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Rare Diseases Strategy

Volume 624: debated on Tuesday 28 March 2017

I beg to move,

That this House has considered implementing the UK Strategy for Rare Diseases.

It is a pleasure to serve under your chairmanship, Mr Pritchard. Since taking over as chairman of the all-party parliamentary group on rare, genetic and undiagnosed conditions in 2015, I have had the great privilege of meeting and helping patients, children and their parents and families. To explain the enormity of the situation, one in 17 people will be affected by a rare disease at some point in their life. That equates to approximately 3.5 million people in the UK. There are currently between 6,000 and 8,000 rare diseases that have been identified, with patients affected at all ages. However, for those who have a known rare disease, the picture is slightly better than for those whose disease is not known. Many children and adults who I have met do not have a diagnosis. That is both deeply distressing and prevents adequate care from being provided fully. It results in a wide range of issues for patients and parents, who are often desperate to find the answers. Despite the scale of the issue, unfortunately a significant proportion of people with a rare, genetic or undiagnosed condition still do not have access to adequate care and treatment.

Given the enormity of the problem, the Government published their rare diseases strategy in 2013. It was heralded by the rare diseases and medical communities as a major breakthrough. While symptoms vary from condition to condition, there are a number of issues that patients and families affected by rare diseases face collectively—for example, the difficulties associated with accessing a timely and accurate diagnosis and the appropriate co-ordination of care. The publication of “The UK Strategy for Rare Diseases” should have heralded a new era of treatment and care for rare diseases patients in England, Scotland, Wales and Northern Ireland. Containing 51 commitments, the strategy aims to ensure that health and social care systems across the nations provide those living with rare conditions with the highest quality of evidence-based care and treatment, regardless of where they live in the UK.

I thank the hon. Gentleman for bringing this important issue to Westminster Hall for consideration. There are some 60 different types of muscular dystrophy, and 1,000 children and adults for every 1 million of the population are affected—70,000 people are affected by a muscle-wasting condition in the UK. Does he share my concern that our current strategy helps those who live a life of suffering because of those terrible diseases, and does he believe that we are offering the best, or enough, support to their carers at this time?

The hon. Gentleman and I have discussed rare diseases many times in this Chamber. I pay tribute to his work and that of his party on pushing this agenda in Northern Ireland; that also has implications for England. I agree with what he said and I will come on to evidence given to the all-party group—he mentioned a range of different things—including that of Muscular Dystrophy UK. I hope hon. Members find that report and the evidence that we refer to beneficial.

Without wishing to go into too much detail about the 51 recommendations, given the limited time that we have, the UK strategy aims to

“ensure no one gets left behind just because they have a rare disease”.

Features include setting a personal care plan for every patient, bringing together health and social care services; ensuring that patients, their families and carers have the information that they need and are listened to and consulted; and improving diagnosis and intervention and strengthening research to improve personalised approaches to healthcare for those with a rare disease.

The four countries in the UK were given a deadline of 2020 to implement the commitments. Although the Health Departments in the devolved nations have all published country-specific implementation plans to reflect their respective health services, structures and priorities, the Department of Health in England has not yet co-ordinated a plan for England.

At this point, I want to pause to thank all the charities and organisations across the country—including the Centre for Rare Diseases in Birmingham, the Birmingham children’s hospital, Lupus UK and Muscular Dystrophy UK—that have not only submitted evidence to our report, but done so in advance of this debate. Although I cannot name a million and one organisations, given the limited time, I—and, I think, the whole Chamber—wish to thank them for all their work on helping patients with rare, genetic and undiagnosed conditions.

As has been referred to, between October 2016 and January 2017, the all-party group on rare, genetic and undiagnosed conditions conducted an inquiry into the implementation of the UK strategy for rare diseases in England. It held three hearings with the Department of Health and its arm’s length bodies. More than 300 patients, family members, patient organisations, clinicians and industry representatives also submitted evidence. I thank all those who did so and all colleagues who took part in the evidence sessions, which were very interesting. Overall, the findings were that the strategy is working well and being implemented effectively in some areas. However, where the strategy is failing to be implemented, the problems it was designed to fix are in some cases getting worse or, at best, failing to get better. I will detail the findings of our report and ask the Minister a number of questions.

I was pleased with the response to a question I asked during Health questions last Tuesday. The Under-Secretary of State for Health, my hon. Friend the Member for Oxford West and Abingdon (Nicola Blackwood)—she is sadly unavailable for this debate, but I thank the Minister here today for stepping in at short notice—said that

“the UK strategy for rare diseases needs to be translated into an implementation plan”.—[Official Report, 21 March 2016; Vol. 623, c. 772.]

She also said that that was one of her prime commitments, and I was pleased to hear that from her at the Dispatch Box. However, the evidence we received for the report suggested that the Department of Health does not intend to develop an implementation plan and believes that NHS England should assume responsibility for doing that, so will the Minister confirm who will introduce the implementation plan, as promised last week?

NHS England also suggested in evidence that it does not intend to develop an implementation plan and has neither the remit nor the capacity to influence all 51 commitments in the strategy. Given that evidence, will the Minister commit to finding a way either for the Department of Health to deliver that agenda or for NHS England to be given direction to do so?

I thank the hon. Gentleman for being gracious in giving way. He will be aware of the neuromuscular complex care centre that was set up in Queen Square in London in September 2014. Will he encourage the Minister to visit that centre to see the benefits of co-ordinated, specialist, multidisciplinary care delivery that could be replicated across the United Kingdom of Great Britain and Northern Ireland?

