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Jim Shannon (Strangford) (DUP)
I beg to move,
That this House has considered innovation in the field of rare retinal disease.
It is a real pleasure to serve under your chairship, Dame Siobhain. I very much look forward to the contribution of the Lib Dem spokesman, the hon. Member for Torbay (Steve Darling). I think his contribution will be a personal one and important to the debate. I am pleased to see the shadow Minister, the right hon. Member for Melton and Syston (Edward Argar), in his place, and I look forward to his contribution. I am also pleased to see the Minister here. I have given both the shadow Minister and the Minister my speech with my highlighted comments, as requested. I thank the hon. Members for Leicester South (Shockat Adam) and for Doncaster East and the Isle of Axholme (Lee Pitcher) for coming along.
I thank the Backbench Committee for granting the debate. I am aware that it is niche, because only 25,000 people across this great United Kingdom of Great Britain and Northern Ireland suffer from the condition, but it affects 25,000 people and 25,000 families. As one who has tried to promote rare diseases on every occasion, I asked for this debate; the Members in the Chamber today have a particular interest.
As the wearer of glasses since the young age of eight, which was not yesterday, I am thankful that the issues with my eyes are easily diagnosed and treated. My annual appointment with Mackey’s opticians in Newtownards keeps me right. It was with their help that I realised I had type 2 diabetes. With diabetes, we have to be a wee bit more careful with eyesight issues.
I remember going to an event in Cambridge, where I got my eyes tested on one of the new machines they had. A guy came up to me and said, “Jim, when was the last time you got your eyes tested?” I said, “I get them tested every year.” He said, “Well, here’s my read-out. Take it back to your optician.” I took it back, thinking I had glaucoma. My dad had glaucoma, so I was rather worried. I was probably a wee bit perturbed because I had been to my opticians a few months before and was not aware of anything. I went to my optician and she said, “Jim, do you want to do the big tests?” We did the big tests up in Belfast. They did everything that they could possibly do with my eyes, and thank goodness I did not have it. The point I am making is that it is really important that eyes are tested regularly.
There is a well-known saying that the eyes are the window to the soul, and so they are, but they also are an indication of overall health and therefore eye care is as vital as any other part of our national health. The hon. Member for Torbay and I talked before the debate. Chris McCausland, who did “Strictly Come Dancing”, has a rare retinal disease but look at what that man can do—his sense of humour, as a comedian, and his talent. He whizzed round the floor better than someone with full eyesight. He inspired the nation and rightly won.
Although rare diseases are individually rare, they are collectively common, with one in 17 people affected by a rare disease at some point in their lives. In the UK that equates to approximately 3.5 million people and 110,000 in Northern Ireland. My interest in rare disease goes back to the Northern Ireland Assembly where I served for 12 years before coming here. This debate today will focus on a niche rare disease, and specifically on rare diseases relating to retinal diseases that lead to sight loss.
Inherited retinal dystrophies—IRDs—is the collective term used to describe inherited sight loss conditions that occur when cells in the retina deteriorate in an unpredictable way. I will talk about research and development because that is really important. IRDs are the most common cause of blindness in children and working-age people in the United Kingdom of Great Britain and Northern Ireland. Although the conditions are rare, with some 25,000 people affected in the UK and 600 in Northern Ireland—some are my constituents, which is why I have introduced the debate—the impact on the people living with them is significant. When I ask people which sense they would not want to lose, they always say sight, because the eyes are the window to the world and to the soul—they help people appreciate what is around them. Although the other senses are also important, when someone loses their sight, they almost entirely lose the ability to know what is happening around them.
People living with rare retinal conditions not only face challenges in their day-to-day life caused by sight loss, but experience the added challenge of living with a rare condition and the impact it has on them and their families. That includes delays and complexity in getting a diagnosis. I know the Minister is always happy to respond positively and I look forward to her comments on how we can hurry up, or make easier, the process of getting a diagnosis.
Living with a rare condition also presents challenges in accessing treatment and specialist care. There is also a lack of awareness of these conditions. Some 95% of rare diseases currently lack an approved treatment and the existing standard of care for rare retinal diseases is equally limited, meaning there is high unmet clinical need. I will go into the National Institute for Health and Care Excellence’s process at the end of my speech, since it relates to my major request. Others will add their contributions as well.
The dual-pronged burden on patients with rare retinal disease means supporting access to new innovations that can improve the diagnosis, treatment, and care for these conditions. That should be a priority for the Government and their relevant agencies. Sight is the most important sense among adults in the UK, with 88% of people ranking it as their most valuable sense in a recent study published in JAMA Ophthalmology.
According to a report by Deloitte, the estimated total cost of IRDs in the UK is £523.3 million, a massive total, showing the importance of the debate. The total includes wellbeing costs of £196.1 million and total economic costs of £327.2 million, of which productivity costs affecting those of working age are £114.1 million and informal carer costs are £84.5 million. Those statistics support the necessity of the debate and highlight the importance of having a ministerial response on the Government’s stance on the issue.
