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UK Rare Diseases Framework

Volume 691: debated on Wednesday 24 March 2021

I remind hon. Members that there have been some changes to the normal practice, in order to support the new hybrid arrangements. Timings of debates have been amended to allow technical arrangements to be made for the next debate, so there will also be suspensions between each debate. I remind Members participating physically and virtually that they must arrive at the start of the debate in Westminster Hall. Members are expected to remain for the entire debate. I must also remind Members participating virtually that they are visible at all times, both to each other and to us here in the Boothroyd Room. If Members attending virtually have any technical problems, they should email Westminster Hall Clerks. Members should clean their spaces before they use them and before they leave the room. I remind Members that Mr Speaker has stated that masks should be worn in Westminster Hall except, of course, when speaking.

There are no more notes from me but a reminder that we shall move to winding-up speeches at about 5.28, and after the first speech I am afraid I shall have to put in a formal three-minute time limit, because it is a heavily subscribed debate.

I beg to move,

That this House has considered the implementation of the UK Rare Diseases Framework.

It is a pleasure to serve under you in the Chair, Mrs Miller. About one in 17 people will during their lifetime be affected by a rare condition. Around 70% of such conditions begin in childhood and are lifelong. Genetic Alliance UK estimates that rare diseases are responsible for about one third of infant mortality in the UK. Those living with a rare condition can face significant challenges in getting a diagnosis, getting access to treatment, and receiving co-ordinated care, as well as challenges with employment, education, social life and mental health.

The UK rare diseases framework, which was published earlier this year, presents an opportunity for the rare diseases community. There is hope that the framework will enable people living with rare, genetic and undiagnosed conditions to get access to the appropriate care and the treatment that they need to manage their condition. However, we have been here before. In 2013 the UK strategy for rare diseases was published, with the promise that no one would be left behind just because they have a rare disease. When the strategy expired last year, people living with rare conditions were confused and disappointed. Although the strategy had made some progress, it had failed in its commitment to transform the lives of all those affected by rare conditions.

A major factor that prevented the true potential of the strategy from being realised is the long delay from the Department of Health and Social Care or NHS England in developing and publishing an implementation plan. The strategy was published in 2013, yet an implementation plan for England was delivered only in 2018. Not only did that prevent progress in England; it also stymied developments in the devolved nations, which were unable to collaborate effectively without a plan. As yet, the Department of Health and Social Care and NHS England have not published the outcome of the strategy. If we are to learn from the mistakes of the past, we must evaluate what happened with the strategy. Will the Minister comment on whether the Department of Health and Social Care and NHS England will in fact report on the outcome of the strategy?

The UK rare diseases framework is the beginning of a new chapter. For it to be implemented effectively, the Department of Health and Social Care and NHS England must work together to deliver a timely and comprehensive action plan. That action plan is needed now more than ever because the rare diseases community has been waiting long enough for improvements in care and treatment. The pandemic continues to bear heavily on the health and wellbeing of those with rare conditions, who are among the most vulnerable to covid-19 impacts. There is a gap in detailed policy to drive improvements for people living with rare conditions in the UK, until action plans are published to implement the framework.

The framework covers four key areas and seeks to make progress. The first priority is to help patients to get a final diagnosis more quickly. On average, rare disease patients wait four years to receive a diagnosis, with some waiting over 20 years. For people with a rare condition, it is often a long journey, frequently with several misdiagnoses, until a final correct diagnosis is reached. Often this journey is labelled as the diagnostic odyssey. The framework describes what is already happening to improve diagnosis, but it does not talk about improving the screening service for people living with rare conditions. The UK National Screening Committee currently screens for just nine conditions using the heel-prick test. That compares poorly with many European countries: Italy and Iceland screen for more than 40, Poland and the Netherlands screen for more than 30, and Hungary, Slovakia and many others screen for more than 20 conditions.

Earlier this month, the National Institute for Health and Care Excellence approved access to a new gene therapy for spinal muscular atrophy. NICE said that for some babies who are diagnosed before they have symptoms, it might come close to being a cure. For it to have the chance to be a cure, however, we need to identify the babies before they begin to be affected by the condition. To do that, we need newborn screening for spinal muscular atrophy. We need joined-up thinking that allows a screening programme to be developed in parallel as such medicines come over the horizon. Will the Minister confirm whether we will increase the scope of newborn screening in the UK or make changes to the UK National Screening Committee’s processes?

The framework also talks about Genome UK and the NHS genomic medicine service helping patients to get a final diagnosis more quickly, but it does not talk about how patients will access such services. The framework recognises that people with non-genetic conditions needs to be diagnosed through other means. We will need an action plan that sets out a realistic way to improve this, and we will need to demonstrate that the system becomes better at diagnosing everyone, not just those who are found through genome sequencing. Can the Minister confirm that that will be done?

Moreover, the framework does not talk about what happens after a diagnosis is delivered. We cannot abandon people after we have given them their diagnosis. My final point on diagnosis is this: what about the people who are stuck on the diagnostic odyssey? Do we know how many people have been waiting for five, 10 or 20 years for a diagnosis from the NHS? Will we track such people? Will we monitor whether everyone is receiving equitably the tests to which they are entitled? Will the Minister please comment on that?

