Rare Diseases

Norman Lamb Excerpts

Tuesday 17th December 2013 Westminster Hall

[The Minister of State, Department of Health (Norman Lamb)]

It is a pleasure to serve under your chairmanship, Mr Bayley. I thank the shadow Minister, the hon. Member for Copeland (Mr Reed) for his generous offer of support, and I am sure that we will be able to deliver his preconditions for that support. I congratulate the hon. Member for Strangford (Jim Shannon) on securing the debate. He is, as the shadow Minister has said, one of the most assiduous attendees at health debates and a consistent contributor on a whole range of different issues. We all welcome his contributions. He always makes the case for better co-ordination and collaboration between the different nations of the United Kingdom, and I completely share that aspiration. There is great value in a bit of diversity in the development of our health systems, because we can often learn things from the innovation and experimentation taking place in other parts of the United Kingdom. In opposition, I visited Northern Ireland because I was fascinated by the way in which Northern Ireland commissions and provides health and social care together. I wanted to learn more about the experiences in Northern Ireland, good and bad. Such diversity is to be valued and we should not have a one-size-fits-all approach, but I agree with the hon. Gentleman about the importance of collaboration. The Government’s strategy is an example of where that can be really strong and effective.

[Ms Margaret Ritchie (South Down) (SDLP)]

On the Minister’s point about collaboration, is he aware that a drug to deal with atypical haemolytic uraemic syndrome has been approved in England but the same approval has not been given in the devolved institutions, particularly in Northern Ireland?

[Norman Lamb]

I was not aware of that, but I am interested to hear it, and the hon. Lady makes her case powerfully. Before I respond fully to the points made by the hon. Member for Strangford, I want to deal with some of the other issues that have arisen during the debate. Several hon. Members, including the shadow Minister, asked whether the new architecture of the NHS had damaged the co-ordination of work on rare diseases. In many respects, I can reassure hon. Members. There is a danger that if one was coming into this place from afar and hearing the debate, one might think that we were moving from an idealised, perfect scenario into something more troubling. We all know, however, that that is absolutely not the case. The treatment of rare diseases historically has been far from optimal, and the greater involvement of clinicians in the commissioning of care can have real benefits for patients. Until 31 March 2013, far from being a simple matter, specialised commissioning was fragmented across a range of NHS organisations including regional specialised commissioning groups, a national specialised commissioning team and local primary care trusts, which remained ultimately responsible for the specialised health care of their populations. From 1 April 2013, under the terms of the Health and Social Care Act 2012, NHS England became the sole direct commissioner of specialised services, which provides a greater simplicity in the commissioning of services.

[Alison Seabeck]

Will the Minister give way?

[Norman Lamb]

I will continue, because I am conscious of the time. The hon. Member for Poplar and Limehouse (Jim Fitzpatrick) made a valuable contribution. I learned something about trigeminal neuralgia, from which I think I understood him to say that he suffers. He asked whether it would be possible to meet once the report that he referred to is complete, and I would be happy to agree to that, diary permitting. I am sure it will be possible to do so at some point. He made some important points about misdiagnosis, and about the importance of support groups and networks. The internet now provides incredible assistance to people with rare diseases, because they can link up not only with those in their neighbourhood but with people and clinicians globally who can guide them in the treatment of their condition. He also spoke about unnecessary referrals to hospitals and the mental health implications of some rare diseases, and I completely agree with him.

My hon. Friend the Member for Wealden (Charles Hendry) made powerful points about the extraordinary work of so many families, and he mentioned in particular the work of Charlie’s Challenge and Tildy’s Trust. Such families do the most remarkable work, and they are often hellbent on producing a really valuable legacy from their experiences. His point about the Department helping to co-ordinate the work of so many such groups was well made. He also referred to the fantastic work that is going on in Edinburgh university, and I applaud all those involved.

The hon. Member for Plymouth, Moor View (Alison Seabeck) made the point that there is extraordinary variability of service around the country. That is something that the strategy can absolutely address, and I believe we will get powerful results. She referred to her constituent, young James, who suffers from Duchenne muscular dystrophy, and she talked about the importance of transition to adulthood. I focus a lot on mental health, and that transition is often a complete disaster. We need to do far more to improve it.

The hon. Member for Foyle (Mark Durkan) made some important points about collaboration. He referred to the British-Irish Council, and although I have no idea whether his suggestion is possible, I am happy to look into it. He talked about the funding challenge. We are in very tough financial circumstances and often—the contributions of many hon. Members this afternoon have emphasised this—the question is how the money is used, because it is frequently not used effectively. A misdiagnosis usually results in an inappropriate referral to hospital, and a patient goes down completely the wrong track. An enormous amount of money is wasted, and the patient receives very poor care. It is essential to improve the way in which the system works to extract better value. We recently announced integration pioneers in 14 areas of the country. None has had extra money, but they demonstrate that, by co-ordinating their efforts more effectively, they are producing much better results for patients. The shadow Minister was absolutely right that the one thing we should all focus on is the patient—the individual citizen—and their experience of the system.

It is fitting that this debate should happen so soon after the launch of the UK strategy for rare diseases. This strategy is an overarching UK-wide framework, setting out a shared UK strategic vision for improving the lives of all those with rare diseases. It is owned by each country in the UK and commits them to more than 50 actions—I think it was identified as 51—that will deliver better outcomes for those with a rare disease. It means that for the first time we are in a position to make a tangible, co-ordinated difference to those suffering with a rare disease. That is something we can all be really positive about.