New innovations that represent a step change in the standard of care for people living with rare retinal diseases are on the horizon, which we have to be prepared for. At the centre of this is a shift toward personalised medicine made possible by recent advances in cell and gene therapies, a transformative class of medicines described by the Minister of State for Science, Research and Innovation, Lord Vallance, as a “new era of cures”. I hope this is where we are going. CGTs are highly specialised types of treatment that aim to treat the root cause of diseases and disorders by augmenting, repairing, replacing, or regenerating organs, tissues, cells, genes, and metabolic processes in the body. Often one-off treatments, they can deliver potential benefits over the course of a patient’s lifetime and therefore represent a step change in how we treat disease. The families, as well as the people who have the retinal disease, are in the middle of that process and experience all the angst that comes with it as well.
Access to new innovations and treatments for rare diseases, termed “orphan medicines”, is a challenge across all healthcare systems. Smaller patient populations along with complex and difficult diagnoses can mean the cost of developing new treatments is higher, compared with treatments for more common diseases, and there can be more uncertainty in the evidence base generated from clinical trials.
In a study on social attitudes to rare diseases, 82% of participants felt that NICE should evaluate the cost-effectiveness of treatments for rare diseases differently from more common diseases, taking into account the additional challenges in developing medicines for rare diseases and, of course, looking at rare diseases overall. It is therefore vital that the regulatory or assessment bodies factor in those considerations when making decisions on whether to approve new treatments or new innovations for rare retinal diseases.
I will now try to develop an argument on one of my other asks. In England, the assessment body for medicine, the National Institute for Health and Care Excellence, has two medicine appraisal pathways: the standard technology appraisal pathway and the highly specialised technology pathway. That is, perhaps, the central core issue of the debate. In Northern Ireland, the Department of Health considers and endorses technology appraisals undertaken by NICE, but, whatever the NICE approvals are here, the Northern Ireland Assembly and the Health Department follow its indications and directive—whatever happens here comes to us. We will be the beneficiaries of NICE recommendations in Northern Ireland, so the debate is really important for me both as the DUP’s health spokesperson and as a Member representing a constituency in Northern Ireland, where health is a devolved matter.
Treatments for very rare diseases have traditionally struggled to get approval from NICE when routed through this standard technology appraisal pathway, which is not designed to factor in the additional uncertainty associated with rare disease treatments; we have a big ask in relation to that, Minister. It is therefore vital that the higher specialised technology appraisal pathway can enable timely patient access to treatments for rare diseases.
NICE is conducting a review of its HST programme criteria for determining what treatments are assessed by the HST pathway. The aims of the review, which are welcome, are to ensure more consistent, predictable and transparent decisions, but there are definitely concerns that the refinements proposed by NICE in its consultation may in fact narrow the number of future treatments eligible for the HST pathway, and, ultimately, risk patient access to future treatments for rare retinal disease. I will have three or four asks at the end, but that will be one of the key ones and it will conflict with the ambitions set out in priority 4 of the Government’s rare diseases action plan 2024 for improved
“access to specialist care, treatment and drugs”.
Of particular concern for retinal disease today are the thresholds being proposed under criteria 1 and 3. Criterion 1 is that the disease is ultra-rare and debilitating, which is defined as having a prevalence above 1 in 50,000 in England. Criterion 2 is that
“no more than 300 people in England are eligible for the technology in its licensed indication”,
and that the technology is not an individualised medicine. Those changes, which tighten the criteria for HST routing, would force more new and innovative treatments for rare retinal disease, as well as other rare diseases, to be assessed via the STA pathway.
To be approved via the STA pathway, treatments are required to meet a significantly lower incremental cost-effectiveness ratio threshold, which is often not possible for many treatments for rare diseases. As a result, innovations might not be approved by NICE for routine use in the NHS, and that is the question I am posing to the Minister.
I am very pleased to see the Minister in her place; she usually has to answer my queries in debates and she always tries to do so. People living with retinal disease, as well as carers and clinicians, all highlight slowing down the progression or, if possible, reversing sight loss as a top priority for future treatments for IRDs. Delays in access to treatment may result in further disease progression and the deterioration of sight. We need solutions to improve diagnosis, treatment and care for people living with rare retinal diseases. To address the concerns on the proposed refinements to the NICE HST criteria, I would like to ask what discussions the Department of Health and Social Care and Ministers have had with NICE on the potential impact of the changes on people living with rare retinal diseases, and on opportunities for appropriate flexibility? Will Ministers, in the absence of any meaningful change to the HST criteria, commit to exploring a potential “third way”—it is always good to have a third way—for technologies that do not meet the criteria for HST and have a low likelihood of positive recommendations under the STA pathway?
