Rare Autoimmune Rheumatic Diseases

Luke Evans Excerpts

Tuesday 10th December 2024 Westminster Hall

[Dr Luke Evans (Hinckley and Bosworth) (Con)]

It is a pleasure to serve under your leadership, Dr Huq, and thank you for the introduction.

I thank the hon. Member for Strangford (Jim Shannon) for his detailed canter through a subject that needs to be highlighted. He hit the nail on the head in relation to improving clinical pathways. We, as a House, need to think about the best way to do that, and to help the NHS to do that. He exemplified that by telling Zoi’s story.

As the hon. Member for Bootle (Peter Dowd) rightly highlighted, the impact on patients is the crux of the matter, which was also personified by the hon. Member for Mid Sussex (Alison Bennett) with her story about Carrie—what she and her mother have to go through, and the difficulties they are living and breathing every single day. The co-ordination of care is so important. The hon. Member for East Londonderry (Mr Campbell), who is no longer in his place, made a timely and pointed intervention about clinicians, awareness and training.

Being a clinician, and bringing that experience to the House, I believe it is difficult to identify the issues because they are often masked by other conditions. A random screening test may conclude rheumatoid factor, anti-CCP antibodies, ESR, CRP, ANA, ANCA, and even anti-ro and anti-la. All those may be positive or negative, and can be indicative of, but not definitive about, some of those conditions. That is part of the problem we have with those rare diseases. With 170,000 people affected, they are uncommon but common enough for us to see them. I certainly have treated several patients with conditions such as systemic lupus erythematosus, Sjögren’s or Raynaud’s.

When we think about these conditions, we need to break them into two distinct groups: the connective tissue disorders, such as lupus, scleroderma, myositis and Sjögren’s, and vasculitis disorders, such as ANCA-associated vasculitis, giant cell arteritis and Behçet’s. By their nature, because they are rare, they are hard to diagnose. I hope that in the future, we may well have artificial intelligence to help clinicians to identify, or at least to think about, the differential diagnosis when it comes to dealing with those patients.

It is a broad and difficult topic to break down, so it will be helpful to look in turn at the framework to address rare diseases, the research behind it, the diagnosis, the workforce, and, finally, the treatment. A framework to help the approach is important, so under the previous Government, the UK rare diseases framework was published in 2021 to set out a vision to improve the care for people with rare diseases. It set out four priorities: delivering early diagnosis, increasing awareness among health professionals, improving access to a specialist team and providing co-ordinated care. In essence, that is the care pathway.

The framework was designed to improve the speed of diagnosis, the co-ordination of care and the access to treatment. As RAIRDA said:

“The UK rare disease framework (2021) has been a significant step in securing equity of treatment for rare diseases, and going forwards, it is crucial that the Government does not lose sight of the work done to date to drive changes for people living with rare conditions.”

Therefore, I ask the Minister my first question: how do the Government intend to build on the UK rare diseases framework to ensure that it remains adequately funded and relevant?

Next, we need the research, and that is the hardest part. As I mentioned, some of the tests cannot even diagnose conditions such as Behçet’s syndrome; it is often a clinical diagnosis. The establishment of the Genomics England project, further mapping the genetic codes of individuals with rare conditions, was a move hailed by researchers worldwide. The programme, although ostensibly broad, directly benefits patients with rare autoimmune rheumatic diseases by identifying genetic markers and enabling targeted treatments. My second question to the Minister is: what progress has been made in expanding genetic research to uncover new treatment options for such diseases?

Earlier this year, the Government published an action plan that includes significant new commitments against each of those four framework priorities, including the health inequalities that we have heard so expertly talked about today. The action plan highlighted the significant investment in driving research on the diseases, including £14 million to the Rare Disease Research UK platform. That facilitates greater collaboration between academics, clinical and industry research, as well as people living with rare diseases, research charities and other stakeholders to try to accelerate the understanding, diagnosis and therapy of these diseases. I was pleased to stand on a manifesto commitment to take forward the rare disease action plan.