The second priority of the framework is to increase awareness among healthcare professionals of rare diseases. People affected by rare conditions meet many healthcare professionals on their journey to find a diagnosis, and beyond while they live with their rare condition. For some it is a positive experience; for others it can be particularly challenging. This year, Genetic Alliance UK received an inquiry from an individual whose GP had told them that they could not possibly have the genetic condition that they were concerned about, because it is just too rare. Any individual clinician cannot be expected to know about all rare conditions, but they can be empowered to understand how to handle such cases. The framework does not address in detail how it will increase awareness among healthcare professionals of rare diseases. It does not provide details of how education programmes will be delivered, nor does it explain in detail how success will be measured. What measurements will be put in place to ensure learning for healthcare professionals in the NHS? Will there be a survey of experience now and in the future, to demonstrate improvement? Will that be included in the English action plan?

When clinicians do not engage with an individual who has a rare condition in order to understand their diagnosis and ensure that care is compatible with their needs, it can and has led to life-threatening situations. One way to prevent such situations from occurring is by providing rare disease patients with alert cards, which include information about the patient’s rare disease and any particular aspects of the treatment of that rare disease that need to be taken into account in providing care. In January 2018, NHS England promised that all rare disease patients in England would have access to a rare disease alert card. May I request an update from the Minister on alert cards specifically? How many rare disease patients have been issued with an alert card?

The third priority of the framework is to improve co-ordination of care. Many patients have numerous professionals involved in their care and therefore it is essential that there be co-ordination and communication among healthcare professionals, their patient and the family. The framework does not address how care co-ordination can be mainstreamed within rare condition care in the NHS. There are no details as to how the challenges of ensuring continuity of care during the complex transition between rare condition services might be addressed. Again, how will success be measured? Will there be outcome measures demonstrating increased care co-ordination services in the NHS, and will there be a survey now and in the future to demonstrate improvement in the experience of people living with rare and genetic conditions?

The final priority of the framework is to improve access to specialist care, treatment and drugs. Only about 200 medicines are specifically available for rare conditions, and fewer than that are available on the NHS now. Small patient populations and accelerated market authorisation mean that rare disease medicines can rarely have sufficient evidence to meet the expectations of health technology assessors in the UK. Few life-saving treatments are reaching rare disease patients, which means not only that the UK is falling behind other European nations in terms of treatments available, but that patients and their families can be left in the dark, unsure of what is next.

We have extremely frustrating situations such as that faced by families affected by phenylketonuria, who, 12 years after marketing authorisation for the drug, are not receiving access to Kuvan, despite the Prime Minister’s promises to work on the issue and the treatment being available in 24 European countries. Again, the framework does not talk about how success will be measured. Will there be outcome measures demonstrating increased access to specialist care, treatments and medicines, and will there be a survey now? Will the Minister comment on that?

My final point is this. Understanding the experiences and preferences of people affected by rare conditions is fundamental to providing care and treatment and to ensuring that support, information and services are available and targeted to meet needs. The national conversation on rare diseases on which the UK rare diseases framework is based does not reflect the whole rare disease community. It is important that the English action plan is created in consultation with a more diverse and inclusive group, so that we can understand and meet the needs of all those affected by rare, genetic and undiagnosed conditions.

I want to finish by talking about something that happened yesterday. I want to mention Norman Clayton, who watched Prime Minister’s questions last week and heard me ask my question on access to Kuvan for those with PKU. Norman is 91 years old and was moved, after all these years, to contact NSPKU—the National Society for Phenylketonuria—and tell us about his daughter, Denise, who was born in 1958, before newborn screening, and whose PKU was diagnosed late. Despite the best efforts of Norman and his wife, Denise’s development suffered and she disappeared off the radar of the NHS. She still requires a huge amount of care, because her condition was not recognised from birth. That story speaks to so many rare diseases and to the need to get the implementation of this framework right.

It is a pleasure to serve under your chairmanship, Mrs Miller. I congratulate the hon. Member for Blaydon (Liz Twist) on securing this important debate.

Motor neurone disease is a devastating and rapidly progressing neurological condition that leaves individuals unable to walk, talk, eat and, ultimately, breathe. It is a rare disease in this sense, because sadly one third of people die within one year of receiving their diagnosis, but at present one in 300 people will develop it in their lifetime.

There is currently no cure, but as chairman of the all-party parliamentary group on motor neurone disease, I have had the privilege of hearing about the pioneering research that is under way to find effective treatments. Huge progress has already been made, particularly in terms of understanding which genes cause the disease and of subsequent pioneering gene therapy trials such as that conducted by Professor Chris McDermott at the University of Sheffield.

It would be disappointing, when scientific advancements are at their most promising, to see Government funding for MND research plateauing. Although charities have picked up the shortfall, this source of funding is under more pressure than ever because of covid-19. In this context, the Government’s recent announcement of the rare diseases framework provides a welcome and much needed opportunity. It is encouraging that one of the framework’s key priorities is to improve access to specialist care, treatment and drugs, and that one of its underpinning themes is to encourage and support pioneering research into rare diseases. Key to successfully delivering this will, in part, be the completion of ongoing NICE methods and a process review changing how we access new medicines. It will also come from close partnership between the devolved Administrations and the voluntary sector, which is already working to support pioneering research.

