two matters that I wish to raise are cough assist machines and hydrotherapy.

Last week, Muscular Dystrophy UK published a new report called Right to Breathe, highlighting the vital need for access to specialist respiratory care for people with muscle-wasting conditions. The report found that respiratory infections have been a primary factor in deaths for certain muscle-wasting conditions with, shockingly, a third of families being repeatedly turned down for equipment by local NHS commissioners, even when it has been requested by consultants or specialist physiotherapists.

Each cough assist machine costs in the region of £5,000, which is equivalent to a 48-hour stay in an intensive care unit. They are considered to be of vital importance by respiratory specialists and are routinely used during hospital stays for patients. An example of what can happen is the case of Freddie Kemp, who had Duchenne muscular dystrophy. He was turned down by his local NHS for a cough assist machine, which would have helped keep his lungs clear. Tragically, in November he died, weeks after leaving hospital following a serious chest infection. This essential piece of equipment may not be a treatment in the way that a new drug is, but it can still save lives. What assurances can my noble friend give that people with muscle-wasting conditions who require a cough assist machine will be provided with one by their clinical commissioning group? This matter of spending a relatively small amount of money on the right equipment for vulnerable people in order to save an expensive hospital stay later on crops up time and again. Surely, something should be done to point this out to CCGs.

Hydrotherapy is a highly effective form of therapeutic exercise in a warm water pool for people with muscle-wasting conditions. For many, particularly boys with Duchenne or anyone with serious mobility problems, it is the only exercise they might be able to manage. The benefits are perhaps obvious, but I will spell them out. The first include a sense of freedom from the confines of a wheelchair, a greater range of movement with the relaxation that very warm water gives and, very often, the alleviation of pain. Secondly, the psychological effect on a person’s well-being should not be overlooked. Perhaps the provision of hydrotherapy should be partly assigned to the mental health budget because of its effect on a patient’s sense of well-being. One young woman with congenital muscular dystrophy told the all-party group some time ago that she felt much better for days after a hydrotherapy session.

However, accessing hydrotherapy is ridiculously hard. If a local hospital does have a pool—many have closed or are in danger of closing in order to save money—patients are told that they are entitled only to a block of six sessions. If you have a progressive condition and this is the best way of keeping you well, a block of six sessions gets you only so far. It is fine for a broken leg, but those of us with progressive conditions will never have what is called “an outcome”. It is not easy to measure the effect of hydrotherapy on those with progressive conditions, but we all know that it is good for us. A study into the provision of these pools in the south-west of England a few years ago by Khurm Arshad, whose brother Auzair has Duchenne muscular dystrophy, found that there were more hydrotherapy pools for horses than for people. Muscular Dystrophy UK is undertaking an audit into hydrotherapy provision for people with muscle-wasting conditions across the country. Will my noble friend encourage the NHS to work in partnership with Muscular Dystrophy UK to compile this audit in order to improve access to hydrotherapy pools?

Muscular Dystrophy UK’s Fast Forward campaign is looking at potential new drug treatments, in particular to ensure that cutting-edge, high-cost potential treatments are not being held up due to lack of funding. That will be the leitmotiv throughout this debate this evening. I am sure that I know the answer to this, but I must just ask whether there are any plans to re-establish a ring-fenced fund for rare disease drugs.

My Lords, I would also like to thank the noble Lord, Lord Turnberg, whom I congratulate on initiating this interesting and important debate. Immune thrombocytopenia, or ITP as it is commonly known, is a bleeding disorder affecting both adults and children and is seen in between one and four in 100,000 of the population. It is a rare condition and I am one of that rarity. I am conscious that members of the medical profession present this evening will have knowledge of what I am about to say, but it is nevertheless important that we have on record the concerns of ITP patients and their families.

This disease is known as an autoimmune disorder because the body’s immune system targets itself. It leads to a reduction in the elements of the blood, called platelets, which are responsible for making the blood clot. When their numbers fall, there is an increased risk of bleeding which may, in the most severely affected patients, be spontaneous, difficult to control and life-threatening. The impact on patients’ lives can be profound. Extensive bruising can be quite socially isolating, particularly in the summer months when one cannot cover up. Active bleeding from the nose, into the gut or as heavy periods can be distressing and may lead to anaemia and the problems which that can cause. At the very lowest levels of platelets there is always a risk of bleeding into the brain, which may be fatal for many.