I fully accept that more needs to be done, and the new Government must work closely with their delivery partners on the matter. I was pleased that in a recent written response, the Government reiterated their support for research into rare diseases. They further highlighted that the Department for Health and Social Care has invested £2.2 million to enable the National Institute of Health and Care Research to carry out research programmes related to rare genetic diseases, and of course the £340 million to Genomics England.

I did my medical training at the University of Birmingham medical school, which has the University of Birmingham Centre for Rare Disease Studies, a collaboration to try to pull together all the academic research. That is translational research. As we keep saying, these diseases are rare so, by definition, to do the trials, we need to have a wide pool to pull people together to try to work things out. I hope the hon. Member for Strangford will be interested in the fact that that university has joined with the Queen’s University Belfast to research and collaborate across the four nations, including with Newcastle University. In 2015, I had the privilege of visiting that centre, and this is a note for him to look into that. Will the Government continue to increase funding specifically for rare autoimmune rheumatic diseases, especially within the Medical Research Council’s care for rare disease programme?

Then we need to look at workforce and testing capacity. Over the last few years, the Government have allocated £2.3 billion to community diagnostic centres, of which there are almost 170 across the country. Those are really important for doing blood tests, ultrasounds, MRI scans and CT scans. In my constituency, I am lucky enough to have had £24 million invested; one is being built as we speak. That is revolutionary for our area, because for too long people had to travel to the likes of the George Eliot Medical Centre or to Leicester. Now they can have these tests in their community, providing swifter access. I hope that that will help people like Zoi, about whom we have heard, by making sure that she is one of the lucky ones who gets swift access.

Within that, we also need the people who can do the tests and understand the specialisms, so will the Minister tell us whether the Government will be expanding the network of CDCs any further? On staffing, the last Government brought forward the NHS workforce plan. How are this Government looking at addressing rheumatology and radiology in that plan to make sure there are no gaps?

Treatment is the one thing we are looking for. We have the diagnosis, but we need the treatment. Innovative drugs are coming, including immunotherapies, but they often come with high price tags. NICE is looking at how to speed things up, but will the Government commit to accelerating the processes so that we can make sure people get these innovative drugs as quickly as possible? We should not forget that standard drugs are used as well, including methotrexate. They can be quite dangerous, so I ask the Government what they are doing to ensure safe use of such drugs. Disease-modifying medications are important, but they can have high toxicity if not used properly, so they can cause harm. Safety is really important.

The previous Government’s legacy is one of frameworks being established, investment being made and a road to improve lives. For the 2024 general election, RAIRDA published a manifesto that called on the Government to ensure that rare diseases remain a priority, to develop a quality standard for rare diseases and to develop better support for specialist networks. How will the Government work to consider and address those points? I hope this debate has highlighted exactly those calls, because we unanimously agree that this is what we need: research, networks, support and treatments for the individuals who are suffering.

[The Parliamentary Under-Secretary of State for Health and Social Care (Andrew Gwynne)]

It is a pleasure to serve under your chairmanship, Dr Huq. I thank the hon. Member for Strangford (Jim Shannon)—I want to call him an hon. Friend because he is a friend, but convention dictates that I must call him an hon. Member—and I welcome the fact that he cares so much about health-related issues. I now see him more than I see my wife, because he is always in debates about a whole range of health conditions, and he brings so much passion to those debates. Importantly, he highlights rare diseases. I thank him for the way he made his case this morning, and for speaking about Zoi’s experience. When we humanise these things, we make them all the more impactful.

I thank my hon. Friend the Member for Bootle (Peter Dowd) for his contributions, and I thank the Liberal Democrat spokesperson, the hon. Member for Mid Sussex (Alison Bennett), for humanising the issue through Carrie’s story; that is crucial. The shadow Minister, the hon. Member for Hinckley and Bosworth (Dr Evans), brings his professional experience to this debate, and that cannot be underestimated. I confess that I am not a medical professional, but in health debates it is important to listen to the expertise of those who work in the sector and on the frontline. I thank him genuinely for the way he has approached the debate. This is not a party political, knockabout debate; it is something on which we all want to see progress. The beauty of Westminster Hall is that we can leave the knockabout to the main Chamber, and in this room we can get into the detail of important subjects that are often overlooked. I pay tribute to those who are affected by rare disease, including rare autoimmune rheumatic diseases, and to their families.