I am sure that the Minister heard that and will pass it on to the Under-Secretary of State for Health, my hon. Friend the Member for Oxford West and Abingdon.

We also saw evidence of poor communication between the organisations responsible for implementing individual commitments and other stakeholders involved in the strategy. What plans does the Minister have to better co-ordinate that communication? Many patients do not have access to the appropriate treatment or information about their condition, and the barriers to accessing information about a condition begin as soon as a diagnosis is made. Unfortunately, that leads to patient care continuing to be poorly co-ordinated.

I know that the Minister is a superb champion for those with rare diseases, and given the rare condition that the Under-Secretary of State for Health, my hon. Friend the Member for Oxford West and Abingdon, has, I hope that he provides more information about the Government’s commitment from last week. Hopefully they can commit to the Department of Health developing a comprehensive implementation plan that describes actions for its arm’s length bodies in particular. An implementation plan would offer direction to bodies involved in rare disease patients’ care, so that they can take action to improve the services that patients need. It would help patients to understand what progress is being made and to ask the right questions when it is not. It would also help to ensure that the needs of rare disease patients and their families are considered in decisions about patient care and access to treatments taken by bodies involved in the strategy.

I congratulate the hon. Gentleman on securing this important debate. I welcome the recommendations in the strategy, although I am concerned that the recent announcement on capping NHS drug prices will influence implementation. Muscular Dystrophy UK has said that it would have a major impact on drugs for muscular dystrophy and other rare diseases. Newcastle is fortunate enough to be home to the John Walton Muscular Dystrophy Research Centre, but support could be improved further by providing specialist psychological support for people with muscle-wasting conditions. Does the hon. Gentleman agree that such support needs to be an integrated part of service provision for muscular dystrophy and other rare diseases?

I am really pleased that the hon. Lady raised that point, and I again pay tribute to the work done by Muscular Dystrophy UK to support patients. A key recommendation from our inquiry addressed the fact that part of the rare diseases strategy suggests that we should look at things on a much more integrated level. Patients are not just the medical condition that is attributed to them; they are also an entire person, who is part of a collective family. The rare diseases strategy has implications not just for those individuals, but for their families, carers and so on, across the board. We have seen a number of instances where the rare diseases strategy is simply not doing what it should have been doing, so I hope that in the Minister’s summation he will address taking a holistic approach, rather than just looking at the individual.

Further recommendations in the APPG report include that NHS England should be more proactive in implementing the commitments it can influence and dedicate more resources to improving the co-ordination of care, as the hon. Member for Newcastle upon Tyne Central (Chi Onwurah) said. It recommended that the Department of Health should improve its processes to both engage and communicate with stakeholders in the strategy. It also recommended that the Department of Health and the UK National Screening Committee should work together to establish robust programmes for identifying and preventing rare diseases, and that training for frontline medical staff on rare diseases and their impact on patients should become widely available and incentivised. The APPG is very much encouraged by the number of programmes that have been developed in response to the strategy that complement its aims, such as the 100,000 Genomes Project. Those programmes are amazing in themselves; none the less, those developments should not necessarily be considered as actions resulting from the UK strategy for rare diseases.

The time to act is now. I am sure that the Minister can guess my final point, which is about the changes to the National Institute for Health and Care Excellence’s highly specialised technologies programme. Commitment 13 of the strategy—lucky for some—is to ensure

“that there are appropriate procedures for evaluating the costs and benefits of treatments for patients.”

NICE’s recent decision to implement an upper funding threshold for its HST programme, made despite widespread condemnation from the rare diseases community, conflicts with that aim. The upper limit will vary according to the lifelong impact of the technology on the patient, varying from £100,000 per quality-adjusted life year for treatments that deliver less than 10 QALYs to the patient in their lifetime, up to a maximum of £300,000 for treatments that deliver more than 30 additional QALYs to the patient in their lifetime.

Unfortunately, the programme has been beset by delays. Only four medicines for the treatment of rare diseases have been evaluated since the HST programme began, averaging just one a year, despite a capacity for three treatments a year. The four medicines evaluated to date have been shown to bring tremendous value to the patients eligible to receive them. They are life-saving, life-lengthening treatments with the potential to lift the burden on whole families of a rare genetic condition.

I thank the hon. Gentleman for securing this debate and for his leadership on the issue. On that particular point, does he agree that, as well as being a kick in the teeth for the rare and ultra-rare disease community—families, medical staff and charities—the plans make no sense? They have no bearing on the effectiveness of the drugs, which surely should be the basis for decisions, and they threaten new drugs that could change and save people’s lives, as well as some of the drugs that we joined families, medical staff and campaigners to get in the first place.

I thank the hon. Gentleman for his intervention and pay tribute to him for his work on rare diseases over the years. One of the first events I ever went to in Parliament was on rare diseases and was hosted by him. I could not have put it better myself. I will come later to my view that the issue needs to be thought about in a more timely way, potentially in a consultation and through some sort of implementation plan, which has been missing. It will impact not just people with muscular dystrophy, for example, but all those with the different conditions that he has championed in the past.

The four medicines evaluated to date have shown tremendous benefits to patients, and are life-saving and life-extending treatments. They are some of the most powerful and effective treatments for rare diseases ever seen, and the highly specialised technology evaluation committee recommended them for funding in England, but none of those life-changing medicines would have been able to raise the lower threshold significantly, and none would have been approved under the new regime.

