Dr Luke Evans

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.