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Medical Research: International Rare Diseases Research Consortium

Volume 743: debated on Thursday 28 February 2013


Asked By

To ask Her Majesty’s Government what support, if any, they are providing for the International Rare Diseases Research Consortium.

My Lords, the UK is a global leader in rare diseases research. The Government are pleased to be engaged with activities marking Rare Disease Day today. The Department of Health supports the International Rare Diseases Research Consortium. The National Institute for Health Research is a member of the consortium and has actively engaged with the work of the consortium from the outset. The Government are committed to providing faster diagnosis and better treatments for people with a rare disease. We recognise the importance of international collaboration in rare diseases research, and of its translation, in achieving this goal.

My Lords, I declare an interest as a sufferer from myelofibrosis, which is one of the 6,000-plus rare diseases that have been identified which affect 3.5 million people in the UK. May I ask my noble friend to comment on how the £100 million genome sequencing project is expected to contribute to the understanding of rare diseases? Secondly, will the rare diseases stakeholder forum that he announced yesterday consider the value to both patients and the NHS of care co-ordinators, which was emphasised by the NGO Rare Disease UK?

My Lords, we have just announced the establishment of a rare diseases stakeholder forum. As my noble friend rightly mentions, it will be established shortly to bring together a wide range of stakeholders, including organisations representing those with rare diseases, to ensure that the patient voice is part of the discussion that we must have leading up the publication of the UK plan for rare diseases. The 100,000 genomes initiative, which my Department is funding, is about pump-priming—the sequencing of the genomes of 100,000 NHS patients—with the purpose of translating genomics into the NHS. This capacity will be allocated specifically to cancer, rare diseases and infectious diseases. The service design work will be completed by June and we aim to put contracts in place by April next year.

My Lords, does the Minister accept that recent research in genomic medicine has led to the progressive introduction of orphan and ultra-orphan drugs, some of which are capable of reversing partially or completely the genetic effect of many such rare diseases—not least, for example, muscular dystrophy? However, these drugs are extremely expensive and are therefore likely to be commercially unsuccessful because they help only a relatively small number of patients. Now that the Government have abolished the Advisory Group for National Specialised Services, can the Minister assure the House that, when responsibility for providing those drugs on the NHS falls to the national Commissioning Board on the advice of NICE from April this year, those rare diseases and their drugs will be given appropriate priority?

My Lords, yes I can give that assurance. As the noble Lord will know, we laid regulations specifying those specialised and highly specialised conditions which the NHS Commissioning Board will be responsible for commissioning. I can also reassure him that the focus on research into rare conditions will not be lost. Indeed, I am sure that he will be aware that the National Institute for Health Research has recently specifically invited submission of research proposals into interventions for very rare diseases. The call encouraged multidisciplinary research proposals as well as study designs and approaches to recruitment of patients.

My Lords, I declare my interests in the Register in the health service. Following on from the previous question, I understand that the commissioning costs of rare diseases will be met nationally by the NHS Commissioning Board. However, when patients require regular medication, which would presumably be prescribed by their GP, will funding responsibility fall on local clinical commissioning groups? If so, will they be given specified resources to fund what are often very expensive treatments?

My Lords, the funding for expensive treatments will be very much the responsibility of the Commissioning Board. However, of course the noble Lord is right, because a patient with a rare disease will need to be treated along a pathway of care, some of which will be specialised and some of which will be more routine. It is therefore important that we build into our UK plan for rare diseases an awareness of that pathway so that this is a seamless process. The commissioning must be joined up between the board, clinical commissioning groups and, indeed, local authorities that provide social care.

My Lords, I thank my noble friend the Minister for his interest in rare conditions. I declare an interest as my wife, like many others, has suffered from birth from arthrogryposis, a neuromuscular condition. She received a correct diagnosis only at the age of 52 years. Even now, in her 70s, she is struggling to receive appropriate treatment. Would the Minister consider seriously Rare Disease UK’s recommendation for designated care co-ordinators to oversee the situation to ensure consistent treatment and to provide single oversight to help patients and to avoid wasting resources and duplication within the NHS?

I am grateful to my noble friend and I extend my sympathies to his wife. Unfortunately, with many very rare diseases, it often takes a great deal of time for a fully fledged diagnosis to be arrived at. I welcome the suggestion put forward by Rare Disease UK for co-ordinators and we will certainly look at that idea positively. I can tell him that the imperative to look at rare developmental disorders in children is the focus of a project that the NIHR and the Wellcome Trust are funding through the Sanger Institute in Cambridge. Scientists are analysing the genomes of 12,000 children with developmental disorders who could not be diagnosed following routine genetic evaluation. We are hopeful that that will produce some interesting results.

My Lords, I declare an interest in that my university is involved in finding treatments for some rare diseases. An international collaboration has set the ambitious goal of finding treatments for 200 rare diseases by 2020. One of the important research areas has already been mentioned, which is the sequencing of the genome of patients with rare diseases. The other area, which alludes to the question asked by the noble Lord about the care of those patients, is that of finding new diagnostics so that we can diagnose those diseases early. What are we doing through the NIHR or through biomedical research centres to encourage the development of new diagnostics for those diseases?

My Lords, most of the NIHR biomedical research centres are conducting research on rare diseases, including on diagnostic biomarkers, and I have a rather long list of projects which the NIHR is funding. The diagnosis of a rare disease, as the noble Lord rightly mentioned, is often key to ensuring early intervention and the correct treatment. I can tell him that my department is directing considerable resources towards that, and I would be happy to write to him with the details.