If implemented, the plans will significantly affect patients with rare diseases and their ability to access life-changing treatment, at a time when we should be expanding access routes rather than limiting them further. The changes contradict the positive recommendations made in the accelerated access review and will restrict any attempt through the industrial strategy to position the UK as a centre for the development of innovative medicine. England already has extremely slow and limited access to treatments for rare genetic conditions; further narrowing of access routes will shut the door to innovation for our community of patients and families. It is unacceptable to implement such drastically damaging proposals just 18 days after they were announced. I therefore join the sector in calling for a pause in implementing the proposals and for a consultation and impact assessment.

I thank the hon. Gentleman for his kindness in giving way once again. The John Walton Muscular Dystrophy Research Centre was named after a peer, now sadly deceased, who also founded Muscular Dystrophy UK and saw over a long lifetime the importance of the UK’s role in innovative science and research techniques, and its economic benefits to the research sector and, more widely, our international reputation. The changes proposed to NHS England will do much to undermine that.

I think the sector agrees on that point, from patient groups to the constituents whom the hon. Lady represents, as well as all the people with an undiagnosed condition who might access the services of that facility in future and many others throughout the country. The Government need to rethink the implementation and ultimately introduce an impact assessment on that basis.

I know that several hon. Members want to speak, so I will conclude by welcoming the commitment and dedication of this Minister and the Under-Secretary of State for Health, my hon. Friend the Member for Oxford West and Abingdon, in providing a solution to our long-standing problems with the implementation of the rare diseases strategy in England. Following the publication of our report, I hope that the Minister will be able to provide clarity on the questions that I have asked. The UK is doing superb work and leading internationally on rare diseases.

I commend my hon. Friend on securing this important debate. My constituent Will Newman contacts me regularly about his granddaughter Ellie, who lives outside my constituency. He wanted me to come to this debate and thank my hon. Friend and the Minister for the work that they are doing. We think that rare diseases do not affect many people, but those whom they affect, they affect hugely. Does he, like me, take heart from the Prime Minister’s words in September? She said at Prime Minister’s questions:

“We are committed to ensuring that patients with rare conditions get access to the latest medicines”. —[Official Report, 7 September 2016; Vol. 614, c. 334.]

As she also said, we are taking the necessary steps to get those to them.

I thank my hon. Friend for that intervention. He is a great champion for his constituents. I share his hope in the Prime Minister’s commitment, made at an early stage in her office, and in a Minister who obviously understands rare diseases, having one herself, and who has made a clear personal commitment to resolve the issue. Having worked alongside the Department of Health for many years, I have been wanting to see this come to fruition. I am glad that we now have a leadership commitment in place to deliver it for the first time, at least in my memory of working alongside the NHS.

The UK is doing superb work and leading internationally on rare diseases. I hope that our all-party parliamentary group’s report will make a significant difference and help to steer the Department of Health to a place conducive to both the Minister’s requirements and ours. I look forward to hearing his response.

Before I call Margaret Ritchie, I will give some guidance. I am sure that hon. Members are aware that the spokesman for the Scottish National party will have five minutes, as will the shadow Minister. The Minister will have 10 minutes. This debate is due to finish at 5.30.

It is a pleasure to serve under your chairmanship, Mr Pritchard. I congratulate the hon. Member for Bath (Ben Howlett) on his thoughtful contribution and on securing this important debate. He has given leadership on the issue, drawing on his professional field and as chair of the all-party parliamentary group, for which we are particularly grateful.

Those who suffer from rare diseases struggle for recognition, funding and resources, but rare diseases collectively are not rare; there are over 6,000 of them, and many Members here have constituents who are among the 3 million people throughout the UK affected by such diseases. The range of rare diseases is wide, but they have in common an impact on the lives of those who suffer from them and on those of their families and carers. In October last year, I chaired the annual general meeting in Northern Ireland on Behçet’s disease, a very rare disease that affects suffers with listlessness and muscular atrophy. They cannot get close to a level of diagnosis that comes with a clear medical plan for dealing with their particular disease.

Having a rare disease presents its own unique challenges. The testing experience of ill health is exacerbated by the difficultly of diagnosis and the subsequent struggle to access medicine and treatment. Other sufferers of rare diseases in my constituency have told me of the need for a co-ordinated approach to diagnosis and implementation of a treatment plan across all medical disciplines, which is sometimes sadly lacking.

I come to the issue from a Northern Ireland perspective. The hon. Member for Bath referred to an implementation plan for the nations and regions within the UK. A constituent who has a rare disease, as does her son, suggested to me that they originally received a considerable level of co-ordinated treatment here in Great Britain, but not in Northern Ireland. That issue must be addressed under our own singular plan.

Of course, proving the safety and effectiveness of treatments and medicines is an added difficulty in rare diseases with complex data, or perhaps even a dearth of data. I echo the vision of the Northern Ireland Rare Disease Partnership: no one should be disadvantaged because of the rarity of their condition. People with rare diseases should be able to expect access to the safe, effective and affordable drugs and treatments that they need.