In the same vein, MND Scotland and My Name’5 Doddie Foundation are asking the Government to consider investing £50 million over five years to establish a virtual MND research institute. It would be designed to create a world-leading drug discovery and development programme, to establish a sustainable MND trials platform and to implement a rigorous clinical research programme. The institute and the funding would help the national and local delivery of this new framework’s key aims of improving the lives of those living with MND and embedding personalised care in the UK healthcare system. I thank the Government for the support they have already shown, and I look to them for more regarding the research institute.

It is a great honour to serve under your chairmanship, Mrs Miller. I congratulate my hon. Friend the Member for Blaydon (Liz Twist) on securing the debate and on her excellent opening speech. The rare diseases framework is welcome, but in order to deliver on the vision it is important to reflect on the experiences of those with rare diseases over the past year.

I chair the all-party parliamentary group on muscular dystrophy, and last month our meeting brought together people living with muscle-wasting conditions, leading health professionals and charities representing relatives to discuss the impact of covid-19. It came after a month-long survey conducted by Muscular Dystrophy UK to assess the impact of covid-19 on people living with muscle-wasting conditions and their families and the effect on accessing healthcare services. There were over 400 survey responses and they were very concerning. The comments made at our APPG meeting backed up many of the survey’s findings.

We heard that the delivery of standard care had been put on hold and essential services were interrupted, and that it was proving very difficult to regain muscle strength after losing six months to a year of physiotherapy. Some had experienced diagnostic tests being put on hold as resources were diverted because of the pandemic and a number of clinical trials were also halted. Worryingly, the physical and mental impact of shielding has left many people reluctant to go out even to hospitals when restrictions are relaxed.

Our APPG also considered what might happen when restrictions are relaxed and we return to some kind of normal life. Infrastructure challenges for service provision still remain, and there is concern about if and when staff and resources redirected to covid-19 will return to neuromuscular services. Virtual clinics have had a positive impact and there are benefits to be taken forward of continuing these for some people, especially taking into account issues such as long travel times. However, not everything can be assessed or picked up virtually. Routine face-to-face appointments are still critical.

Members of the APPG are always grateful for the support of our secretariat Muscular Dystrophy UK, medical professionals and those with muscle-wasting conditions. On their behalf, I ask the Minister to outline how the action plans for the framework will learn from patient and health professional experiences during the pandemic, and will also shape the priorities for accessing essential specialist care and mental health support.

I thank the hon. Member for Blaydon (Liz Twist) for securing this important debate on the challenges faced by people living with rare diseases. I am delighted to have the opportunity to speak about phenylketonuria, which has been mentioned already, and to put on record my own concerns about access to treatment for this condition, including the drug Kuvan.

I am raising this issue on behalf of constituents who have been in contact with me about it. In particular, I am grateful to Leanne Barnett for meeting me to discuss the impact that PKU continues to have on her twin daughters, who were born with the condition, and on the family as a whole. I really appreciated gaining an understanding of the extraordinary challenges of living with rare diseases such as PKU, and I believe that Leanne’s case illustrates the problems that many people face, which are unacceptable problems in a modern society.

I will not go into the details of the condition, but we know that the main treatment available at the moment is a strict low-protein diet. For anyone who is a parent of young children, babies or toddlers, managing any diet is challenging, but managing a diet with low protein is extremely difficult. Everyday life becomes filled with anxiety, putting incredible strain upon the parents, who know that one mistake might cost the child their life or lead to brain damage. Leanne explained to me that

“PKU life can feel extremely isolating as the condition is so rare. It’s exhausting having to explain the condition and even then most people think it’s just a food allergy”.

She told me that managing her daughters’ diets is

“difficult and time consuming to manage and almost impossible to adhere to well enough for optimum treatment”.

She explained that, as her daughters grew, she would have to

“measure and monitor everything they eat, restricting the amount of natural protein they consume, which was really…stressful”.

This dietary treatment can also be incredibly costly for families, particularly if they are on a low income, which is a real barrier. The drug Kuvan, having been licensed to treat PKU back in 2008, has not been available to patients in the UK, except in limited circumstances.

NICE has published its preliminary assessment on the use of Kuvan, recommending its use for children up to the age of 18, which is welcome, but not necessarily its use for people over 18. I say to the Minister that this is a lifelong condition and therefore we need lifelong treatment of Kuvan on the NHS. Anything less than that will cause enormous distress for those young people with PKU who are making the transition to adulthood, so I urge the Government to consider placing Kuvan within the framework as a priority for the future.

It is a pleasure to serve under you as Chair, Mrs Miller. I was not aware of the rare metabolic disorder phenylketonuria, or PKU, until my constituents with PKU explained that it prevents them from metabolising phenylalanine, or PHE, which is an amino acid in protein foods. The standard treatment is a low-PHE diet, removing almost all natural protein and replacing it with prescribed medical dietary proteins to ensure adequate nutrition.

The PKU dietary regime is very complex, very restrictive and very difficult to manage. I joined the all-party parliamentary group on phenylketonuria, which was formed by my hon. Friend the Member for Blaydon (Liz Twist), and became vice-chair. I congratulate her on securing another PKU debate today. The National Society for Phenylketonuria, a charity set up in 1973, is remarkable. It has no premises and no full-time staff, but is run by wonderful volunteers with personal experience of PKU.