As we have heard, one in 17 people will experience a rare disease at some point in their life, with the majority of diagnoses made in childhood. That amounts to some 3 million people in the UK. A disease itself may be rare, but having a rare disease is, alas, not unusual, because there are so many of them—a point made by the hon. Member for Plymouth, Moor View. They are a major cause of illness and make considerable demands on the resources of the NHS and other care services. The strategy for rare diseases is based around the more effective and efficient use of services—a point I made earlier—with better links to research and innovation. As the NHS constitution states, no-one should be left behind because of their condition, be it rare, very rare or yet to be diagnosed. To achieve this, England, Scotland, Wales and Northern Ireland have agreed to deliver the 51 commitments that focus on five areas.

The first is empowering patients—perhaps the most significant of all—making sure that they are listened to, informed and consulted every step of the way. No one knows the condition better than the person suffering from it; too often, they are ignored in a rather paternalistic system. We will continue to work closely with patient groups and others to improve services for rare disease sufferers. We will improve access to knowledge and support networks at UK, European and international level, and we will help patients to participate in rare disease registries. We will look at how those might be developed in England to better capture the patient experience.

Secondly, we want to develop more effective methods for identifying and preventing rare diseases. Carrier testing, preconception and antenatal care, along with newborn screening, all play a part. Rare diseases are often genetic in nature, and so can affect more than one member of the family. This makes it important that testing of other family members, where appropriate, becomes more routine.

The third area is better diagnosis, which has been raised during the debate, and earlier intervention. Too many people still wait far too long to get an informed, correct diagnosis. There are several things we need to address. We need to ensure there is better awareness of rare diseases. That is important across all aspects of health care. Not everyone can be an expert, but ensuring that the possibility of a rare disease is considered when a diagnosis is proving difficult can help. We need to ensure that all doctors are alert to the possibility of a rare disease when they see patients, even if they are not able to diagnose specific diseases. This means including better training on rare diseases in university courses and in professional development at work.

The training and education of clinicians is critically important. Health professionals do not need detailed knowledge of every rare condition, but all medical specialties and multi-professional care teams should have a general awareness of rare diseases so that they can make rapid referrals to specialists in the appropriate field. Making genetic testing more mainstream, harnessing the potential of genomic technologies and focusing on what our DNA can tell us will also help us to reduce the time to diagnosis.

Perhaps the most important commitment is to develop clearly defined care pathways between primary and secondary care and regional and specialist centres. Health care professionals, especially GPs who are likely to be the first point of contact, need to know how to access the pathways for those at risk of rare disease.

Fourthly, we want to see better co-ordination of care. Building on the fantastic NHS genetic services that already exist—this country is well recognised internationally for that—we want to see the development of centres of excellence in rare diseases, providing one-stop-shop services to patients through co-ordinated consultation and treatment schedules. The centres should also be knowledge and skills hubs—concentrating the skills together—that support local delivery of services and facilitate clinical trials and other research projects.

The last area of the strategy, but by no means the least, is recognising the absolute importance of research, which several hon. Members have touched on today. The Government are committed to supporting research into rare diseases. Such research holds the key to improved personalised and targeted approaches to health care. These have the potential to improve the effectiveness and safety of treatments, the speed of diagnosis and patients’ quality of life.

In the UK, we are lucky to have some of the best academic and clinical research in the world. It was no coincidence that Earl Howe launched the strategy at Great Ormond Street hospital last month. The hospital itself hosts a National Institute for Health Research biomedical research centre that continues to lead on experimental medicine, including the discovery of diagnostics and new treatments for childhood diseases. The shadow Minister—if I can briefly divert him from his iPad; I am sure he is catching up on important stuff—made the point about how we ensure that we make the right decisions on research priorities. Ultimately, it comes down to the quality of the proposition that is put forward, but I will write to him and other hon. Members on the issues raised that I have not touched on.

We also want to see more collaboration between patients, health care professionals and researchers, and for that to become normal custom and practice. At that same event, Earl Howe also announced that the National Institute for Health Research is establishing a rare diseases translational research collaboration to translate research into actual practice. As part of the NIHR rare diseases translational research collaboration, researchers will share their considerable resources and world-leading expertise to increase research collaboration and improve treatment and care.

Some £20 million over four years is being invested by the NIHR to fund the NHS research infrastructure focused on deep phenotyping—the gathering of information on the physical characteristics of people with rare diseases. The TRC will build on our British heritage as a world leader in genomics. It will provide national co-ordination to bring those with significant relevant NIHR-funded infrastructure in the NHS together. That will speed up the development of new diagnostics and treatments. That is also why rare diseases is one of the three priority areas for the Government’s initiative to sequence 100,000 whole genomes over the next three to five years. We want to see innovative research and cutting-edge technology translated into real patient benefit.

The strategy for rare diseases will increase access and lead to a more patient-centred, co-ordinated approach to care and treatment, clearly focused on the needs of patients and families. Each country in the UK will develop its own implementation plans over the next few months. We will ask a reconstituted UK rare diseases stakeholder forum to maintain an overview of the implementation of the strategy. The original forum was established earlier this year and comprises policy officials from the four UK countries, service users, industry, regulators and service providers. The forum played an invaluable role in the development of the UK strategy and will now have an ongoing role in monitoring the strategy’s implementation and reporting back on progress.

In England, our key delivery partner is NHS England. The recommendations of the UK strategy for rare diseases that relate to NHS England’s responsibilities for specialised commissioning will form part of the scope of NHS England’s five-year strategy for specialised services—an £11.8 billion plan to co-ordinate specialist services.

I want to thank all hon. Members for their contributions to a very useful debate. On all the other points that I have not been able to deal with, I will write to hon. Members.

[Hugh Bayley (in the Chair)]

I very much look forward to seeing some of the Front Benchers when we scrutinise the Care Bill in the weeks to come.