Other hon. Members have mentioned muscular dystrophy in their interventions, specifically Duchenne muscular dystrophy, which affects more than 2,500 children and adults in the UK. Assisted ventilation is required to help older Duchenne patients to breathe, which necessitates 24-hour care, and some patients undergo a tracheostomy procedure. I have heard worrying reports that medical centres that conduct clinical trials for Duchenne muscular dystrophy and other muscle-wasting conditions are facing a lack of capacity and resources and are having to turn studies away, which risks thwarting the development of promising new drugs and the search for effective treatments that the hon. Member for Bath referred to.

As a Member of Parliament who represents a constituency in Northern Ireland, I was pleased that the then Northern Ireland Executive published their rare diseases implementation plan in October 2015, some two years after the report here was published. The plan identified four priorities: Northern Ireland’s participation in the 100,000 Genomes Project; a commitment to review communications and information; a review to establish a Northern Ireland rare diseases registry; and training needs analysis for medical professionals. The next steps, of course, are to monitor the outcomes of those reviews and to listen closely to the people who are directly affected by the actions of the Department of Health. One of my principal regrets is that we do not currently have a Northern Ireland Executive; civil servants are monitoring the issues but do not have the authority or directives to drive policies forward.

The founding principles of the NHS—that care should be free at the point of delivery and in accordance with need—must be observed. This debate is important because we need to find ways to ensure that those who suffer from rare conditions, for which proving safety and effectiveness is not easy, are not disadvantaged simply because their condition is rare or because the statistics are complicated. The Northern Ireland Rare Disease Partnership told me yesterday that it is not convinced that the latest efforts in that regard from NICE and NHS England are the final answer or even a good answer. It wants NHS England and NICE to look at the testimony of patients who are directly affected, and think about what “need” actually means in today’s world. It cannot just mean paracetamol for headaches; it must mean life-saving or life-altering treatment.

I fear that delays in the progress of implementation will be another unacceptable result of the political situation that we currently face. It is important that we have a political driver—a political authority—to implement our rare diseases strategy fully. I will continue to be guided by the judgment and first-hand knowledge of constituents who have a rare disease, and to measure the success of our local strategy by their experience of how it is implemented.

It is a pleasure to serve under your chairmanship, Mr Pritchard. I congratulate the hon. Member for Bath (Ben Howlett) on securing this debate and on his excellent work as chair of the all-party group.

My interest in this subject has been stimulated by visiting a number of key research sites in and around Cambridge, where vital work is being done to develop new treatments. The Sanger Institute has the world-famous and world-leading 100,000 Genomes Project and works closely with the adjoining European Bioinformatics Institute. Because of Brexit, both institutes face major problems with retaining key staff and ensuring data flows, although that is a debate for another day. We also have the National Institute for Health Research’s biomedical research centre, which is led by Dr John Bradley and based at Addenbrooke’s hospital.

I recently joined Dr Bradley and Professor Lucy Raymond, professor of medical genetics at Cambridge, to celebrate Rare Disease Day at an illuminating roundtable with patients and practitioners. We heard case studies that highlighted some of the very difficult challenges that patients with rare diseases face, including practical difficulties with the benefits system. I was particularly struck by meeting a patient who suffered from lupus. She explained that she had good days and bad days—something that the welfare system just cannot cope with, making her already difficult life even harder. The message that I came away with—apart from the important links to the genetic sequencing work being done at the Sanger and the need to identify the right people to test—was that research into rare diseases not only helps with those diseases, but leads to discoveries with a much wider application.

I will focus my comments on new treatments and on how to ensure ready access to them. As we have heard, this debate is very timely because it comes hot on the heels of recent NICE guidance that introduces a financial cap for access to new medicines. NICE is proposing an upper limit for costs per quality-adjusted life year, above which it will not recommend funding for highly specialised technology treatments. That decision could have a profound impact on people affected by rare diseases in the UK. On Thursday, when I asked the Leader of the House for a debate on the matter, he replied that

“decisions about individual medicines are taken by a body such as NICE, where clinical judgment is to the fore, rather than being subject to political pressure”.—[Official Report, 23 March 2017; Vol. 623, c. 966.]

None the less, I am glad to have the opportunity to raise the matter today. I agree that it should be for NICE to decide, but this is a significant change from medical efficacy to financial rationing. Such a highly political change should be debated here, not outsourced.

We must listen to what charities such as Alzheimer’s Research UK and Cancer Research UK are saying. They warn that lives will be lost because of this new rationing system. I was particularly struck by the words of the MPS Society, which provides support to people affected by mucopolysaccharide diseases. It said that the decision by NICE and NHS England

“will affect the most vulnerable in UK Society and confirms that children and young adults with ultra-rare diseases going forward are economic pawns in a failing NHS and cheaper dead than alive.”

Those are very strong words. They are not mine, but they show how people feel, and I am sure that the Minister will have noted them.

Genetic Alliance UK said:

“NICE, in close collaboration with NHS England, are sending a clear message that they are unwilling to fund new innovative treatments for rare diseases. This is a real slap in the face for patients and families with rare diseases, and contrary to the founding principles of the NHS.”

It has also suggested that, as we have already heard, none of the four rare disease medicines that have so far been approved would have been approved under the new proposals, which it believes will cause a

“drastic reduction in access to innovative treatments for very rare diseases in England”.

It is also worth mentioning that the guidance will have an impact not only on people affected by rare diseases, by closing off their access to innovative treatments, but on the UK’s vital life sciences sector more broadly, as it risks curtailing investment in new medicines. As the BioIndustry Association says, it sends

“an immediate, stark, negative signal to the global life science investors and companies that the UK needs to attract in the Brexit era.”