Managing PKU is extremely demanding. Every meal, snack and drink must be planned in advance. People with PKU and their families spend on average 19 hours every week preparing their diet. Many of them have applied for personal independence payment, which is assessed on the basis of how much help is needed with ordinary daily living activities, one of which is managing therapy or monitoring a health condition.

The Department for Work and Pensions has not accepted that the PKU diet is a therapy, so many people, including my constituents, have been denied the daily living activities component of PIP, even though they need hours of help from relatives every week to manage their diet. However, in 2020 a tribunal decided that the PKU diet qualifies as a therapy, following a legal challenge by a 21-year-old man whose PIP application had been refused by the DWP. He appealed to the first-tier tribunal, but it agreed with the DWP that his PKU diet was not a therapy. He appealed again to the upper tribunal, which found that the first-tier tribunal should re-examine his case, because the reasons it gave for reaching its decision were not adequate. The case re-examination found that his PKU diet was a therapy under PIP criteria, because he needed more than 14 hours of help per week and therefore met the criteria to qualify for PIP, and should receive £87.65 per week. That is good news, but it remains to be seen whether this will govern future DWP decisions about PKU. I sincerely hope that it will, to help the brave PKU sufferers who struggle every minute of every day to live with such a challenging rare metabolic disorder.

It is a pleasure to serve under your chairmanship, Mrs Miller. I congratulate the hon. Member for Blaydon (Liz Twist) on securing the debate. It is a welcome debate and an opportunity to discuss those rare diseases that, by their very nature, do not have the large advocacy organisations to speak about them. This week I received a mailshot from one of the UK’s leading cancer charities. While that is a welcome and worthwhile effort, rare diseases—those that affect fewer than one in 2,000 people—do not have those resources and it is important that we speak about them.

I welcome the publication of “The UK Rare Diseases Framework”, which has four priorities. I will speak briefly on priorities 2 and 4. Priority 2 is to increase awareness of rare diseases among healthcare professionals, which I think is crucial. I am co-chair of the all-party parliamentary group on axial spondyloarthritis, which is not a rare disease—it affects one in 200 people—but the eight-year delay in diagnosis has been attributed, in part, to a lack of knowledge by healthcare professionals. I fully support any increased awareness of rare diseases.

Priority 4 is to improve access to specialist care, treatments and drugs. As others have said, I have seen that myself with phenylketonuria, which I had not heard of until I met the parents of Hurley, one of my youngest constituents. They came to see me to discuss Hurley’s condition. PKU affects fewer than one in 10,000 babies. As we have heard, it means that the body cannot process protein, which results in a severely restricted diet.

The drug Kuvan has been available but was not widely licensed despite promising results. I welcome the news that Kuvan is now available, but it is not available for over-18s. That causes understandable concerns not only for adults, but for those in their late teens who are approaching a point when their treatment will become unavailable. I will add my name to those calling for the wider licensing of Kuvan for those with PKU.

This is a welcome debate and there is a responsibility on all MPs to speak up for their constituents who have rare diseases, to make their case heard. I look forward to continuing to do so with colleagues.

Order. After the next speaker, I will move to a two-minute time limit, in an attempt to get more speakers in.

It is a pleasure to serve under your chairmanship, Mrs Miller. I pay tribute to my hon. Friend the Member for Blaydon (Liz Twist).

PKU is a disease that leaves people unable to break down protein. It can lead to severe brain damage. Kuvan is a life-changing drug that can help people cope with PKU. NICE’s decision to offer Kuvan only to patients up to the age of 18 is wrong. There is no miraculous cure for PKU when patients turn 18.

The transition to adulthood is a tough time already; 18-year-olds are moving away from school and often away from parental support, whether attending university, beginning an apprenticeship or starting a career. It is a difficult time. NICE’s decision strips young people of a life-changing drug when they are at their most vulnerable. Giving patients Kuvan and then taking it away turns an 18th birthday into a day of dread. Never mind the joy of a Greggs sausage roll, PKU patients cannot even grab a healthy salad or a vegetarian sandwich. The disease requires an exacting regulation of food intake.

I met Liam, a 20-year-old constituent who has PKU. The first thing that struck me was Liam’s mother bringing him bags of special ingredients. Careful planning is essential. Everything is homemade and all the ingredients have to be measured out, for Liam’s safety. Preparing the food is a full-time job. Liam has never had Kuvan and is in his second year at university studying policing. He is planned and worked hard to contribute to society, but he fears that without Kuvan this would not happen. There are hundreds like Liam who want to make a positive contribution. I asked him for his thoughts on the decision. He said:

“The overwhelming feeling right now is one of betrayal. We have spent 12 years fighting for this drug, seeing it within our sights, our hopes finally rising at the prospect of receiving such a life changing drug, only to have it snatched from us.”

I ask BioMarin and the Government to put people like Liam at the forefront of their decision making. People are being denied the quality of life that is possible and that they deserve.

It is a pleasure to serve under your chairmanship today, Mrs Miller. It was also a pleasure to listen to the hon. Member for Blaydon (Liz Twist), who opened this evening’s debate. She has been a tireless campaigner for those who suffer from phenylketonuria and I congratulate her on securing this important debate.

