Intended for healthcare professionals

Letters Care of rare diseases

Transfer of high cost drugs to NICE risks fragmentation of care of rare diseases

BMJ 2012; 345 doi: (Published 24 August 2012) Cite this as: BMJ 2012;345:e5727
  1. Chris J Hendriksz, clinical lead and consultant transitional metabolic medicine1
  2. On behalf of D A Hughes, A B Mehta, J E Wraith, S E Jones, U Ramaswami, P Deegan, R Lachmann, E Murphy, T Hiwot, S V Vijay, F Stewart, M Cleary; Society for Mucupolysaccharide Diseases, Association for Glycogen Storage Disease (UK), Gauchers Association, Niemann-Pick Disease Group (UK)
  1. 1Salford Royal NHS Foundation Trust, Clinical Science Building B105, Salford M6 8HD, UK
  1. chris.hendriksz{at}

It seems like déjà vu for those affected by rare diseases, and once again political change is to blame. Only two years ago the chief medical officer stated: “Services for those with rare diseases are fragmented and often poorly coordinated.”1

Commissioning of services for conditions individually affecting only 10% of the population presents challenges to value, fairness, and equity. Since 2005 the establishment of a UK National Commissioning Group for Rare Disorders (latterly National Specialist Commissioning Team) and Advisory Group for National Specialised Services (AGNSS) has become a model for evidence based evaluation and delivery of both drugs and services to which many countries aspire.2 This process has been open and transparent using the same expertise to evaluate funding for service provision and treatments, thereby avoiding inefficient and artificial separation of commissioning for drugs and services.

With transition of services to the National Commissioning Board about to occur we are concerned about the possibility of the loss of AGNSS or a similar organisation protecting services and ultra-orphan drugs. These arrangements have also promoted the UK as a preferred provider of pharmaceutical industry sponsored clinical trials, thereby contributing research resources and improvements to NHS clinical practice.

Professor Sir Michael Rawlins, chairman of the National Institute for Health and Clinical Excellence (NICE), said: “As with all our work, we will be consulting widely with patients, carers, clinicians, commissioners and industry to ensure that we develop a robust and transparent process for making decisions about these highly specialised drugs.”3 This is reassuring, but as clinicians and patient organisations we are concerned that this consultation has still not happened with us. Fragmentation of services and drugs seems to be reintroduced, with NICE taking on drug assessment and services being handled by the new National Commissioning Board.

We plead, “If it’s been fixed, don’t break it,” and ask the secretary of state for health, Andrew Lansley, to preserve services for ultra-rare disorders.


Cite this as: BMJ 2012;345:e5727


  • Competing interests: CJH has received honorariums, travel grants, and speaker’s fees and is a member of advisory boards for Actelion, Biomarin, Genzyme/Sanofi, Shire HGT, MPS Society, NPDG. He is also a consultant for Actelion and Biomarin. He is currently involved in clinical trials with Amicus, Actelion, Biomarin, Genzyme/Sanofi, Shire HGT, Synageva. Rarity forces a close working relationship between all the clinicians, patient organisations, and multiple industry partners, and many of the authors will have received educational grants, honorariums, and help with service costs from these companies or be involved in clinical trials by them.

  • The full response is at


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