On the support for people living with rare retinal diseases more broadly, the Government’s UK rare diseases framework and the corresponding annual action plans have been important in providing co-ordinated action across four areas: helping patients to get a final diagnosis faster; increasing awareness of rare diseases among healthcare professionals—perhaps those who are not skilled or do not have the necessary training; making the co-ordination of care better; and improving access to specialist care, treatment and drugs. There are four asks in relation to that.
The momentum of the framework and the action plans must continue to deliver improvements for people living with rare diseases, including rare retinal diseases, which this debate is all about. The current framework is due to come to an end in 2026; what happens afterwards? We hope there will be a clear action plan. I am pleased that the Government have taken the decision to spend £26 billion on the NHS—it shows their commitment to addressing a key issue, which is right, and we all welcome that commitment—but do they plan to publish a new rare diseases framework in 2026? Will they include access to rare disease medicines as a central pillar of the next framework, and keep the issues relating to NICE appraisal of rare disease treatments under ongoing review so that those suffering with the conditions can access effective treatments?
Retina UK, which is celebrating its 50th anniversary, has provided some background to the current situation. I put on the record my thanks to the charity for making that information available; it probably helped all of us who are taking part in the debate. Some 54% of respondents to Retina UK’s 2022 sight loss survey were aware of research into their condition, while 20% had participated in that research and 31% could name the gene causing their condition, which was a significant improvement from 15% in 2019. That is a positive step in the right direction, reflecting better genetic diagnosis and education. However, unmet demand for genetic testing and counselling persists, emphasising the need for increased funding and accessibility.
Something that struck me about rare retinal diseases is that 93% of respondents to the survey reported experiencing anxiety, stress or loss of confidence due to sight loss, but only 16% had accessed mental health support. Some level of anxiety, depression, angst or stress often comes with a very difficult disease, particularly retinal disease. Although resources such as Discover Wellbeing offer tailored psychological support and strategies to improve resilience and quality of life, it is clear that more support needs to be offered. For example, perhaps GP surgeries could be given more information to signpost our constituents—their clients—to greater support, which should be available as they navigate their life journey in a completely different way.
It must be noted that 56% of survey respondents prioritised funding research into treatments, compared with 23% who prioritised providing support services and 21% who prioritised raising societal awareness. Improved genetic testing services and counselling are crucial to enhancing patient care and enabling clinical trial participation. Some 39% of respondents had experienced sight loss-related accidents requiring medical attention, so policies to promote access to mobility aids and rehabilitation services are also urgently needed. [Interruption.] A bell is telling me that my time is coming to an end. I am thankful for that reminder—I am on the last page of my speech.
Continued investment in research, infrastructure and inclusive technology will drive significant improvements in the lives of individuals with IRDs, but that requires commitment from the Minister, the Government and this House to increase funding for research. First, we must support funding initiatives for genetic testing, clinical trials and treatment innovation for rare retinal diseases; secondly, we must promote accessibility and enhance the programmes that provide assistive technologies, mobility aids and accessible information to individuals with sight loss; thirdly, we must expand mental health services; and fourthly, we must advocate for early diagnosis and counselling.
I have made a number of requests, but they are positive requests. I hope that, in the response from the Minister and from my Government, we can find a way forward to help those with retinal diseases. We must seek to deliver in a more effective way, and this debate is the first step towards that.
Shockat Adam (Leicester South) (Ind)
What a pleasure it is to serve under your chairmanship, Dame Siobhan. In my time in the House I have written speeches for Westminster Hall that are five, six or seven minutes long, but by time I get here the Chair always tells me that I have a minute, so I only wrote a minute-long speech.
Dame Siobhain McDonagh (in the Chair)
The hon. Gentleman can go on for as long as he likes.
Shockat Adam
The hon. Member for Strangford (Jim Shannon) said, “Do what I do and expand it.” This subject is extremely important, and I am so grateful for the hon. Gentleman for bringing it to this Chamber.
Imagine a mother-to-be sitting on a consulting room chair. Her excitement at becoming a mother has been overshadowed by the news that she has been diagnosed with Stargardt disease. It is literally a race against time: will the child be born or will the sight be lost? Imagine a young boy who has expressed his ambition to become a rugby player for England, only for a cursory investigation at the back of the eye to detect retinitis pigmentosa. Unfortunately for me, that was my reality as an optometrist. I faced such heartbreaking cases regularly in my profession.
Rare retinal diseases such as retinitis pigmentosa, Stargardt disease and Leber congenital amaurosis, among many others, are individually rare but collectively very significant. They devastate and destroy lives. The hon. Member for Strangford mentioned Chris, the victor of “Strictly Come Dancing”; he shows the potential of the majority of people with sight loss, but unfortunately that is not the reality for most—their lives are destroyed, their independence is taken and opportunities at work are limited.
The UK Government have committed to tackling rare diseases through initiatives such as the UK rare diseases framework, which aims to improve diagnosis, raise awareness and enhance the access to specialist care. Additionally, a new action plan is set to be released in 2025, showing promise for further progress. But commitments need to translate into tangible action.