One in 10,000 babies across the United Kingdom is born with PKU. That rare inherited disease means that individuals cannot break down phenylalanine. If the condition is untreated, it can lead to damage of the brain and nervous system. Sadly, a number of my constituents suffer from the disorder, including, as I learned today, a three-month-old infant. I thank Samantha Parker, Kelly Thompson and Amy Duston, who suffer with PKU or have a child who does, for their engagement with me.

It was a bittersweet moment last month when NICE released its draft recommendation that, following discussion with the manufacturer of Kuvan, it could be used for children up to the age of 18. It was bittersweet because it means that as those children turn 18 they will face a cliff edge in their treatment. I fear that NICE has not fully considered the problem of an 18-year-old abruptly stopping treatment with Kuvan. The decision will lead to further difficulties down the line, and it does not address the treatment of adults with PKU.

I am hopeful on three counts for my constituents. I am optimistic that children will soon be able to access that life-changing drug, that NICE will reconsider the use of Kuvan for adults, and that as the exclusivity of Kuvan to BioMarin comes to an end it will become cheaper and more cost-effective as a treatment for all who suffer from PKU.

I, too, congratulate my hon. Friend the Member for Blaydon (Liz Twist) on securing the debate. I chair the all-party parliamentary group on life sciences and want to raise a couple of wider points. I am grateful to the Association of the British Pharmaceutical Industry and the UK Bioindustry Association for advice.

We are all familiar with the figure of Sir John Bell on our television screens, but in the current circumstances would the Minister tell us a little about the status of the life sciences industrial strategy and sector deal? It seems that the industrial strategy has gone by the wayside. What is going on? Will she also tell us how the various initiatives, including the NICE methods review, the innovative medicines fund and the recently published commercial medicines framework will work together to support access to medicines for rare diseases?

There has been a long-running issue around the NICE process review in relation to the single technology appraisal programme, which many feel is not very suited to the specialised medicines world. It led to the highly specialised technologies programme, but there is a continuing gap between the two, and perhaps she can shed some light on that.

Professor Lucy Raymond was professor of medical genetics and neurodevelopment at the department of medical genetics in Cambridge, and has welcomed me on Rare Disease Day in previous years. She made a couple of important points, saying that despite the welcome work done by the 100,000 genomes project at such places as the Wellcome Sanger Institute, there are still long delays, and testing is limited by resources and NHS England funding. Secondly, there is the question of making sure there is sufficient access to clinical trials. Professor Raymond suggests that as we have a limited number of nationally funded genomic laboratories, it could be possible to introduce a statutory obligation to notify, which would produce a bigger group for clinical trials.

Finally, on the question of our relationship with the European Union, what progress has been made on developing a rare disease trial protocol?

It is a pleasure to serve under your chairmanship, Mrs Miller. I draw attention to my entry in the Register of Members’ Financial Interests.

NICE was established to determine cost-effectiveness, and it quickly became the best at this in the world. Given the pandemic, the importance of the life sciences sector to our country has never been clearer. If we want to retain our global reputation, however, NICE needs to alter the way it works. The rare diseases framework should be seen in this context. Its themes of pioneering research and being a global player are the right ones. I am encouraged that NICE recognises the challenges we face. That said, I am not yet convinced that NICE has got to the right place on the detail. Unless we get it right, we risk reducing the number of new medicines arriving to treat patients.

Within the framework, priority 4 is all about improving access to specialist treatments. The review has identified the need to change and update the discount rates, but less helpful are the suggestions in the current process review consultation on how we evaluate new health technologies. Essentially, there are two routes: the regular single technology appraisal process; and the highly specialised technology option, which is far more flexible. Medicines for rare diseases need that flexibility and the higher threshold for cost-effectiveness. If they do not meet the HST criteria, new technologies are stifled. NICE is risking needlessly complex and convoluted criteria that will not allow for transparency on why particular medicines are put into the programme. I hope it will register the concerns expressed by the ABPI and others.

The Medicines and Healthcare Products Regulatory Agency is talking about new pathways to licences. Such work needs to be joined up and supported by NICE’s processes. Early engagement is positive, but NICE must avoid premature decisions, including about the commercial aspects and pricing.

To ensure that we can get all Members in, the Minister has very generously given some of her time, so I hope that I can bring in every Member on the list.

It is a pleasure to serve under your chairmanship, Mrs Miller. I congratulate my hon. Friend the Member for Blaydon (Liz Twist) on securing this important debate and on her excellent opening speech.

As chair of the all-party parliamentary group on sickle cell and thalassaemia, I know that this subject is of great interest to people with thalassaemia. I will focus my speech on one of the four high-level priorities of the framework: improved access to specialist care, treatment and medicine. People with rare diseases say that the tantalising prospect that one day there will be a cure for the rare diseases affecting them is something that gives them hope and huge motivation, and that drives them to campaign passionately for the development, and then approval, of that medicine or therapy. When it comes to assessing the effectiveness of such drugs or treatments for rare diseases, however, the approach taken by NICE leaves a lot to be desired.