Some 11 months ago I retired to bed perfectly normally to wake up, the next morning, in a bed with pillows and sheets covered in blood and bleeding from my nose and mouth. I was admitted to hospital and on examination I had a platelet count of two. It was somewhat distressing and I pay tribute to Dr Benson and his team at the Belfast City Hospital for the care and treatment they gave me over my eight days in hospital and to Dr Paul Grimes, our resident medical practitioner, and Professor Adrian Newland for their explanations, which helped me to understand my condition.

Patients with a severe disease live permanently with the risk of a major, life-threatening event. However, even those with moderate forms of this disease are not free; they have many risks. We are told not to play contact sports; advised not to fall down and hit our heads; advised not to have a car crash. I am afraid I did not heed the last one. Coming out of hospital, my wife took me to Sicily to recuperate. We spent the first two days beside the pool and it was wonderful. On the third day, I hired a car. On the fourth day, I wrote off three cars and ended up in hospital in Palermo. Up to one-third of patients will also complain of crippling fatigue as part of their disease process, which again impacts on their day-to-day life.

In the majority of patients there is no known cause that can be treated and, in general, treatment has been aimed at reducing the rate at which the platelets are destroyed by the antibodies produced as part of the autoimmune process. Traditionally, treatment has relied on the use of steroids to dampen down the immune process. These have well recognised side-effects causing mood change and weight gain: I gained 20% of my body weight while I had this. There are other side-effects: diabetes, osteoporosis, cataracts and an increased risk of infection. Patients tolerate but rarely like taking these steroids. For those many who fail to respond to this initial approach, further treatment options have in the past been fairly limited, involving either major surgery to remove the spleen, which in many patients is where the platelets are destroyed, or using drugs to suppress the immunity. These latter are the same drugs as those used to treat cancer, with the known problems that they can cause. Both these approaches increase the risk of serious infection and we know that as many patients may die of infection as a consequence of the treatment as from the bleeding caused by the condition.

Over the last 10 years, doctors have come to learn much more about the background of the disease and are developing treatments that are much more targeted and without the general side-effects I have mentioned. A particularly successful recent development has been the introduction of a class of drugs known as thrombopoietins. These are hormones that stimulate the body to produce more platelets, mimicking the body’s own natural process. They have been shown to be successful in over 90% of patients who have been given them, without the impact on infection seen with other more traditional therapies. In addition, up to a third of patients appear to be able to stop treatment eventually, while maintaining a normal platelet count, which is a major bonus. However, there are two drugs available in this class and both have been reviewed by NICE. Although it has recommended them, it has placed significant limitations on the use of the drugs, which have been open to differing interpretations by commissioners around the country. While some have been very open in allowing usage for patients in need, others have expected patients to go through, and fail, the conventional options before being given this new treatment. This is purely for financial reasons. It exposes patients to unnecessary risk and has led to a postcode lottery of prescribing of the worst kind. These drugs are only the start of a number of existing agents currently being developed to target the specific underlying abnormality in the immune system. They will benefit patients with not only ITP, but other similar autoimmune diseases.

Like many rare conditions, ITP is not an obvious target for research funding. This has hampered both basic research into the condition and clinical studies to investigate treatments. It has fallen to the pharmaceutical industry and groups such as the ITP Support Association to support this crucial work. Here I declare an interest as a member of the association. I shall finish by saying that we would like to see more support from the NHS and the national research funding bodies being channelled into research on rare diseases which, although small in number, can have a devastating effect on many people’s lives.

My Lords, it is nice to see the noble Lord, Lord Rogan, looking so well. The thought that he might have a platelet count of two, which I have never come across, surprises me. I am pleased that his treatment is working. I thank the noble Lord, Lord Turnberg, for initiating this debate. Listening to him and to the comments made by the noble Lord, Lord Walton of Detchant, it is clear that the system of funding for treatments is not working and neither are the services that are being delivered, as has just been highlighted by the noble Lord, Lord Rogan, in his words about postcode lotteries. I shall focus in my remarks on the need for greater collaboration and cohesion in the planning and management of services for the rarest conditions—the extremely rare diseases.