Furthermore, we need regulatory bodies such as NICE to play a pivotal role. I fully appreciate NICE’s work to ensure that the quality and safety of treatments can never be compromised—those principles are non-negotiable —but to encourage innovation, NICE must proactively engage with pharmaceutical and medical companies to work collaboratively to establish best practices. Such dialogue will signal to companies that their commitment to researching rare diseases, which costs millions, will be met with the potential for reward. This will ensure that patients can benefit from cutting-edge advancements without delay. As the hon. Member for Strangford said, short-term investment in research and treatment for rare retinal diseases will deliver long-term financial benefits, to the tune of £600 million. It will also reduce lifelong healthcare costs and empower patients to live independent, productive lives.
The eyes are indeed the window of the soul, but they are also the window to our health. So many health conditions are detected in the eyes, and rare retinal conditions can lead to the early detection of other health conditions, such as Behçet’s disease and so many others. We are thankfully on the brink of transformative breakthroughs. Gene therapies such as Luxturna, which is a virus vector-based medication, along with AI-driven early detection and advancements in stem cell research, offer real hope. By supporting those innovations with funding and adaptable regulations, we can bring life-changing treatments to those who need them most.
This is about not just heath but equity and humanity. Without action, we will condemn families to live in the shadow of irreversible loss, because if a person has sight loss, it affects the whole family. With action, we can rewrite their stories and give them hope and vision. Let us act now for that mother, that young boy and the thousands like them. Sight is not a privilege: it is a right.
Steve Darling (Torbay) (LD)
It is a pleasure to serve under your chairmanship, Dame Siobhain.
I congratulate the hon. Member for Strangford (Jim Shannon) on securing the debate. He rightly highlighted how inspirational it was to see Chris McCausland winning “Strictly Come Dancing” a few weeks ago. Chris McCausland shared three words at the end of that journey: “opportunity, support and determination”. Those play out well in respect of the challenges we face, which the hon. Members for Strangford and for Leicester South (Shockat Adam) unpacked extremely well.
At an event last night hosted by the all-party parliamentary group on eye health and visual impairment, a gentleman with retinitis pigmentosa told us that when he was diagnosed at the age of eight, his mother was taken aside and told, “This child should be sterilised at a certain age. That is the best way of sorting out this condition.” That is absolutely horrific, and I am heartened that, a little under 50 years later, the world has moved on.
My visual impairment was diagnosed about 45 years ago. I suffer from Stargardt disease, which is one of the two significant areas in terms of inherited conditions. I was deeply upset as a young lad, mostly because I was not able to be a lorry driver; I idolised my father, and that was my aspiration.
Visual impairments have a significant impact on people’s ability to fulfil their aspirations, as colleagues have highlighted, but they also impact opportunities. Twenty-five thousand people across the United Kingdom are affected by such conditions, and 75% of people registered blind are sadly unemployed, so we are condemning people who have drawn from the lottery of life; they are very much more likely to be unemployed than other people in their communities.
I have discovered that the cost of such conditions is £500 million a year, in a number of different pots. That includes not just the cost of medical intervention, but the cost to society of supporting each individual. Some 95% of these hereditary conditions are untreatable, potentially until the not-too-distant future.
The hon. Member for Strangford laid out the challenges for NICE. We are in a perverse situation at the moment—almost an anti-Goldilocks situation—where one falls between two stools: it is a rare disease, but it is a relatively common rare disease, and therefore does not fit within the ultra-rare criteria, so one falls between two stools. I hope the Minister will give serious consideration to the two conditions—retinitis pigmentosa and Stargardt’s—where significant numbers of people will be impacted by falling between those two stools. I reflect again on the words of Chris McCausland: give us opportunity, support and determination.
Edward Argar (Melton and Syston) (Con)
It is a pleasure to serve under your chairmanship, Dame Siobhain, and to do so debating a health matter, as we have spoken many times in the past about health issues. I am very grateful to the hon. Member for Strangford (Jim Shannon), who I call my friend, for bringing forward this debate.
I am equally grateful for the opportunity to serve opposite the Minister. She and I have served opposite one another on many occasions in the past—previously with me on the Government side and her on the Opposition side, but I am getting used to this side of the Chamber now. It is encouraging that she is responding because she engages with these debates and gives genuine answers. The debate will be the better for her being the Minister.
The hon. Member for Strangford has brought forward a hugely important debate, as he so often does. Many important issues rarely get brought before the House, yet we are the poorer for that. This debate might not otherwise have been tabled, but it is right that we debate the issue. I pay tribute to the hon. Member for Battersea (Marsha De Cordova), who is not in the Chamber but has done a lot in the House to highlight the issue in her work with the APPG—it would be wrong not to recognise that in this debate. I also pay tribute to the Royal National Institute of Blind People for its work and to all those who have contributed to raising awareness.