Recently, NICE gave a provisional negative appraisal to a ground-breaking gene therapy treatment that would have eliminated the need for the chronic treatment of many people with a severe form of thalassaemia. One of the contentious issues with NICE’s assessment has been the inflexibility of the arbitrary discount rates. The small number of people with rare diseases means that there is often insufficient evidence available to satisfy NICE’s assessors. I note that NICE has undertaken a methods review process in which the discount rate is a key area of potential reform, which I very much welcome. Additionally, I want to ask NICE to take greater account of the testimony from patients, because only by understanding patients’ lived experience can a committee properly assess the effectiveness of a drug or treatment.

For people with rare diseases such as thalassaemia, the approval of a drug or treatment can be the difference between life and death. It is imperative that we get this right, and that means things have to change quickly. We need the implementation of an action plan for the rare diseases framework, and we need it now.

It is a pleasure to speak with you in the Chair, Mrs Miller. I wish to speak about neurofibromatosis, which for obvious reasons is more commonly known as NF1. As far as rare diseases go, it is pretty common. It affects one in 2,700 people born today, and it is more common than cystic fibrosis, Duchenne muscular atrophy and Huntingdon’s disease put together. I particularly want to echo the words of the hon. Member for Blaydon (Liz Twist), who made an excellent opening speech, and I really appreciate the opportunity to speak on these issues.

My focus is on diagnosis and monitoring. I came across NF1 because the Watts family in my constituency had a son, Chris, who had the condition since he was born. He was 31 when he took his life, having managed to pursue a career and live independently. The thing about NF1 is that it can be mild, but then it can become quite severe. He had a tumour that started to grow and was painful, but he was nevertheless told, “Nothing to worry about; it’s cosmetic.” Sadly, it ended up being malignant and he passed away. I think this illustrates the fact that we have a divided approach to NF1. It is seen as either complex or non-complex. For non-complex, there is very little monitoring of what happens, even though it can become complex, and there is very little treatment for the complex conditions other than a couple of specialist treatment centres in London and Manchester. However, there is no clear pathway for one assessment—the non-complex to the complex.

I am very grateful to Vanessa Martin at the Childhood Tumour Trust. They have set up some simple changes they would like to see, and I urge the Minster to engage with them to implement those changes.

Thank you, Mrs Miller, for chairing this debate. I thank the Minister for allowing us to get in.

Whatever the rare disease, it cannot be right that families are spending their time and energy fighting for treatments when they should be spending precious time with their children. I congratulate my hon. Friend the Member for Blaydon (Liz Twist) on securing this debate, and I echo the concerns about Kuvan, particularly the recommendation for its use only by children. One of my constituents whose daughter is living with PKU raised very legitimate concerns with me about the detrimental impact this could have on the mental health of children and teenagers whose lives are transformed by this drug, but know the clock is ticking towards it being taken away from them as they turn 18.

One of the themes underpinning the UK Rare Diseases Framework is patient voice, which the Department for Health and Social Care says is essential to its implementation, and I could not agree more. However, we must understand that there is a long way to go before families coping with the impact of rare diseases truly feel valued by the system. Gail and Matthew Rich from my constituency fought a long campaign that I supported to access Brineura on the NHS for their daughters Nicole and Jessica, who have CLN2 Batten Disease. Ahead of this debate, Gail told me:

“Patients and parents are not included or listened to enough, and children are suffering as a result of following an antiquated system which seems all about number-crunching and balancing figures rather than what is essential and morally acceptable.”

Those affected by rare diseases too often feel that they are struggling alone, so as we move from publication of the UK Rare Diseases Framework to the development of action plans, I urge the Minister to ensure that patient voices are truly heard, and positive outcomes reflect patient needs, not just those of the healthcare system.

I, too, extend my congratulations to the hon. Member for Blaydon (Liz Twist) on securing the debate and my gratitude to the Minister for the extra time.

The devolved nature of health and the need for proper planning and co-ordination between the nations of the UK have been brought into sharp focus as a result of the covid-19 pandemic. For people living with rare diseases, planning and co-ordination within health systems is key, as they face additional barriers to receiving a diagnosis and treatment, compared with those people who are suffering more common illnesses. In Wales, around 175,000 people will be affected by a rare disease at some point in their lives. A Welsh action plan that commits to proper joint working and collaboration between the four nations will be imperative in ensuring the best outcomes for people living with rare and genetic conditions in Wales.

That should involve data sharing between Wales’s Congenital Anomaly Register and Information Service and other rare diseases registries in the UK to help researchers identify non-genetic rare diseases that are not picked up through screening and genomic testing. It would also involve better cross-border co-ordination for care and treatment between Wales and the other nations, including education for clinicians and healthcare staff.

There is a question as to how the Welsh plan will integrate with health entities with a UK-wide remit, and challenges associated with decision making. I urge all national Governments to commit to publishing their action plans within 2021 so that we avoid delays in implementing the framework, to ensure that there is equitable treatment for those living with rare conditions.

I would like to mention my constituent Mark Edwards of Llanegryn, who has proved to be such an excellent ambassador for PKU, and to add my voice to the call for wider licensing of Kuvan.

Thank you Mrs Miller. It is a pleasure to serve under your chairmanship. Congratulations to the hon. Member for Blaydon (Liz Twist) on securing this important debate; she is a doughty fighter.

Around 437,000 people in Scotland have a rare disease. It is therefore important that the NHS and other services provide this large and diverse patient population with the best possible care. The UK Government published the new UK Rare Diseases Framework in January, listing the priorities and underlying strategic themes and detailing how the four nations of the UK will address the challenges faced by those living with rare diseases.