The work of patient organisations such as RAIRDA is vital in raising awareness and campaigning to improve the lives of people who are living with rare diseases, and I thank those who dedicate their lives to this community. It is important to make the point that although rare diseases are individually rare, they are collectively common. One in 17 people will be affected by a rare condition over their lifetime. People living with rare diseases may face additional challenges in accessing health and social care. As the hon. Member for Mid Sussex said, this applies to a whole range of health services, including dentistry, and I hope that the Minister responsible for dentistry will pick that up. I will ensure that he receives her comments, because dentistry is often overlooked when it comes to people with rare conditions.

We are committed to improving the lives of people who are living with rare conditions. As the hon. Member for Strangford mentions, the UK rare diseases framework outlines four priorities to achieve this aim: helping patients to get a final diagnosis faster; increasing awareness of rare diseases among healthcare professionals; bettering co-ordination of care; and improving access to specialist care, treatments and drugs. Rare diseases are a priority for the Government. In England, we publish a rare diseases action plan annually, which details the specific steps we are taking to meet the shared priorities of the framework. Each action has an owner, desired outcomes and detail about how we will measure and report on progress. This Government are committed to delivering on the priorities framework, and we are working to publish the next England action plan in early 2025.

The UK rare diseases framework comes to an end in 2026, and I know that the rare disease community would like the policy to continue, to maintain the momentum and progress made over the lifetime of the previous framework. It is UK-wide and agreed across the devolved nations, and I am more than happy to discuss it further with colleagues in Wales and Scotland and, for the hon. Member for Strangford, with Mike Nesbitt, the Health Minister in Northern Ireland. I am the UK Health Minister with responsibility for engagement with the devolved Administrations when it comes to health and social care; indeed, we have a meeting with them and with the Secretary of State tomorrow to discuss a whole range of subjects. I am more than happy to discuss this issue further with colleagues to see if we can maintain four-nation co-ordination in this area. I believe that if we can do so, we should. I give the hon. Member for Strangford my commitment that I will take the matter up with the devolved Health Ministers to see if we can continue the four-nation approach.

In England, I am committed to working towards the four priorities of the framework, which were identified through the 2019 national conversation on rare diseases. Alongside the evaluation of England’s rare disease action plans commissioned through NIHR, the Department will undertake engagement next year to inform future policy decisions. The Government are committed to providing the best diagnosis and care for rare diseases, as set out in the UK rare diseases framework. Good diagnosis should be timely and accurate, and I know that people living with rare diseases often face journeys that are years long—diagnostic odysseys—before they receive an answer.

As the shadow Minister set out, many health professionals are involved in a patient’s journey, from those in specialist testing and genetic screening to GPs and primary care professionals. Raising awareness of rare conditions among those professionals is one way in which we can help to speed up diagnosis. I know that every experience of living with a rare disease is unique, and, with more than 7,000 identified rare diseases, we focus on addressing shared challenges across all rare diseases.

Although the increasing use of genetic testing is an groundbreaking tool in diagnosis, many conditions, including rare rheumatic autoimmune diseases, do not have an identified genetic component, so it is important that overall awareness, diagnostics and quality of care continue to serve all people living with rare conditions. NHS England is working to improve awareness of rare diseases among healthcare professionals, including those in primary care, through the NHS England genomics education programme, which includes non-genetic rare diseases. The GEP provides education and training to support the specialist and wider workforce to diagnose rare conditions early and to know how to deliver the best possible care for patients and families—the shadow Minister mentioned that. Working with partners such as Medics 4 Rare Diseases, the GEP has created genomic notes for clinicians, GeNotes, an innovative digital educational resource for healthcare professionals. The GEP works to provide information to GPs where and when they need it—for example, by presenting at primary care educational events, producing blended learning modules for GP trainees or ensuring regular reviews of the curriculum of the Royal College of General Practitioners.

