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An insight into issues around rare diseases: An interview with Christian Hill

There are around 6–8,000 rare diseases affecting 5 or fewer people in 10,000. In the UK, around 25,000 people have any given rare disease. If the disease population is no more than 500 patients per year, NHS England conducts treatment under highly specialised services. The interventions required to treat patients are not available across all hospitals or providers. Instead, specialised services are restricted to specialist hospital trusts, with a catchment population of around 1 million.

Aryan Asaadi, Associate Consultant at MAP BioPharma, has been speaking to Christian Hill, CEO of MAP BioPharma, to get his insight on the issues around rare diseases. 

Which are the main bodies that help NHS England develop the right services for patients with rare diseases?

Clinical reference groups or NHS England, particularly the specialised services team within NHS England, identify potential services that could be considered for NHS England’s responsibility, rather than clinical commissioning groups. The actual decision on which services get prioritised is left to the prescribed specialised services advisory group. NHS England then scopes and commissions services from providers. The most recent example of this is hand transplants, which are relatively rare, very complex and difficult to gain expertise in any one centre.

What problems do patients typically face when dealing with specialised services?

Primarily, a lengthy time to diagnosis. It can take a long time to get diagnosed in the first instance. Patients can require multiple touch points with clinicians, different clinical centres, or secondary tertiary centres of excellence which could be hundreds of miles from home. They are often misdiagnosed along the way, not due to any fault of the health service, but because things are very complex, and their condition could be any one of several things. They can have a lack of support, which demonstrates how important patient groups are in providing their experience, knowledge and ways of coping. Patients can be within the NHS system for a long time, not getting the right diagnosis, and then when they’ve got a diagnosis there may be not treatment available for a period of time. They may have a loss of hope which is very difficult for them to cope with. If there is a treatment available sometimes the costs are quite high, and patients in some instances feel quite guilty, ‘how am I worth hundreds of thousands or even million plus for certain treatments?’.

The NHS has set out to be one of the leaders of research and development in rare diseases. Do you think the NHS is on the right track to deliver this?

Difficult question. Not entirely, in my opinion, but there is no question that they have a very difficult job to do in prioritising and sometimes declining funding for treatment. We are very fortunate that we have the highly specialised technologies (HST) programme via NICE. They have built on the UK’s expertise in rare diseases all the way back in the 90’s, and then in the early 00’s we had the national specialised commission advisory group. That’s then morphed into another organisation and now we have the HST programme via NICE. They’ve tried to learn from all of those different processes and procedures relating to lots of different rare conditions, and they’ve managed to account for value in ways that most HTA processes find difficult across Europe, so it’s a bit of a leading light across the world.

Do you think patients with rare diseases should be treated differently to other patients?

Ideologically, no. In a perfect world we would have equity for everybody. So, anybody with any condition should be able to access the NHS, which is the way it was originally intended to be delivered. However, in practice, some elements of rare diseases, such as value of quality of life, are difficult to assess. The current quality of life instrument preferred by NICE is the EQ5D. Some people have said it’s quite a blunt tool, but when you try and find an alternative it’s very challenging, so there’s not an easy solution. Our orphan medicines report reviews this area of difficulty and proposes five recommendations to help ease the struggle. The HST program is working well beyond its capacity, and the single technology appraisal (STA) programme is increasingly being faced with challenges of assessing value in rare diseases. If we can harness what’s happened in the HST programme and help bring that across with some adaptations or flexibility in the STA programme, maybe patients with rare diseases can be treated a little differently in how the medicines to treat their conditions are assessed, so that in the long term they will receive no different treatment from everybody else.

More fascinating content on rare diseases and orphan medicines is available on MAP Online.

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Christian Hill

Chief Executive Officer


Aryan Asaadi

Associate Consultant
MAP Online & Health Economics and Outcomes Research

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