Before I became a Minister in 2018, I was the vice-chairman of the APPG on eye health and visual impairment, so I took an interest in this important issue back then, and it crossed my radar on a number of occasions when I was Health Minister. As the hon. Member for Strangford and the hon. Member for Leicester South (Shockat Adam) set out, while individual rare conditions may be exactly that—they occur rarely, with few people getting them—collectively, rare conditions account for a significant number of the conditions that individuals in this country have.
The hon. Member for Leicester South brought his background and knowledge to bear on the subject, as he does when speaking about these matters. He highlighted the potentially devastating impact that optical and retinal diseases and illnesses can have on someone’s life. A few years ago I did something very trivial; somehow—heaven knows why—a tree branch went right across my eye and cut it. I recovered fully, but for the few weeks that I had the treatment and the cream, it had an impact on my daily life. It was trivial in the great scheme of things—although if untreated, it may not have been—and I can only begin to imagine the impact of some of those conditions, as the hon. Member elucidated.
Shockat Adam
The right hon. Member should not feel bad, as that is the most common reason for eye trauma—gardening is the most dangerous sport for eye health. I have met people who lost their sight from a branch scratching their cornea.
Edward Argar
In which case, I remain very grateful to the clinicians at the Leicester royal infirmary. The hon. Member will be pleased to know that my wife shares his view about the dangers of gardening, particularly when I am doing it.
As right hon. and hon. Members can see, I am increasingly reliant on my reading glasses and my regular eye tests at Specsavers—other opticians are available. As the hon. Member for Strangford said, that is a reminder of the importance of the issue. A regular eye test not only can detect optical and retinal illnesses earlier, but can potentially spot other more serious conditions that are not directly related to eye health, but of very great significance.
Jim Shannon
I had two constituents in Newtownards who came to me complaining of a really sore head and a terrible colour. I said, “Have you been to the doctor?” “Yes,” they said. “Go and see your optician,” I said. On both occasions, they had tumours—one of them was the size of a golf ball; the other was growing. When they got to the A&E at Ulster hospital, they were retained and had emergency operations. With a simple interview and appointment, an optician can diagnose that early on, which can save someone’s eyesight and their life as well.
Edward Argar
The hon. Gentleman is absolutely right. He and I have known each other since we came to this House, and he has read my mind, because I was about to say that there are examples of life-threatening tumours being detected through a regular eye test and a referral onwards, which has saved people’s lives. As he set out, an estimated 25,000 or so people in the UK are affected by inherited retinal diseases. As the hon. Member for Leicester South said, the most common, which I will mispronounce, is retinitis—
Edward Argar
I am grateful to the hon. Gentleman. As a professional optometrist, I am sure his bill will be in the post. Inherited retinal diseases can lead to a gradual loss of vision and can have potentially devastating effects.
Lee Pitcher (Doncaster East and the Isle of Axholme) (Lab)
My wife lives with retinitis pigmentosa. We have been together for 30 years, and over that time, I have seen how that degenerative eye disease can change the way that we live, adapt and care for each other as a family. Although there is a massive place, as we have talked about, for innovation and research and for access to investigation for treatment, once she got the white cane that she has now, that became a symbol for everybody else. People notice that she has a condition and they are much more attentive to her for that reason.
It is in the period before that where we could make an intervention around inclusion and education. Does the right hon. Gentleman agree that we could do something at that point to identify to others that somebody has a condition, which they might not be able to see, in order to help them?
Edward Argar
The hon. Gentleman is absolutely right. One of the key themes of this debate has been the importance of raising awareness and of societal understanding. Before I was a Minister, I co-chaired the APPG on dementia. I think we are making progress, but a large part of the challenge that we face as a society is raising the awareness and understanding of hidden conditions or things that might not be immediately apparent to people, particularly before there is a diagnosis or some sort of visual sign, such as a white cane, or other measures. This debate will play a small but important role in helping to raise awareness of those conditions.
The next challenge, as was alluded to, is diagnosis and what more can be done to deliver better and earlier diagnosis. Again, real progress is being made, but, as so often in these spaces, we can do more. It is a pleasure to be taking part in this debate, because although we often to and fro across the Dispatch Box or across the Chamber, I suspect that there is a fair degree of consensus today about where we are, what progress we have made and what more needs to be done, which is all to the good.
As has also already been alluded to, when there is a diagnosis, the next challenge is the treatment and what is possible in the way of treatment. In 2019, as has been said, NICE recommended the use of a new gene therapy called—again, I will use the abbreviation rather than the technical term—the Luxturna approach; I am sure that the hon. Member for Leicester South would be able to correct me, if necessary. It was recommended to treat inherited retinal dystrophies that are caused by a specific type of gene mutation. We are seeing real progress with that type of viral vector-based gene therapy. There are also potential new treatments that we have heard about, including further gene and stem cell therapies, artificial vision therapies, electrical stimulation therapies and indeed the use of growth factors and retinal transplants.