As part of that ongoing commitment and with the support and advice of the rare disease strategic oversight group, the Scottish Government published their final progress report, which assesses the implementation and progress against the 51 commitments in the UK strategy and their own implementation plan, “It’s Not Rare to Have a Rare Disease”.

In developing a new action plan for Scotland, the Scottish Government will work closely with the rare disease community to ensure that their needs are appropriately reflected across wider Government policy too, including mental health and social care, that all the commitments are actionable and measurable, and that the patient voice remains at the heart of the new action plan. The Scottish Government will establish a new rare disease implementation board to oversee the action plan and further details will be in the action plan due to be published this year.

Recognising a gap in Scotland’s population health charter, work is now well under way and established on a national congenital anomalies register for Scotland—CARDRISS. Once fully established, it will register babies affected by a major structural or chromosomal anomaly or recognised syndrome.

While the congenital anomalies register is still being developed, a great benefit has already been seen just by linking historical datasets to provide, for the first time in Scotland, a record of congenital anomalies. The dataset and the register are beginning to help inform the planning of services for individuals and families affected by congenital anomalies and rare diseases. Once the register is live, it will also allow NHS Scotland to support the prevention of anomalies where possible, understand the impact of antenatal screening and support research.

The Scottish Government have also made great progress in delivering genomics medicine in Scotland. An allocation of £4.2 million over a two-year period by the Scottish Government supported the transition of genomic testing of inherited rare disease from the research setting into regular genetic testing services. As a result, more families have been able to get the right genetic test and receive an often long-awaited diagnosis, enabling them to get the support and treatment they need. A well-established network of clinicians and clinical scientists has been delivering evidence-based genetic testing for NHS Scotland patients for more than 30 years. Continuing advancements in genomics medicine improve a range of factors for rare disease patients, including diagnosis, access to treatment and co-ordination of care.

In Scotland, access to new medicines for rare, very rare and end-of-life conditions is significantly increased through a new ultra-orphan medicines pathway, introduced in October 2018, ensuring that those with the rarest diseases will get faster access to new treatment where appropriate. In the light of the benefits seen from the use of genomic medicine, the Scottish Government are increasing their investment in this area to £2.3 million, as announced in the new Scottish Budget. The investment will support the implementation plan and the plan will set out actions aligned with the three pillars in the strategy—diagnosis and personalised medicine, prevention and research. The Scottish Government will work closely with NHS Scotland laboratory genetic services to continue their approach to embed genomics in routine healthcare. Families and patients need to know that wherever they live in the UK, their Government are committed to the framework and to making it work. Does the Minister agree?

It is a pleasure to serve under your chairmanship, Mrs Miller. I congratulate my hon. Friend the Member for Blaydon (Liz Twist) on securing the debate, and on the case she made and her inspiring work championing those with rare diseases through the all-party parliamentary groups that she has chaired, currently the APPG on rare, genetic and undiagnosed conditions and previously the APPG for phenylketonuria. She set out a very strong case. She started by saying that we have been here before. If we followed some of the suggestions that she made, it would make sure that we are not here forever.

I want to pick up on the point around childhood screening. I hope the Minister will address the points on the report and the outcome of the strategy. That learning is really important.

It is hard not to be struck by the wide range of conditions that colleagues raised—NF1, raised by the hon. Member for Thirsk and Malton (Kevin Hollinrake); thalassaemia, raised by my hon. Friend the Member for Enfield, Southgate (Bambos Charalambous); motor neurone disease, raised by the hon. Member for Northampton South (Andrew Lewer); and muscle wastage, raised by my hon. Friend the Member for North Tyneside (Mary Glindon). The right hon. Member for Kingswood (Chris Skidmore) and the hon. Members for Gedling (Tom Randall) and for Darlington (Peter Gibson) raised PKU, as did my hon. Friends the Members for Neath (Christina Rees) and for St Helens South and Whiston (Ms Rimmer). They made important points around welfare reform and the accessibility of Kuvan.

I hope that the Minister will also cover the more general points around NICE, made by the hon. Member for Peterborough (Paul Bristow) and on the life sciences sector deal, made by my hon. Friend the Member for Cambridge (Daniel Zeichner).

The debate tells us that while rare diseases are rare individually, collectively they can affect up to one in 17, so they are not rare at all. That is more than 3.5 million people in the UK. We will all know someone with a rare disease and we will all have constituents for whom we need to advocate. Rare diseases can be life-limiting and life-threatening. As was mentioned, three quarters of them affect children, and sadly more than 30% of children with a rare disease die before their fifth birthday. That is a truly heartbreaking statistic. With that in mind, we welcome the Government’s plans, but I want to test some of the detail.

On the first priority relating to diagnosis, I am keen to know what the Government’s plans are in greater detail. Will the scope of newborn screening in the UK be increased? Many countries screen for more than 20 conditions; indeed, Iceland and Italy screen for more than 40. Here in the UK, we screen for nine. Will that be revisited? How do the Government intend to measure success in diagnosis more broadly?