With greater national collaboration, treatments for rare diseases can be taken up more quickly, with swifter patient access. Over the past two days I have met many members of the Specialised Healthcare Alliance. As a coalition of more than 100 patient-related organisations and 15 companies, the alliance has been campaigning on this issue for a number of years and has clear priorities for improvements to benefit patients. Collaboration is extremely important for these services. We know that very rare diseases affect only a small number of patients who may well be living in any part of the United Kingdom. Services for these patients cannot sensibly be available in every local hospital. Highly specialised services that typically cater for fewer than 500 patients in England can be provided in only a small number of hospitals across the country, partly due to the sophisticated expertise involved in delivering those services. I am familiar with the work undertaken in my own hospital where very complex dermatological testing is conducted on patients from across the UK. It is a member of the UK Genetic Testing Network. Indeed, networking arrangements of this kind are a vital component of highly specialised care delivery. It is therefore crucial to strengthen networking arrangements of all types, be they between specialist centres as in the UK Genetic Testing Network or between specialised centres and local hospitals based closer to where patients with rare conditions live.

The complex mix of highly specialised care delivery I have described requires sophisticated planning and oversight on the part of commissioners. It is in this area that concerns have been raised. Many are aware of the good work that was undertaken by the Advisory Group for National Specialised Services. Prior to 2013, it developed multidisciplinary expert advice on highly specialised services. The work of AGNSS and the national specialised commissioning team which it advised covered many areas of service delivery and management. It reviewed potential service developments and brought in specialist expertise to consider whether they should be prioritised for funding. The expertise included input from expert clinicians, patient representatives, health economists, health ethicists, commissioners and others. This function has now passed to NHS England. However, apart from a weakened advisory group for these services, all decision-making takes place within the context of specialised services as a whole. This means that services for the smallest patient populations can be competing for resources with very large services. There are also concerns that the expertise formerly vested in AGNSS is not present within these new decision-making processes.

AGNSS also appraised new treatments for rare diseases, many of which are inextricably linked with the associated services. Again, it brought a variety of expertise to bear, as well as an appreciation of the different paradigm for appraising those treatments, which often cannot produce the kind of randomised control trial evidence that is seen for more common therapies due to the small number of patients who are involved. This function has now been passed to NICE, which has been asked to develop a bespoke, highly specialised technologies appraisal process and methodology. While NICE’s rigour in appraising medicines is not in doubt, its ability to run two separate processes with vastly different QALY thresholds may present a challenge. It is also crucial that NICE should collaborate extremely closely with NHS England, given the strong links between treatments and services for the rarest conditions.

Also, the national specialised commissioning team used to commission the providers of highly specialised services directly. This meant that a single national team oversaw delivery and assured quality across the country. Should one provider experience problems, the national team would be aware of it and could liaise with other centres to ensure that they responded accordingly. Now the function is spread across a number of different teams all around the country without any clear national leadership. This involves greater complexity and, most importantly, introduces more clinical risk for these services. NHS England’s ability to evaluate the outcomes of its commissioning, including the outcomes arising from new treatments for rare diseases, would also be strengthened if this was rectified. Greater cohesion in the appraisal, planning and delivery of services for patients with rare diseases is crucial. I hope the Minister will be able to provide some specific assurances on each of the functions that I have outlined above.

The noble Lord, Lord Turnberg, referred to the problem of access to medicine. As the noble Lord, Lord Walton, referred to, there are seven routes through which licensed medicines for rare conditions can be evaluated. NICE’s topic selection criteria do not currently recognise conditions defined by genetics, biomarkers or a difference in clinical presentation. This means that the full range of medicine that could benefit patients with rare conditions is ineligible for HST evaluation. Let me give you an example. Ivacaftor, or Kalydeco, is a medicine developed to treat 5% of cystic fibrosis patients and their specific genetic mutation. NICE’s current criteria mean that it would not be available to patients.

My Lords, my name was inadvertently missed off the list, so I am going to speak in the gap. I will give the noble Earl his full 12 minutes. Perhaps I may put two points to him.

First, will the noble Earl agree to my noble friend’s recommendation that the Ministers institute a thorough review? I stress that this should be done by Ministers. NHS England has shown itself incapable of doing the job properly. Ministers are much more accountable and much more aware of the rare disease issue and I really do think they need to take charge.

Secondly, in the new agreement with the drug industry, any increase in the cost of drugs over five years is being met by the industry through rebates. Why on earth are those rebates not being used to fund innovative new drugs for rare diseases? Can it just be that the NHS is under such financial pressure that this money has had to be raided, when it should have been used for innovative new drugs?

My Lords, I congratulate the noble Lord, Lord Turnberg, on securing the debate and raising this issue. I am acutely aware that access to treatments for patients with a rare disease is of great importance to him and many others. We have had some excellent contributions from noble Lords this evening.