The reaction from patient groups, as well as from industry, demonstrates the broad concern about the adverse impact that NICE and NHS England’s decision will have on patients. The UK strategy for rare diseases published in 2013 has the laudable aims of raising awareness of rare diseases and improving diagnosis, research and access to services for people affected, but there is a real risk that those aims will be undermined by the new guidance.

I echo the calls from the hon. Member for Bath and other hon. Members for the Department of Health to publish an implementation plan for the UK strategy for rare diseases, because until we see a coherent plan, progress on the strategy’s objectives will continue to stall. As the all-party group has rightly summarised:

“An implementation plan…is a tool for delivery, coordination, collaboration, communication and monitoring.”

Such a plan would also enable stakeholder groups to have a clear idea of which institutions they could work with to influence the implementation of the strategy.

We have already heard today that the Minister responsible for public health and innovation, the hon. Member for Oxford West and Abingdon (Nicola Blackwood), has made a personal commitment that the UK rare diseases strategy should be translated into an implementation plan. I applaud her for that commitment, but I hope the Minister will confirm that the Department will follow through on it, because last year the then Health Minister, the hon. Member for Mid Norfolk (George Freeman), stated in a written answer:

“There are no plans to consult on the implementation plan”.

The Government have described the UK strategy for rare diseases as

“a long term strategic vision for improving the lives of all those with rare diseases and conditions”

and have committed

“to ensuring that patients with rare and ultra-rare diseases in England are able to access effective treatments.”

I fear that recent decisions will mean that access to those effective treatments will be shut off. The Government must act urgently if they want their strategy to move beyond paper and reach the patients and people it aims to help.

It is a pleasure to serve under your chairmanship today, Mr Pritchard, and I am grateful to the hon. Member for Bath (Ben Howlett) for securing the debate, for his informative speech and indeed for the work that he has undertaken with the all-party group.

As we have heard, rare disease affects considerably more people than we would at first imagine, with over 3 million people across the UK likely to suffer from a rare disease at some point in their lives. The Scottish Government’s implementation plan for rare diseases in Scotland recognises this fact in its title: “It’s Not Rare to Have a Rare Disease”.

My own constituency has had, as I am sure every other constituency has had, several fairly high-profile rare disease cases. These cases attract media attention and affect entire communities, not just the family directly affected; often, communities have to raise funds to help with treatments and raise awareness. Such a case was that of Kirsty Reid from Whitburn. In 2015, after being diagnosed with pseudomyxoma peritonei—it is one of those conditions where the acronym, PMP, is slightly easier to say—Kirsty raised over £7,000 to help others diagnosed with the rare condition, which affects only two people per million.

We also have a charity called Shavon’s Journey, which was set up in 2012 following the death of Shavon Morton from Grangemouth after a long fight with aplastic anaemia, a condition in which bone marrow does not produce sufficient new cells to replenish blood cells. I could go on with other examples, but I think we all get the point— rare diseases touch the lives of many, and therefore the importance of raising awareness, and of improving diagnosis and ultimately the services and treatments to sufferers, cannot be overstated.

I thank my hon. Friend for giving way and I congratulate the hon. Member for Bath (Ben Howlett) on securing this debate. The Teddington Trust, which is jointly run by one of my constituents, supports people living with xeroderma pigmentosum, who lack the DNA repair mechanism necessary to repair damage caused to the skin by exposure to ultraviolet sunlight. Does my hon. Friend join me in commending the work of the Teddington Trust and the work of many other rare disease charities in supporting those living with rare diseases and keeping rare diseases on the political agenda?

I do indeed join my hon. Friend in commending the work of so many good charities and organisations in this field.

The Scottish Government’s implementation plan, which I have mentioned, sets out the Scottish approach to delivering the UK strategy commitments. Key to the plan is recognising the importance of timely and accurate diagnosis, and allowing treatments to start as soon as possible. The Scottish Government have substantially increased access to new medicines, particularly for cancer, due to reforms and investment in recent years, which has led to a marked increase in uptake of orphan, ultra-orphan and end-of-life medicines.

Last year, the Scottish Government launched a review of the way drugs are assessed for NHS use, which was led by the former NHS Fife medical director, Dr Brian Montgomery. His review looked at how changes made to the Scottish Medicines Consortium process in 2014 had affected access to medicines for rare and end-of-life conditions. The review’s recommendations set out how the process for appraising medicines can be made more open, transparent and robust, and the Scottish Government have committed to implement all 28 of its recommendations, such as a new approval pathway, outwith the standard SMC process, for these high-cost medicines for very rare conditions.

The Scottish Government’s peer-approved clinical system, or PACS, has helped to give patients and clinicians a better say in which new medicines are approved by the SMC for use in NHS Scotland, particularly those used for rare or life-limiting conditions. PACS was first piloted in Glasgow in 2015 and has been successfully rolled out across Scotland, and a second tier of PACS will now be introduced to replace and build on the existing individual patient treatment request system. A new national appeals process will be introduced through this new tier of PACS, which will include consideration of equity of access with other parts of the UK as a material part of the decision-making process.

It is also perhaps worth saying at this point that the Scottish Government are happy to work with the National Institute for Health and Care Excellence, and indeed with any other countries, to improve access to medicines in Scotland and to obtain a fair price from the pharmaceutical industry. I emphasise that last point, because we now need the pharmaceutical companies to do their bit by bringing forward fairer prices for new medicines, so that access can be as wide as possible.