I have sat where the Minister is sitting now, so I know that there is always a challenge in this space. One of the great successes of our country is in innovation, including the rapid development of new therapies and new treatments. However, there must always be a process to make sure that they are safe and effective, and we must strike the appropriate balance in recognising that there is no infinite pot of money for any Government.
In August 2024, Retina Today, a respected journal, reported that there are currently over 30 gene therapies in development for the treatment of a range of retinal diseases, so we can look forward with a degree of cautious confidence to what is being done in that space. The challenge will always be, of course, how we translate such treatments into effective, deployable and—if I am being honest—affordable solutions for people who have such conditions. The situation is similar with artificial vision technologies, including the implanting of microchips. Therefore, there is reason for us be hopeful about treatment and research.
I now turn to the UK rare diseases framework, which hon. Members have spoken about today. It was first published in January 2021 and there have been a number of action plans since: there was one in February 2022, with 16 actions; one in February 2023; and one in May 2024. I was encouraged that in December 2024 the Minister’s colleague—the Under-Secretary of State for Health and Social Care, the hon. Member for Gorton and Denton (Andrew Gwynne)—reaffirmed the Government’s commitment to the rare diseases framework. I am also encouraged that there is talk of a 2025 refresh. I hope that the Minister can give a little more information on how she sees that process playing out when she speaks.
Some progress was made with those action plans, but if we are being completely honest, it was perhaps not as much progress as we might have wished. There are a range of external reasons for that, but there is now an opportunity for the new Government to continue to take the process forward. From what I see and hear, they are committed to and willing to do that, which is deeply encouraging.
With regard to NICE, I have already alluded to the challenges that it always faces. It has a difficult role to assess the clinical and cost-effectiveness of medicines and treatment, which is challenging because if someone is in need of a treatment—indeed, if they are desperate for a treatment—they will obviously want that treatment to be trialled. We therefore need to recognise that NICE does a difficult job in striking the right balance.
NICE uses the HST—highly specialised technology—programme. As we heard, refinements to the routing criteria have been proposed, including that
“The disease is ultra-rare and debilitating…having a point prevalence of 1:50,000 or less in England…is lifelong after diagnosis with current treatment, and…has an exceptional negative impact and burden on people with the disease”;
that there is the
“aim to encourage innovation and research”,
which is a good thing that we can all support; that
“The technology should be limited to the population in its licensed indication… No more than 300 people in England are eligible for the technology for its licensed indication, and the technology is not an individualised medicine”;
and that there are “no effective treatment options”.
I understand that just before Christmas NICE launched a public consultation, ahead of updating the HST eligibility criteria. That consultation is due to report later this year, following the closure of the consultation on 30 January. As I look at the date on my watch, I can see that hon. Members and other individuals have about a week or so in which to make any representations or put any views to that consultation, should they wish to do so.
I hope that the Minister will be able to update right hon. and hon. Members on each of those aspects—where she sees us going with diagnosis, treatment and access to treatment, and where she sees that research going in the long term. I hope the hon. Member for Torbay (Steve Darling) will forgive for not mentioning him before, but I pay tribute to him for bringing to his role and to this subject—as he does to his other speeches in this Chamber and the main Chamber, and to other debates since he has arrived in this House, not limited to this subject—a measured, thoughtful and knowledgeable approach. The House is all the better for those contributions.
Once again, I am deeply grateful to the hon. Member for Strangford for bringing forward this hugely important debate. This House is at its best when Members debate not the to-ings and fro-ings that we all put in our election leaflets, but consensual matters where there are genuine points of interest and where we can make a real difference for people. That is one reason why I was very keen, despite being the shadow Secretary of State, to speak in this debate—but also, of course, because it is a pleasure to serve opposite the Minister again for old time’s sake. I very much look forward to what she has to say and I am grateful to have had the opportunity to speak.
The Minister for Secondary Care (Karin Smyth)
It is a pleasure to serve under your chairmanship, Dame Siobhan. I start by thanking the hon. Member for Strangford (Jim Shannon) for securing this debate on such an important issue and other Members for their contributions.
Both the shadow Secretary of State and I are covering for other colleagues this afternoon, so hon. Members can imagine my joy when actual experts walked into the Chamber. The hon. Members for Leicester South (Shockat Adam) and for Torbay (Steve Darling), as has been said, bring great personal and professional expertise to this debate, so it was joyful to see them come in. It was good to hear from my hon. Friend the Member for Doncaster East and the Isle of Axholme (Lee Pitcher); the experience he brings through his wife is really valuable. My hon. Friend the Member for Battersea (Marsha De Cordova) has been such a champion of this issue both in her personal experience and since she came to the House. I understand that it is her birthday today, so I hope she is having a good time. She has brought great expertise to this place.