The Government are committed to improving the life of all those affected by rare disease. The UK is a recognised leader in research, treatment and care for rare diseases. We are at the forefront of the genomics revolution, which has the potential to radically transform the way that we diagnose and treat people with rare conditions. The UK strategy for rare diseases, which my noble friend Lady Bottomley kindly mentioned, is a high-level framework that sets out our strategic vision. I am sure she will know that raising awareness of rare diseases is a key aim of the strategy. To that end, the department has worked with Health Education England to produce two videos: one aimed at parents and patients, the other aimed at healthcare professionals, particularly GPs. These were launched last week at the Rare Disease Day event, which the noble Lord, Lord Walton, referred to.

I was interested to hear about lymphangioleiomyomatosis, or LAM. Access to treatment for that condition, as for others, is based strictly on clinical need, as set out in NHS England’s published clinical policies, irrespective of tariff arrangements. The key in so many cases such as this is what is often referred to as the diagnostic odyssey—the delay that patients experience before getting a diagnosis.

I listened with huge interest to the noble Lord, Lord Rogan, talking about ITP. The UK Strategy for Rare Diseases sets out our strategic vision for improving the lives of all those affected by rare diseases, including ITP, the autoimmune disease. He will be impressed to know that my officials furnished me with an extensive note on ITP as he was speaking.

NHS England has been charged with taking forward many of the strategy’s commitments and in the Five Year Forward View it sets out a contextual backdrop for the strategic work during the next few years. Due to their rarity and their low patient populations, services for rare conditions in England are directly commissioned nationally by NHS England as specialised services. I am sure that the noble Lord, Lord Patel, will agree that commissioning these services nationally means that NHS England can commission each service to a single national standard with single national access criteria. It ensures that patients have the same access to specialised services regardless of where they live in England. NHS England has made significant progress in developing a set of nationally consistent service specifications and commissioning policies which ensure equity of access to high-quality services across the country.

Since April 2013, the National Institute for Health and Care Excellence, or NICE, has been responsible for the evaluation of selected high-cost, low-volume drugs under its highly specialised technologies programme, as has been mentioned. This plays an important role in ensuring that commissioning decisions are based on a robust and thorough assessment of the available evidence. NHS commissioners are legally required to fund treatments recommended by NICE in its highly specialised technologies guidance. Until NICE’s guidance is available, commissioners make their funding decisions based on the available evidence.

Topics are referred to that programme by Ministers, following a topic selection process that is overseen by NICE. At the core of the topic selection process is a set of prioritisation criteria that are used to determine whether a topic is suitable. These criteria are published on NICE’s website. The process for deciding which topics to refer to NICE is carried out with as much transparency as possible and includes consultation with stakeholders once a topic has passed the early stages of the process. However, it must be recognised that some degree of confidentiality is required, particularly early on in the process, as information on new drugs can be commercially sensitive before they are licensed. The noble Lord, Lord Turnberg, might be interested to know—as he was asking me about this—that NICE has recently taken steps to improve the level of transparency in the topic selection process, and has begun to publish more detailed information about the rationale for its topic selection decisions.

NHS England’s Clinical Priorities Advisory Group formulates recommendations on commissioning of new treatments for rare diseases in England. In order to ensure that the maximum number of patients benefit from innovative treatments coming on stream, hard choices need to be made about which of these to fund routinely. Patient groups asked NHS England to consult on changes to the principles and processes by which it makes these decisions. At its board meeting on 17 December, NHS England decided that a 90-day consultation would be carried out on the prioritisation framework and decision-making process that NHS England should use to make commissioning decisions on new treatments and interventions. The length of that consultation period reflects the importance of these decisions and the advice received from patient groups. The decisions on prioritisation will not be completed until the consultation has closed and the responses have had due consideration. The consultation was launched on 27 January, and it is open for responses until 27 April.

In carrying out its public consultation, NHS England will ensure that the principles and processes for making these decisions are well informed, evidence-led and in line with the expectations of patients and the public. I am sure that the noble Lord, Lord Turnberg, will agree that it is important that NHS England has a robust decision-making process in place and that that process must be followed to ensure that NHS England is treating all patients with rare diseases fairly.

I just wanted to check that the Minister is aware that there are no fewer than seven serial committees that it has to go through. That does not seem very efficient.