Finally, we know that the Health Secretary has said that he does not expect the UK to remain within the European Medicines Agency, which raises a number of concerns about potential delays in new drugs reaching patients in the UK. Sir Alasdair Breckenridge, who was the chairman of the UK’s drug regulator—the Medicines and Healthcare Products Regulatory Agency—for almost a decade, said last month:

“The UK market compared to the European market of course is small and they may decide not to come to the United Kingdom. So therefore there will be delay in getting new drugs—important new drugs, anti-cancer drugs, anti-infective drugs—for patients in the UK.”

He is not alone in saying that; David Jefferys, vice-president of Japanese drugs firm Eisai, has also warned that UK patients could face delays of up to two years. I would be grateful if the Minister could advise in his response to the debate how these dire warnings can be prevented from becoming a reality.

It is a pleasure to serve under your chairmanship this afternoon, Mr Pritchard.

I welcome this important debate and I thank the hon. Member for Bath (Ben Howlett) for securing it and for his excellent introduction to it, although I am sorry that I missed the start of his speech because it started four minutes early before my hon. Friends and I were in our places.

I also thank other hon. Members for their contributions this afternoon, including the hon. Member for South Down (Ms Ritchie), my hon. Friend the Member for Cambridge (Daniel Zeichner) and the hon. Member for Linlithgow and East Falkirk (Martyn Day), the spokesman for the Scottish National party, who all made excellent and insightful speeches.

As others have said, here in the UK one in 17 people will be affected by a rare disease at some point in their life, which equates to approximately 3.5 million people in the UK. It cannot go unsaid that those 3.5 million people have a wide range of symptoms, which vary from condition to condition, some of which we have heard about this afternoon. It is clear that there are common experiences that people with these conditions all share. As Rare Disease UK has estimated that it takes on average four years for a patient to receive a diagnosis, it is clear that there are many missed opportunities to help those people living with rare diseases. Each and every person who suffers from a rare disease deserves the necessary support to live a fulfilling life.

That is why it was welcome that in 2013 the coalition Government published their UK-wide strategy for rare diseases, which was seen as heralding a new era in the treatment and care of rare disease patients across all four home nations. The 51 recommendations are all to be welcomed, as they each take us a step further in addressing concerns about the care and treatment of rare diseases, and the strategy’s aim is to make sure that no one gets left behind just because they have a rare disease. It is an aim that Labour welcomes wholeheartedly.

Most of my contribution to this debate will focus on the issues with the implementation of the strategy, but I will take a moment to mention some of the positives. It is welcome to see that the National Institute for Health Research has launched the Rare Diseases Translational Research Collaboration—I will use the acronym, RD-TRC, as it is much easier to say—which aims to empower patients to engage and become involved with research and research funding decisions. To date, the NIHR has invested £4 million in the RD-TRC, and the programme is expected to continue for another five years, with a £5 million investment.

Work has also been done by Public Health England on data recording, to bolster diagnosis and early intervention, and we have also seen Health Education England collaborate with the National School of Healthcare Science to produce two educational videos for healthcare professionals, in order to raise awareness of the problems faced by families who have a child with an undiagnosed condition and the importance of considering whether it is a rare disease. All this work is to be welcomed and should not go unnoticed.

Yet the sticking point in all of this, and the reason why we are here today to debate this issue, is that the Government are digging their heels in and not getting on with drafting an implementation plan, while the other home nations’ Health Departments are making significant strides. That betrays not only those patients living in England who wish this strategy to be properly implemented but the strategy itself, which stated that all four home nations must see the vision behind the strategy become a reality by 2020. It also undermines all the excellent work that I mentioned previously to implement the recommendations.

The strategy was published in 2013 and we are now just three years from the date set for the vision to be realised. However, the all-party group that the hon. Member for Bath so ably chairs has discovered that the Department of Health does not intend to publish an implementation plan, believing that it should be published by the NHS. Yet the NHS has said that it does not intend to do this either, as it does not have responsibility for other arm’s length bodies of the Department of Health. I want to ask the Minister why. I want to know why we are seeing patients and their families caught in this dispute between the NHS and the Department of Health. This situation cannot continue; there are people suffering right now who need this strategy to be implemented correctly.

I have briefly mentioned the report by the all-party group on rare, genetic and undiagnosed conditions on the lack of an implementation plan, but I know that it covers other issues as well, and I will take a moment to touch on some of them. One of the main issues raised was the lack of communication between organisations responsible for implementing the various aspects of the plan, and the failure to provide patients, families, doctors, industry experts and patient organisations with updates on progress of the strategy. That is deeply worrying, as it is important that people are made aware of the issues that affect them so personally. Therefore, it is not surprising that the all-party group heard from more than 300 patients that widespread disillusionment and disappointment had become the common feeling about the strategy, despite the optimism felt when it was published five years ago. The sting in the tail is that there are implementation plans for the strategy across the UK, with the exception of here in England. I share the frustration of the many others who are affected by the Government’s complacency. The Department’s rationale for not providing updates on progress is that patient organisations can disseminate information to patients and families, but it sadly fails to grasp that those organisations and charities are often very small and do not have the resources to pull together updates and send them out.