The shadow Minister rightly mentioned research. I reassure him that the Department of Health and Social Care—this started on the previous Government’s watch, and we rightly are continuing the progress—supports research into rare diseases through the NIHR. The NIHR is the nation’s largest funder of health and care research, and it welcomes funding applications for research into any aspect of human health, including rare diseases. The usual practice of the NIHR and other research funders is not to ringfence funds for expenditure on particular topics. The “Rare Diseases Research Landscape Project Report” described investment of almost £630 million from MRC and NIHR programmes in rare disease research over five years. We are now working with the rare diseases community to further understand the gaps and the priorities, and to get them into those research pathways so that we can, we hope, fill the gaps.

As many rare diseases are chronic and affect multiple body systems, those living with rare disease face complex condition management, and interact with many specialists and providers of health and social care. That can include travelling across the country to access highly specialised care from experts. All of that can add up to a significant emotional and physical burden, and deepens existing inequalities. Co-ordination of care is essential to ensure that care is effectively managed, that the burden on patients and their carers is minimised and that healthcare professionals are working together to provide the best possible joined-up and high-quality care.

Last year, we hosted a workshop with RAIRDA to explore how best to support people living with “non-genetic” rare diseases. That highlighted the importance of specialised networks of care in delivering high-quality care at value for money. As we heard from the hon. Member for Strangford, networks, such as the Eastern Network for Rare Autoimmune Disease, are an example of best practice. I encourage integrated care boards to consider similar models across the whole country for types of rare diseases. I am more than happy to look closely at how we can seek to spread that best practice across the country, across different rare disease types and across ICBs, because patients with rare conditions deserve the same quality, safety and efficacy in medicines as other patients with more common conditions.

NICE, the MHRA and NHS England are working to understand and to address challenges preventing treatments for rare conditions from reaching patients who need them. I take on board precisely the points that the shadow Minister raises about the new drugs, how we ensure faster access and how we create the environment whereby clinical trials are more readily available in the United Kingdom. I want to assure Members that that is a central part not just of our health mission but of the Government’s economic mission, because we want the United Kingdom to be a base for investment in life sciences, in medtech and in access to clinical trials, so that our patients win as well as our economy. We have to ensure that safety is foremost in our deliberations. Safety is paramount, and we must ensure, in whatever regulatory regime that we have to encourage the life sciences, medtech and data industries into the UK, that safety is never compromised. I take on board fully the comments made by the shadow Minister.

NICE has also been working with RAIRDA to create a quality standard for rare diseases. That will find commonalities across the more than 7,000 identified rare diseases to develop standards that will drive quality improvement across multiple rare disease groups. Although the majority of rare diseases are genetic, others, such as rare autoimmune rheumatic diseases, do not yet have an identified genetic cause, as I said. A study by Genetic Alliance UK suggests that such conditions often have higher prevalence, impacting on a significant number of people, so it is important that both genetic and non-genetic conditions are considered.

Approximately 3.5 million people in the UK live with a rare condition, and addressing shared challenges across all conditions will be central to this Government’s approach. In addition, shared challenges across the health and social care system are often exacerbated for people living with rare diseases, such as access to mental health support—something else that the hon. Member for Mid Sussex mentioned. A central mission of this Government is to build a health and care system fit for the future.

The hon. Member for Strangford referred to our 10-year health plan. I reassure the House that that is intended to focus on the three shifts needed to deliver a modern NHS—not just fixing our NHS, but making it fit for the future, for the next 10, 20 or 30 years, putting it on a modernised footing as well as fixing the fundamentals. The three shifts are moving from hospital to community, from analogue to digital and from sickness to prevention. Those shifts offer opportunities to improve time to diagnosis and care for people living with rare diseases. Many highly specialised services for rare diseases must be delivered in hospitals to ensure the high standards of expert care that we want to see, but we can improve co-ordination of care to deliver better treatments closer to where people live, where possible. While many rare diseases are not preventable, early diagnosis can lead to interventions that improve health outcomes.