I am going to do my best to answer the questions. I have been billed highly by the hon. Member for Strangford, and I am grateful for that. The Under-Secretary of State for Health and Social Care, my hon. Friend the Member for Gorton and Denton (Andrew Gwynne), will write to hon. Members about anything that is outstanding.
I would like to take time to acknowledge the experiences of those living with rare inherited retinal diseases and their families, who I know will be paying attention to this debate. I pay tribute to all those who work tirelessly to raise awareness of rare conditions and bring about change. Although rare diseases are rare individually, their impacts are far-reaching. One in 17 people will be affected by a rare condition over their lifetime; that is around 3.5 million people in the United Kingdom. As the hon. Member for Strangford said, rare inherited retinal diseases affect around 25,000 people in the UK and collectively represent a leading cause of sight loss in working-age adults. We recognise the impact that these conditions have on patients, families and wider society and the need for innovative approaches to tackle these changes.
The Government are committed to improving the lives of people with rare conditions. The hon. Member for Torbay used that quote about providing opportunity, support and determination for people. The UK rare diseases framework outlines four priorities to achieve this aim: helping patients get a final diagnosis faster; increasing awareness of rare diseases among healthcare professionals; better co-ordination of care; and improving access to specialist care treatment and drugs. In England, our annual rare diseases action plan sets out the steps we are taking to meet those priorities. We continue to make progress and are working to finalise our next England action plan for publication this year.
It is vital that NHS patients with rare diseases are able to access innovative new treatments as they become available. That includes those with progressive retinal diseases, where early intervention is crucial to preserve sight. Under England’s action plans, NICE, the Medicines and Healthcare products Regulatory Agency and NHS England are working to understand and address the barriers to access for rare diseases treatment. The hon. Member for Strangford asked a number of questions about NICE’s approach that I hope I will cover. NICE does a difficult job well, in my view, and we think its approach is appropriate for the evaluation of treatments for rare diseases. NICE recommended 84% of medicines for rare diseases evaluated through its standard technology appraisal programme in 2023-24. That is comparable to its approval rate for medicines for more common conditions. Those treatments are now available for the treatment of NHS patients.
NICE also operates a separate, highly specialised technology programme for the evaluation of a handful of medicines for very rare diseases each year that recognises the challenges of bringing treatments for very rare diseases to market. NICE recommended the gene therapy Luxturna for a type of inherited retinal dystrophy through that route. One of the recipients of that groundbreaking therapy on the NHS has spoken of his gratitude for the positive effects of the treatment on not just his vision, but his confidence and independence.
NICE is also in the process of reviewing the criteria for routing topics to its highly specialised technologies programme, which the hon. Member for Strangford asked about. That review will ensure that future routing decisions are more transparent, consistent, efficient and predictable. As part of that process, NICE has launched a public consultation on its progress. I encourage the rare diseases community and hon. Members interested to continue to engage with that process.
Research offers a way to accelerate access to new and innovative treatments. Through the National Institute for Health and Care Research, the Government support rare diseases research. There are currently eight active research projects on rare retinal disease funded by the NIHR, with a combined value of over £6 million. The NIHR also invests in infrastructure to support and deliver research studies. The NIHR Moorfields Biomedical Research Centre, which is dedicated solely to vision research, has made significant strides in the field of rare retinal diseases. By harnessing genomic data, the BRC has developed effective treatments, including gene-replacement therapies for inherited retinal disorders. The NIHR is also working closely with commercial companies to bring new medicines and technology to patients.
To connect people living with rare diseases to innovative treatments and sources of support, we need to diagnose these conditions as early as possible. The UK is a world leader in genomic diagnosis. Patients in England have access to whole genome sequencing on the NHS. Advances in genomics mean that new causes of rare retinal diseases are being found every year. As part of Genomics England’s generation study, we are harnessing the power of genomic sequencing to screen for over 200 rare genetic conditions that can be treated in the NHS in early childhood to improve outcomes for babies and their families. That includes the rare retinal disease RPE65-associated Leber congenital amaurosis, which can be treated with Luxturna.
A central mission of this Government is to build a health and care system fit for the future. The 10-year health plan will ensure a better health service for everyone, regardless of condition or service area. The plan will focus on our three shifts for a modern NHS: moving from hospital to community, analogue to digital and sickness to prevention. All three offer opportunities to improve time to diagnosis and care for people living with rare retinal conditions. The shift from analogue to digital will enable innovative uses of data to improve diagnosis and measure treatment outcomes, while NHS ocular genetics services’ use of video consultations continues to widen patient access to specialist advice, in keeping with the shift from hospital to community. Although many rare diseases are not preventable, early diagnosis, as we have heard, can lead to timely interventions that improve health outcomes.
I will outline the treatment pathway for rare retinal diseases. I am thankful for the role played by high street optometrists, some of them here today, in helping to identify patients with sight-threatening conditions. There is good availability of NHS sight-testing services, with over 12 million free NHS sight tests provided to eligible groups annually, including children, individuals aged 60 and over, and those on income-related benefits. Optometrists are required to refer any patient showing signs of injury, disease or abnormality and integrated care boards have been asked to ensure that there are direct referral pathways in place between community optometry and secondary care. As the hon. Member for Leicester South said, the eyes are the gateway into other health conditions. Optometry has a very important role.