I note that point, my Lords, and I will reflect carefully on it. If NHS England has a comment to make, I shall be glad to write to the noble Lord about that process.

Clearly, once the prioritisation consultation finishes, and in the light of NICE assessments, NHS England will take stock of its position in relation to new treatments.

Our priority must always be to ensure that patients with rare conditions have access to new and effective treatments on terms that represent value to the NHS and the taxpayer. I am sure noble Lords will agree that it is very important that NHS England has a robust decision-making process in place and that, as I have described, it makes sure that all patients with rare diseases are treated equitably.

I also recognise that it is vital that we speed up the discovery, design and take-up of new, innovative 21st-century medicines and treatments in the NHS. We will continue to work with industry and our European partners to increase access to these innovative medicines for patients with rare conditions. In April last year, we launched the early access to medicines scheme, which aims to give patients with life-threatening or seriously debilitating conditions access to medicines that do not yet have a marketing authorisation, or licence, when there is a clear, unmet medical need. More generally, our Strategy for UK Life Sciences sets out an ambitious, long-term programme of action to improve the wider environment for health life-sciences companies and overcome the barriers that prevent discoveries being translated into commercial opportunities and new treatments with real benefits for patients.

The noble Lord, Lord Rogan, stressed the importance of research. Undertaking research into rare diseases requires effective partnerships between patients, their families, clinicians, researchers and industry. Of course, health research holds the promise for breakthroughs and improvements in the way that we diagnose and treat people with rare diseases. For example, the NIHR’s world-class Rare Diseases Translational Research Collaboration, launched in parallel with the UK rare diseases strategy, is just about to start 14 new projects. We also want to make it faster to start rare disease research in the NHS. That is why we asked the Health Research Authority to bring in a new single approvals process. This will speed up access for patients to new and effective treatments.

I will cover as many questions as I can in the time available. My noble friend Lady Thomas referred, very powerfully, to the value of hydrotherapy and the importance of appropriate equipment being commissioned by CCGs. As she will know, CCGs are autonomous statutory bodies. Decisions are made locally but I am happy to look into the matters she raised and will write to her on what I fully agree is a very important issue.

The noble Lord, Lord Patel, asked about the successor arrangements to AGNSS. Responsibility for evaluating the use of new and existing highly specialised medicines and treatments within the NHS in England transferred from the Advisory Group for National Specialised Services—AGNSS—to the National Institute for Health and Care Excellence in April 2013. So far, that is working satisfactorily. However, there is the other group—the Rare Diseases Advisory Group—which was referred to by the noble Lord, Lord Walton. Where does that fit it? In terms of rare diseases and highly specialised services, the RDAG makes recommendations to NHS England and the devolved Administrations on issues related to highly specialised services. Its further role is to have an overview across the four countries on the development and implementation of the UK strategy for rare diseases and highly specialised services. It makes recommendations to the Clinical Priorities Advisory Group about how highly specialised services should be commissioned.

The noble Lord mentioned the cancer drugs fund, which has helped more than 60,000 people with cancer to get life-extending drugs that would not otherwise have been available to them. NHS England is now responsible for the operational management of the fund. It is currently working to ensure the very latest, most clinically effective drugs can be made available to patients. We will carefully consider with NHS England what arrangements should be put in place for the fund in the longer term.

The noble Lord, Lord Turnberg, questioned the inconsistency in funding arrangements for different conditions. He mentioned tuberous sclerosis and kidney tumours. Over the next few weeks, the six programmes of care responsible for advising NHS England on specialised services will draw up the work programme for 2015-16, which will include developing a number of policies. Two policies—one for the provision of everolimus for tuberous sclerosis complex-related renal angiomyolipoma and the other for subependymal giant cell astrocytoma or SEGA—will be considered for inclusion in this process.

The noble Lord asked about commissioning through evaluation. That programme was established by NHS England in 2013 as an innovative mechanism to capture further evaluative data and I will write to him further about progress on that front. As regards negotiation on patient access schemes, companies that are members of the pharmaceutical price regulation scheme have the opportunity to propose a patient access scheme to improve the cost effectiveness of their drug, as part of a NICE appraisal. Departmental officials stand ready to meet with any company that wishes to discuss its options.

Time has run out. I conclude by saying that I am committed—indeed, the Government are committed—to ensuring that patients with rare conditions get the same quality, safety and efficacy in medicines and other treatments as those who have more common conditions.