On the point made by the shadow Minister about community diagnostic centres, the Government’s commitment is to continue that programme. Indeed, I have seen the benefits of it myself—I got to open the new CDC at Crownpoint in Denton in my constituency in July. It is already having a game-changing impact on the local community, giving faster diagnosis and getting people into treatment more quickly, with better outcomes and better patient experiences for those who access the facilities.

The 10-year plan will ensure a better health service for everyone, regardless of condition or service area. On 21 October, we launched a national conversation on the future of the NHS, inviting views from across the country on how to deliver a health service fit for the future. Patients, staff and organisations can make themselves heard by logging on to the online portal, change.nhs.uk. I encourage hon. Members to do the same and to encourage their constituents to do likewise, if they have not done so already.

Unmet need remains, however, for people living with rare diseases, including rare autoimmune rheumatic conditions. I reaffirm that I am deeply committed, as is this Government, to working across the health and care system and with the rare disease community to address that need.

Finally, on workforce, the hon. Member for Strangford and other Members asked if the goal of the Government is to ensure that a patient gets the treatment, and that we get that treatment with the workforce we have. Getting that right workforce will be key. I reassure Members that the goal of the Government is to ensure that the patient, as they deserve, gets all the help that the NHS can offer in treatment, care and support.

The 10-year health plan will deliver those three big shifts on hospitals to community, analogue to digital, and sickness to prevention. To support delivery of the plan, the Secretary of State has confirmed that next summer we will refresh the NHS long-term workforce plan. That will help to ensure that the NHS has the right people in the right places with the right skills to deliver the care that patients need when they need it, not just today but in the future. The shifts we want to see in the delivery of healthcare will require us to rethink the kind of workforce we need in 10 years’ time.

[Dr Luke Evans]

I am grateful to the Minister for acknowledging the workforce, and for looking at the workforce plan. I was aware of the Health Secretary’s plan to revisit this, and the Minister talks about it being done next year. Does he have a timescale for how long the review will take? The danger, especially in healthcare, is that modernisation happens so quickly that, by the time we review something, it is already out of date and needs another review. This is always a chicken-and-egg situation. I would be grateful for a timescale.

[Andrew Gwynne]

We will refresh it next summer, and the Department is already beginning to think about whether this is what the shifts are intended to bring about, and whether these are the outcomes we want to see as a result of those shifts. If we are to have a neighbourhood health service that delivers much more in a community setting, how do we ensure we have the right skills and the right workforce to deliver that?

Particularly with the shift from analogue to digital, we will need a lot more tech-savvy clinicians, too. How do we build in some of the massive advances in artificial intelligence into medical devices and medical technology? We will be doing that concurrently with the 10-year plan to make sure that the workforce plan refresh is ready to go. This will allow us to embed the future, not just today’s practices, into the training and recruitment processes for the immediate future. The refresh will begin next summer, but it is a chicken-and-egg situation. We need to work out what the future of the NHS will look like, and then we have to ensure that we have the skills to meet that ambition—not just for today, but for the future.

In closing, I again thank my friend, the hon. Member for Strangford, for raising such an important matter, and I thank the rare diseases community for their continued and constructive engagement with the Government to help bring about meaningful change. I hope I have reassured the hon. Gentleman both on cross-UK working—and I take up his challenge to try to get colleagues across the devolved Administrations to agree to continue a UK-wide approach—and on my specific responsibility here in England. We will take forward the four areas identified in the UK plan. We will have a new plan for England, and we will seek to make the significant progress that I believe all Members of this House want to see happen.

I am more than happy to work collegiately with Members across the House, whose role is to scrutinise the Government, to hold our feet to the coals and to make sure we do what is in the plan at the best speed and pace for people living with these conditions. I also accept that I am not the sole fount of all wisdom in this area.

[Dr Luke Evans]

No!

[Andrew Gwynne]

I know the shadow Minister is surprised by that. Genuinely, whatever people bring to the table, whether it is personal experience, professional expertise or their constituents’ stories, we need to share that knowledge so that we can improve how we deliver the outcomes we want to see for people living with rare diseases. I stand willing and ready to work with hon. Members across the House, and indeed with organisations that champion this area, so we can get the best outcomes that people deserve.