As one of the busiest outpatient specialties with one of the largest waiting lists, we know that ophthalmology is facing huge challenges and we are working hard on how we can help to build capacity. NHS England is looking at how digital connectivity could improve the triage of patients referred between primary and secondary care. That would allow for images to be shared, and specialist advice and guidance could help to keep patients in the community where possible.
We recognise the importance of access to emotional and practical support, especially where treatment may not be available. A diagnosis of sight loss will have a profound impact on any individual, who will be at increased risk of stress, anxiety and depression. NHS England’s patient support toolkit for eye care commissioners and providers aims to ensure that patients with ophthalmic conditions or sight loss are supported throughout their care journeys. The RNIB patient support pathway aims to strengthen that and ensure that support and guidance are available to patients from their first eye care appointment through to having a confirmed diagnosis, and then right the way through to living well with their condition. I know that the work of the all-party parliamentary group on eye health and visual impairment and of other hon. Members will help in giving those people a powerful voice.
As we work towards building a health care service fit for the future, it is vital that people living with rare diseases are not left behind. With the UK rare diseases framework coming to an end in 2026, we will look to build on the progress made over the past five years, which the shadow Secretary of State mentioned. We will work with colleagues in the devolved Administrations, as highlighted by the hon. Member for Strangford.
We have commissioned an evaluation of England’s rare diseases action plans through NIHR and will also be undertaking engagement this year to inform future policy decisions. The Government are deeply committed to working across the health and social care system and with the rare diseases community to improve the lives of those with rare conditions.
Once again, I thank the hon. Member for Strangford for raising this important matter. It is good to have high interest, expertise and experience in this place. We want to work with colleagues here and we thank the rare disease community for their valuable ongoing engagement with us to bring about meaningful change.
Dame Siobhain McDonagh (in the Chair)
Order. I will now put—[Interruption.]
Dame Siobhain McDonagh (in the Chair)
Oh, I am sorry; I nearly denied the hon. Member for Strangford his right to sum up. I apologise. I would never wish to silence him.
Jim Shannon
I know we are all anxious to get away, Dame Siobhain. So am I, by the way—I have a plane to catch.
Can I say a big thank you to everyone who took part in the debate? The hon. Member for Leicester South (Shockat Adam) brought up the personal stories of the mum who was expecting and did not realise that she was going to end up with this disease and of the young boy who wanted to be a rugby star when unfortunately that was not going to happen. Those are reminders of what the disease does and I thank him for that. I note that he is an optometrist; I did not know that he did that before he came here, but now I do and I thank him for it. The Minister was right in saying that the talent and information brought to the Chamber has helped us to move forward. The hon. Member for Leicester South also discussed gene therapy and said that the eyes are the window to health. Again, I thank him for that significant contribution.
The hon. Member for Doncaster East and the Isle of Axholme (Lee Pitcher) brought us the personal story of his wife, and what they live with every day. Stories of family members are sometimes forgotten; they are doing something for someone and there is a personal story about how the rest of the family is affected.
The shadow Secretary of State was right that the hon. Member for Torbay (Steve Darling) brings many things to this Chamber outside of health issues. When he speaks there on the front row, we take knowledge; we are always reminded by that wee bell that rings that he is here. We all know. I thank him for that and for his knowledge, which is so important.
The shadow Secretary of State and I have been together in many debates over the years. This subject is important and interesting and he was right to thank the hon. Member for Battersea (Marsha De Cordova). I should have done so; apologies. He is right that she has been a leader and a champion when it comes to eye trauma. By the way, I did not know that the work place most dangerous for the eyes was the garden. That was news to me. I will not talk about my endeavours with a chainsaw; they were scary, although I have survived. The shadow Secretary of State also mentioned regular eye tests, early diagnosis, treatment, research, affordable solutions, the UK rare diseases network and the degree of concern.
I thank the Minister. It may come easy or not so easy, but the hon. Lady always endeavours to give a response on the issues, whether her direct responsibility or not. Today she has done that. She referred to this as a far reaching issue and said that the Government are committed to the rare diseases framework, to faster diagnosis and to the new treatment Luxturna. Right away, she was able to tell us that some people have got that and are feeling the benefit. Those are the pluses that come out of these debates. The Government are committed to research and development and the UK is a leader in genomics. She referred to the treatment pathway and also to ensuring that those with rare retinal disease not being left behind. That is a message we all appreciate. Today the debate has done that, and the Minister has done it well.
Dame Siobhain McDonagh (in the Chair)
I apologise again to the hon. Member for Strangford.
Question put and agreed to.
Resolved,
That this House has considered innovation in the field of rare retinal disease.