Health: Rare Diseases

Lord Patel Excerpts

Tuesday 3rd March 2015 Lords Chamber

[Lord Patel (CB)]

My Lords, it is nice to see the noble Lord, Lord Rogan, looking so well. The thought that he might have a platelet count of two, which I have never come across, surprises me. I am pleased that his treatment is working. I thank the noble Lord, Lord Turnberg, for initiating this debate. Listening to him and to the comments made by the noble Lord, Lord Walton of Detchant, it is clear that the system of funding for treatments is not working and neither are the services that are being delivered, as has just been highlighted by the noble Lord, Lord Rogan, in his words about postcode lotteries. I shall focus in my remarks on the need for greater collaboration and cohesion in the planning and management of services for the rarest conditions—the extremely rare diseases.

With greater national collaboration, treatments for rare diseases can be taken up more quickly, with swifter patient access. Over the past two days I have met many members of the Specialised Healthcare Alliance. As a coalition of more than 100 patient-related organisations and 15 companies, the alliance has been campaigning on this issue for a number of years and has clear priorities for improvements to benefit patients. Collaboration is extremely important for these services. We know that very rare diseases affect only a small number of patients who may well be living in any part of the United Kingdom. Services for these patients cannot sensibly be available in every local hospital. Highly specialised services that typically cater for fewer than 500 patients in England can be provided in only a small number of hospitals across the country, partly due to the sophisticated expertise involved in delivering those services. I am familiar with the work undertaken in my own hospital where very complex dermatological testing is conducted on patients from across the UK. It is a member of the UK Genetic Testing Network. Indeed, networking arrangements of this kind are a vital component of highly specialised care delivery. It is therefore crucial to strengthen networking arrangements of all types, be they between specialist centres as in the UK Genetic Testing Network or between specialised centres and local hospitals based closer to where patients with rare conditions live.

The complex mix of highly specialised care delivery I have described requires sophisticated planning and oversight on the part of commissioners. It is in this area that concerns have been raised. Many are aware of the good work that was undertaken by the Advisory Group for National Specialised Services. Prior to 2013, it developed multidisciplinary expert advice on highly specialised services. The work of AGNSS and the national specialised commissioning team which it advised covered many areas of service delivery and management. It reviewed potential service developments and brought in specialist expertise to consider whether they should be prioritised for funding. The expertise included input from expert clinicians, patient representatives, health economists, health ethicists, commissioners and others. This function has now passed to NHS England. However, apart from a weakened advisory group for these services, all decision-making takes place within the context of specialised services as a whole. This means that services for the smallest patient populations can be competing for resources with very large services. There are also concerns that the expertise formerly vested in AGNSS is not present within these new decision-making processes.

AGNSS also appraised new treatments for rare diseases, many of which are inextricably linked with the associated services. Again, it brought a variety of expertise to bear, as well as an appreciation of the different paradigm for appraising those treatments, which often cannot produce the kind of randomised control trial evidence that is seen for more common therapies due to the small number of patients who are involved. This function has now been passed to NICE, which has been asked to develop a bespoke, highly specialised technologies appraisal process and methodology. While NICE’s rigour in appraising medicines is not in doubt, its ability to run two separate processes with vastly different QALY thresholds may present a challenge. It is also crucial that NICE should collaborate extremely closely with NHS England, given the strong links between treatments and services for the rarest conditions.

Also, the national specialised commissioning team used to commission the providers of highly specialised services directly. This meant that a single national team oversaw delivery and assured quality across the country. Should one provider experience problems, the national team would be aware of it and could liaise with other centres to ensure that they responded accordingly. Now the function is spread across a number of different teams all around the country without any clear national leadership. This involves greater complexity and, most importantly, introduces more clinical risk for these services. NHS England’s ability to evaluate the outcomes of its commissioning, including the outcomes arising from new treatments for rare diseases, would also be strengthened if this was rectified. Greater cohesion in the appraisal, planning and delivery of services for patients with rare diseases is crucial. I hope the Minister will be able to provide some specific assurances on each of the functions that I have outlined above.

The noble Lord, Lord Turnberg, referred to the problem of access to medicine. As the noble Lord, Lord Walton, referred to, there are seven routes through which licensed medicines for rare conditions can be evaluated. NICE’s topic selection criteria do not currently recognise conditions defined by genetics, biomarkers or a difference in clinical presentation. This means that the full range of medicine that could benefit patients with rare conditions is ineligible for HST evaluation. Let me give you an example. Ivacaftor, or Kalydeco, is a medicine developed to treat 5% of cystic fibrosis patients and their specific genetic mutation. NICE’s current criteria mean that it would not be available to patients.