Funding rare disease treatments in the UK – navigating the labyrinth

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With the appraisal process for highly specialised treatments in the UK described by one NHS insider as ‘impenetrable’, and The MPS Society’s (The Society for Mucopolysaccharide Diseases) recent launch of a petition calling for the reinstatement of the procedure which was scrapped as part of the Health Social Care Act (HSC) 2012, this article investigates the path to market for such drugs and the effects on patients.

Patients with rare diseases and the companies developing specific treatments for them both need to understand the process by which a treatment becomes accessible in the UK.

The first orphan-designated treatments were launched in 2001, for a complex condition called Fabry disease (Replagal, TKT Europe [now Shire] and Fabrazyme, Genzyme [now Sanofi]).

How far have we come since then in developing a clear pathway to bringing licensed treatments to the patients who need them? At a recent meeting discussing the evaluation of licensed rare disease treatments (so-called Highly Specialised Technologies, HSTs) one NHS insider used the term ‘impenetrable’ to describe the commissioning arrangements for HSTs.

To describe all of the arrangements for commissioning rare disease treatments in the UK would require a manual, such is their complexity, but some of the main pathways and the issues shaping their development will be covered here.

Seven ways to treatment

A provision of the HSC Act (2012) was the establishment of a national body to take responsibility for commissioning treatments for rare conditions. However, not only are we far from that ideal, but we are moving further away from it.

“It is not clear which path should be used for any particular treatment and the situation is not helped by the fact that fundamental processes are still in development”

Up to seven evaluation routes are available for rare condition treatments for provision under the NHS. In addition to NHS England and reimbursement gatekeeper the National Institute for Health and Care Excellence (NICE), a wide assortment of bodies and committees is involved. It is not clear which path should be used for any particular treatment and the situation is not helped by the fact that fundamental processes are still in development. These even include criteria to guide the selection of treatments for appraisal.

This inadequate state of affairs is due, in part, to the transition between the former agency responsible for appraising ultra-orphan treatments (Advisory Group for National Specialised Services – AGNSS – set up in 2010 to review technologies for patient populations below 500) and transfer of its responsibilities to NICE. The handover resulted in the controversial NICE decision to freeze the commitment made by AGNSS to make a treatment available to patients with atypical haemolytic uremic syndrome (aHUS); AGNSS had already reviewed the evidence for the treatment eculizumab and given it a positive appraisal. Following considerable delay, NICE eventually (September 2014) gave its agreement to the original decision and recommended that eculizumab be nationally commissioned for patients with aHUS.

Treatment access in practice

Once a new treatment for a rare condition has been licensed, how is it decided whether a patient can obtain it under the NHS?

The answer depends on where in the UK the patient lives, because separate NHS organisations cover England and Northern Ireland, Wales, and Scotland.

To simplify the discussion and cover the bulk of the UK population, we will consider the situation in England for non-cancer treatments.

“NICE has appraised relatively few orphan treatments . . . and it has stated that it will have the capability to appraise no more than three HSTs per year”

If the treatment is appraised by NICE (and ‘recommended’) then, in theory, it must be made available to the patients who meet the criteria. However, historically, NICE has appraised relatively few orphan treatments (just four for non-cancers) and it has stated that it will have the capability to appraise no more than three HSTs per year.

NHS England offers another route to the appraisal of HSTs. According to the Genetic Alliance UK, NHS England is likely to become the ‘primary’ route by which patients in England will access their treatments. More significantly, NHS England is the body which commissions treatments for patients with rare conditions and handles the budget. The logjam here is that NHS England has not decided the criteria for selecting which treatments to appraise. An NHS England representative recently acknowledged that there are in excess of 60 HSTs requiring review once the new process for treatment prioritisation is in place.

Given that orphan diseases are a major focus for the pharma industry R&D, the backlog of treatments requiring appraisal is likely to rise.

Organisational barriers

One of the barriers to the efficient appraisal of HSTs is organisational. For example, NHS England will not evaluate a new HST unless it has a commissioning arrangement in place for the relevant patient group. In order to do this, a group called PSSAG (Prescribed Specialised Services Advisory Group) has to develop a service and have it evaluated and funded by NHS England before the HST can be evaluated – by NHS England. This seems overly bureaucratic and time-wasting given that frequently the service to be commissioned amounts mainly to the provision of the medicine.

Individual Funding Requests – access route of last resort?

So, what options remain for a patient with a rare disease and for which there are no commissioning arrangements under the NHS?

Individual Funding Requests (IFRs) are managed by NHS England. IFRs are intended for a relatively small number of ‘exceptional’ patients (compared to the main cohort) needing a specific drug, up to a maximum of 20 patients. In theory the unfortunate 21st patient to make an application for a particular treatment will be refused, although there is provision for the CRG (Clinical Reference Group) to develop a policy to commission the treatment for other patients. However, given the severity of their medical conditions, even the ‘fortunate’ first 20 patients are likely to be least able to ‘fight’ for their treatment.

The future

A frustration felt by patients, carers and representatives in dealing with the bureaucracy surrounding access to the treatments they need is the lack of transparency concerning the decisions which have such a huge impact on patients’ lives. It is a high priority for patients to understand the decisions as part of improving the role of patient evidence in deciding which treatments are to be funded. This is the aim of the Patient Charters which the Genetic Alliance UK has developed for consideration by NICE and NHS England.

The outlook for clarity in decision making and patient access could be better. The budget for specialist commissioning is hugely overspent. According to the 2013/14 NHS England Annual Report, specialist commissioning was the most significant area of overspend, with the service growing at an ‘unaffordable rate’. The budget overspend is now the top priority in specialist commissioning. Simon Stephens, chief executive of NHS England, spoke in July 2014 about slimming down the nationally commissioned portfolio of specialist services and returning them to local (Clinical Commissioning Group) control. With this backdrop the pressure for private/public partnership and Patient Access Schemes will grow.


A combination of budget squeeze and underdeveloped decision-making processes is likely to widen the gulf separating patients with a rare disease from the treatment they need, especially if it is a newly-licensed treatment.

No patient group I know would put its members ahead of others in the scramble for a limited pot. What is expected is a balance between equity of access with affordability in a way that is not only fair to all groups of patients but is seen to be fair as part of a transparent and efficient set of arrangements.

About the author:

David Bennett has had an extensive career in pharmaceutical marketing, with rare disorders having been his primary focus for many years, starting with the medical marketing of human growth hormone in the late 1980s. He worked closely on funding issues during a period of changing NHS structures. Since 2000, with the first orphan drug launch (for Fabry disease), he has supported clients in the orphan sector, working with relevant disease communities and developing programmes aimed at patient detection, referral, advocacy, medical education and reimbursement. He now works as a freelance consultant in the field.

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