Also, issues that have not been worked on since the strategy was published have been identified, including prevention and identification of rare diseases, improving care pathways and failing to implement structures that would facilitate collaboration between the four home nations. In his response, I would be grateful if the Minister could provide us with an update on those points and tell us what his Department plans to do to see the recommendations through.

The strategy is now five years old, and although there has been work to see it realised, it has not gone far enough. The failure here is that the Department of Health in England is not fulfilling its duty to draft an implementation plan to realise the visionary goals in the strategy, which undermines the work already under way and hinders any future work. The Minister must set that right, and I hope he plans to do so today. He has the power to rectify the situation and he cannot be complacent when it comes to supporting people living with rare diseases.

We are not talking about a handful of people; many of our own constituents are being failed by the Government, and all they ask for is that the Department of Health do what Departments in the other home nations are doing and provide an implementation plan to enable the strategy to be fully realised and make the impact it was intended to have. I once more thank the hon. Member for Bath. I hope that the debate will make the Minister think again about the Government’s opposition to taking responsibility for a plan, and that he will honour the whole vision of the strategy, instead of cherry-picking from it.

If the Minister does not use all the time allocated—10 minutes is a guide, but clearly there is more time on the clock—it will allow me to call the hon. Member for Bath for a brief winding up, but that is entirely in the Minister’s gift.

Mr Pritchard, I am grateful for your generosity and guidance. You are chairing the debate admirably, as usual. I congratulate my hon. Friend the Member for Bath (Ben Howlett) and the other members of the all-party group on rare, genetic and undiagnosed conditions on securing the debate and on producing a timely and informative report. My hon. Friend rightly pointed out that the Under-Secretary of State for Public Health and Innovation would have been the Minister responding to the debate, but I am sure he will understand why she cannot be here: she was invited to accompany the Prime Minister elsewhere today. I regret, for him, that that proved an invitation hard to resist. It has, however, given me the opportunity to learn more about rare diseases and I am grateful to my hon. Friend for that. I hope to be able to address some of the comments that he and other hon. Members have made.

As has been acknowledged, the UK strategy for rare diseases was published in 2013 and set out a high-level framework that aimed to improve the lives of those affected by rare diseases. The Government remain committed to implementing the strategy by 2020 and are aware that the real test of success will be tangible improvements experienced by patients with rare diseases and their families. Last month’s publication of the all-party group report is a timely reminder that there is still much to do, as has been mentioned by all speakers today. However, it is important not to forget just how much we have achieved.

NHS England has been actively working to raise the priority given to rare diseases. In particular, advances in genomics are already having a positive impact on patients with rare diseases. NHS England has embarked on a world-leading project to establish genomics in mainstream healthcare, establishing a network of 13 genomic medicine centres that will underpin the delivery of genetic medicine over the years to come. The Government have also made a clear commitment to developing genomics, and that is best demonstrated by the £500 million investment in the 100,000 Genomes Project, which is the biggest national sequencing project of its kind in the world.

The full potential for genomics can be realised only with continued research into rare diseases, and the National Institute for Health Research has established a Rare Diseases Translational Research Collaboration to make maximum use of its significant research infrastructure. I welcome the support given by the Opposition spokesperson, the hon. Member for Washington and Sunderland West (Mrs Hodgson), to that initiative. It is supported by a £20 million investment and has already recruited more than 15,000 patients to support 56 projects related to rare diseases.

I am pleased to say that the UK is a recognised leader on many rare diseases. We are an active member of the International Rare Diseases Research Consortium and have been actively involved in the establishment of 24 European reference networks—ERNs—for rare disease, six of which we are leading on. I was at an informal meeting of EU Ministers early last week, where our role in punching above our weight for the ERNs was widely acknowledged.

An important element of our plans will be to continue to look for ways in which the UK can work with international partners. The all-party group, along with hon. Members present in the debate and a number of external groups in the rare diseases community, have raised concerns about the perceived impact of the planned changes to the methods used by the National Institute for Health and Care Excellence for the evaluation of highly specialised technologies. That is one of a set of proposals being introduced by NHS England and NICE following the recommendation in last year’s Public Accounts Committee report on specialised services that the Department of Health and our arm’s length bodies should better consider affordability when making decisions, including on rare diseases. NICE and NHS England have consulted on the proposals, and I can assure hon. Members that they have listened carefully to the responses and made substantive changes.

The planned changes to NICE’s methods, as amended following the consultation, recognise the unique position of patients with very rare diseases and the need to pay a premium for their treatments. The changes introduce a clearer framework for the assessment of drugs for very rare diseases, which will better enable commercial discussions between NHS England and the pharmaceutical companies, in line with the recommendations of the accelerated access review. The consultation originally proposed the introduction of a threshold of £100,000 per quality-adjusted life year. In response to feedback, that single threshold has been replaced by a sliding scale, which means it will be possible for transformative treatments that offer significant health gains to be approved up to £300,000 per QALY. That is 10 times greater than NICE’s threshold for treatments considered by its mainstream technology appraisal process.

My hon. Friend the Member for Bath can speculate, but I gently say to him that it is not possible to predict how likely any individual new drug is to be recommended by NICE under the changes in the future, and we cannot retrospectively apply the new framework to past decisions. Furthermore, it is important to stress that even when NICE is not able to recommend a drug for the full patient population, NHS England may still be able to fund a drug for a subgroup of patients who will most benefit from treatment.