On the second priority, awareness, we need to skill up our wonderful healthcare professionals. I find that, whoever I speak to—especially those whose diseases were not diagnosed at a very young age—lack of awareness often prevented diagnosis and access to the correct treatment and care pathways. A couple of weeks ago I met a wonderful group of people from the Pernicious Anaemia Society who do great work for people struggling with pernicious anaemia. As we went around the room—virtually, of course—it was striking that everybody had been diagnosed with something different at some point, and often multiple things, incorrectly. What will we do about that? Do the Government intend for rare diseases to have a larger part in undergraduate courses? Will they be part of continuous professional development for already qualified medical professionals? More importantly, because there is no new money with this strategy, from where will the resourcing come to increase training and develop additional tools?

I want to touch on priorities three and four on improved co-ordination and access to care treatment and drugs. I will lean less on the latter, which was covered by others, but, on priority three, well co-ordinated care is crucial to patients and their families. Last year, a Genetic Alliance UK report found that more than 70% of respondents were responsible for their own or a family member’s care. That means reduced work—or giving up work—and reduced education and other opportunities that the rest of us take for granted. We need a family-centred holistic and equitable approach to care. It would not change everything, but it would make their lives much better. Again, I know the Government have committed to that, but how will they measure progress?

Finally, on understanding the action plans, health is devolved and it is important that we take the different nations approach, but when do Ministers intend to hear back? When do they think they will hear back? What will we do to ensure that the care pathways are properly co-ordinated?

I will finish there to give the Minister a chance to address all the points raised. This has been a great debate, and hopefully those with rare diseases, who do not always think their voices are heard, will feel that today they have been heard and not missed or forgotten. If we come together, we can do something really special in this space.

It is a pleasure to serve under your chairmanship, Mrs Miller. I am afraid that I have been asked a huge number of questions. The shadow Minister just said he hoped I could answer them, but I am afraid that is not going to be possible. However, I will write to the hon. Member for Blaydon (Liz Twist) and answer her questions in detail. I congratulate her on securing this important debate. I think someone described her as a doughty campaigner, and I pay tribute to her tireless work championing the rare disease community as chair of the all-party parliamentary group on rare, genetic and undiagnosed conditions. I will try to answer a few of the points in the short time that I have and I will write on the rest.

First, I will answer a more general point. Many hon. Members brought up the drug Kuvan, which is indicated to reduce blood phenylalanine levels in patients with phenylketonuria. PKU is an inherited metabolic disorder. NICE published draft guidance on 25 February recommending Kuvan for people with PKU who are under 18. Hon. Members have quite rightly acknowledged that when children and young people reach the age of 18, that is a problematic step.

NICE’s draft guidance is a huge step forward for children who stand to benefit from Kuvan as a treatment, but I understand that it will be disappointing for adults. It is important to stress that this is not the final guidance. NICE will carefully consider all comments received during the recent consultation. The Government encourage the company to continue working with NICE, NHS England and NHS Improvement to ensure that Kuvan is priced affordably, so that more patients may benefit. That is a sort of round-robin answer to a number of the questions that have been asked.

I would like to pick up the first question that the hon. Member for Blaydon asked about the report to be published on the outcomes of the UK strategy for rare diseases. We have published yearly updates on the UK strategy for rare diseases implementation plan. Those updates highlight areas of progress and ongoing action against the commitments described in the strategy. The Department is constantly engaging stakeholders to learn what has worked in the strategy and the implementation plan.

We are constantly engaging and looking for areas of improvement, and we took the learnings into consideration when we developed the UK rare diseases framework. The framework builds on the previous strategy, outlining clear, concise and actionable priorities that were developed in close collaboration with the rare diseases community, including patients themselves.

The shadow Minister asked about screening newborns in the UK. As part of our screening improvement programme, the Department is considering how better to integrate targeted screening of high-risk groups in our population-based screening programmes. The chief medical officers of the UK have established a screening advisory working group to consider the scope and remit of the single screening advisory body proposed by Professor Sir Mike Richard. We have committed to making better use of technology to develop a more personalised screening offer, including important genetic testing, inter-screening and diagnostics. In the 2019 report, “Generation genome and the opportunities for screening programmes”, the UK National Screening Committee concluded that there is “clear potential” for genomics in the testing for many of the conditions currently included in the blood spot test. I think that all of us here today would agree on one fact: screening and medical science are moving forward at a rapid pace.

Only last month, we marked Rare Diseases Day. We have heard many touching stories today from Members, but last month we also heard many touching stories and how rare diseases, including PKU, can have an impact on patients and on their family members. As many Members of this House know, while rare diseases are individually rare, they are collectively common: one in 17 people is affected by rare disease at some point in their lifetime. In the UK, that amounts to more than 3.5 million, which is a significant group of people.

I am sure that the hon. Member for Blaydon would like to respond to the debate, so I will end. We will write to her with detailed responses to her thoughtful and detailed questions. I hope she will be able to share that information with the rest of the people who have spoken.

I thank the Minister and all hon. Members who took part in the debate. The diseases we have mentioned—motor neurone disease, muscular dystrophy, PKU, thalassaemia, neurofibromatosis and Batten disease —are all important, but there are so many more rare diseases that we could have mentioned. I look forward to the Minister’s detailed reply, and I will certainly circulate it to all those Members who have taken part today.

Question put and agreed to.


That this House has considered the implementation of the UK Rare Diseases Framework.

Sitting adjourned.