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Education And Debate

Commissioning for rare diseases: view from the frontline

BMJ 2005; 331 doi: (Published 27 October 2005) Cite this as: BMJ 2005;331:1019
  1. Amanda Burls, senior clinical lecturer in public health and epidemiology (,
  2. Daphne Austin, consultant in public health medicine2,
  3. David Moore, senior research fellow1
  1. 1West Midlands Health Technology Assessment Collaboration, Department of Public Health and Epidemiology, University of Birmingham, Birmingham B15 2TT
  2. 2West Midlands Specialised Services Agency, Birmingham B16 9RG
  1. Correspondence to: A Burls

    Deciding whether to fund treatments that do good one by one tends to lead to a positive decision. However, this can cause wider harmful effects, as West Midlands' experience in the funding of enzyme replacement therapy for lysosomal storage diseases shows


    Orphan drugs tend to be expensive for two reasons. Firstly, development and production costs need to be offset in low volume sales, and, secondly, the monopoly position of manufacturers (entrenched within legislation to provide an incentive to develop treatments for rare conditions) permits large profit margins. Historically, the NHS has paid for expensive orphan drugs. It could do so because treatments for these diseases were so rare that the effect on health services was negligible. This policy is increasingly being questioned. As more and more expensive orphan drugs come on to the market, the impact on other health services is becoming substantial. In addition, since the establishment of the National Institute for Clinical Excellence (NICE) in 1999, the idea that technologies should reach minimum standards of cost effectiveness has become widely accepted.

    However, efficiency is not the only principle in resource allocation: we also value equity and caring. Indeed, the abrogation of the principle of efficiency (by more generous reimbursement of treatments for rare diseases) is usually defended on such grounds. However, as we move towards more explicitness in decision making, which requires us to show that principles are being applied consistently, incoherence and tensions within the equity argument have begun to surface. McCabe and colleagues cite various reasons given in support of a more generous reimbursement policy for orphan drugs and refute each on theoretical grounds.1 We approach the issue from a different perspective, that of the frontline commissioner. We tell the story of what happened during 2002-5, when commissioners responsible for health services in the West …

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