The hon. Member for Linlithgow and East Falkirk (Martyn Day) referred to the co-operation of Scotland, along with the other devolved nations, in collaborative work. We acknowledge and welcome that, and we acknowledge that Scotland has published an implementation plan. My hon. Friend the Member for Bath referred to four examples of drugs that NICE had approved for use for rare diseases in England, and they are available for use in Northern Ireland. The hon. Member for South Down (Ms Ritchie) asked about that. In particular, Translarna was approved for Duchenne muscular dystrophy, which she referenced. I gently say to the hon. Member for Linlithgow and East Falkirk that those four drugs are not yet available in Scotland—at least, not according to my briefing—other than one that is available for restricted use. Although we wish to continue co-operating with Scotland, the system in England has some advantages thus far.

I am confident that the planned changes create a framework that will enable truly transformational new drugs for patients with rare diseases to be made available where companies are willing to set prices that fairly reflect the added benefit they bring.

I congratulate the hon. Member for Bath (Ben Howlett) on securing this debate. I welcome the progress that the Minister has described, but one thing that has been touched on in several speeches is the difficulty people have as a result of the nature of rare diseases. When they are trying to get a diagnosis in the first instance, medical practitioners often have no experience of the disease. As he develops his speech, or as the Department develops the policies and framework for delivering more services, will consideration be given to how that knowledge can be more widely spread?

The right hon. Gentleman anticipates something that I will come to shortly in my speech, but we acknowledge that challenge and we recognise that there will continue to be concerns among patient groups and Members. I hope that my hon. Friend the Member for Bath in particular will understand that the proposed changes are intended to put in place a fairer, more transparent framework for the evaluation of technologies for very rare diseases as they are developed.

I want to respond specifically to the challenge posed by my hon. Friend and the shadow Minister on the real need to ensure that the commitments set out in the UK rare disease strategy are fully realised. It is right that last week in the House, my hon. Friend the Under-Secretary of State for Public Health and Innovation made a personal commitment to that effect in her response to my hon. Friend’s oral question, and I am happy to reiterate that commitment today. I can confirm to the House that I have agreed with the chief executive of NHS England that by the end of this year he will deliver an implementation plan for those of the 51 commitments of the UK strategy for rare diseases for which NHS England has lead responsibility. For those commitments that fall outside NHS England’s remit, the Department will work collaboratively across stakeholders to contribute to the implementation plan. I am sure my hon. Friend will agree that the development of that plan will be a significant step in the journey.

I welcome my hon. Friend’s acknowledgement of that. We are absolutely clear that we need to ensure that the proposals are used to drive real action and make tangible improvements for patients affected by rare diseases. It is not only about having a plan but about ensuring that the plan has effect for sufferers of these conditions. That is why we have recently reconfigured and strengthened the governance arrangements and formed a more streamlined UK rare disease policy board to monitor and co-ordinate progress in implementing the strategy.

In addition, we have strengthened the patient voice with the appointment of two patient representatives to the policy board. To make our work more transparent, a broad online stakeholder forum will operate in collaboration with the policy board to allow a more meaningful dialogue with the rare disease community. The rare disease policy board will be supported by clearly defined task and finish groups to examine progress objectively and to consider in particular the diagnostic odyssey that my hon. Friend referred to, which can be so frustrating for those who are still unable to determine their condition. That issue is a considerable worry for anyone affected by a rare disease, who will be familiar with the problem.

I will conclude slightly ahead of schedule by confirming that the lives of patients with rare diseases can be improved only by means of concerted and co-ordinated action. I take this opportunity to reaffirm the Government’s aims to drive real improvements in the care and treatment of those affected by rare diseases by working with stakeholders to deliver the standard of care and treatment that all patients deserve and to ensure that the implementation plan for England is delivered by the end of this year.

I will be brief. I thank the Minister for his response. The news about the implementation plan being brought in before the end of the year is incredibly welcome, and I thank him for taking leadership on that. That is a message to go back to my hon. Friend the Member for Oxford West and Abingdon (Nicola Blackwood) while she is with the Prime Minister. I appreciate that it is potentially a lot nicer to be with the Prime Minister than here. Nevertheless, the Government’s position is welcome.

I thank all Members for contributing to the debate. I particularly thank the hon. Members for South Down (Ms Ritchie), for Cambridge (Daniel Zeichner), for Linlithgow and East Falkirk (Martyn Day) and for Washington and Sunderland West (Mrs Hodgson) for their supportive comments. The time is now. The all-party parliamentary group, working with Genetic Alliance UK and Rare Disease UK, which provide the secretariat to the APPG, will be monitoring the progress that the Minister, the Department and NHS England make over the next few months. Progress will be incredibly welcome. The Minister referred to the highly specialised technology change and explained how the consultation has operated, and I appreciate that, but I reiterate that there is concern within the sector. The Ministers may be able to reassure people that that concern is being taken into consideration.

For a long time I have said that the accelerated access to medicines review might be a good pathway for rare diseases in the future. The work that the former Minister for Life Sciences, my hon. Friend the Member for Mid Norfolk (George Freeman)—he is now chair of the Prime Minister’s policy unit—has done and continues to do will be incredibly important. Thank you, Mr Pritchard, for chairing the debate. I thank the Minister for updating the House, and I also thank Members and all those who gave evidence and support to the APPG in its inquiry.

Question put and agreed to.


That this House has considered implementing the UK Strategy for Rare Diseases.

Sitting adjourned.