Wednesday, 21 April 2010

Rare diseases

The Chief Medical Officer’s annual report on the state of the nation’s health and wellbeing always has some important nuggets, often allows a peak into future policy areas and over the years has focussed on a number of topics very relevant to kidney care including hospital acquired infections, health inequalities and transplantation.

In his last report, Sir Liam Donaldson highlights the quality of care and inadequate service model for many people with rare diseases. The charge is that the NHS has not kept pace with the explosion in the knowledge about these conditions. This is definitely true for many primary kidney diseases such as Cystinosis, renal tubular acidosis and even polycystic kidney disease to name a few. Individual rare diseases affect in the region of 5 in 10,000 people. But taking all the different forms of rare disease together, it’s a different story. In all, 1 in 17 people in England has a rare disease (approximately 3 million people); rare diseases are often severe, chronic, difficult to manage and diagnosed late. Many people do not have access to specialist services. Rare diseases are also neglected by pharmaceutical companies, who are reluctant to invest in new treatments. But molecular clinical science is providing new insights into the underlying mechanisms of injury and repair leading to a better understanding of these diseases including the rare kidney diseases. In turn, new therapeutic targets are emerging and drugs that can radically transform the natural history and outcomes are becoming available.

Liam Donaldson recommends

  • Strengthening the network of reference centres for rare diseases to enable better coordination of specialist services, including the transition from paediatric to adult services.
  • Ensure that adequate numbers of specialists are trained so that future service needs can be met.
  • Appoint a National Clinical Director for rare diseases to oversee the development of clear standards and pathways for the treatment and surveillance of rare diseases with national registers to support service planning and delivery as well as research.
  • Strengthen research, including translational research with economic incentives to develop and market medicines for the “orphan diseases”.
  • Raise public and professional awareness of this neglected group of diseases.
  • Support international collaborative efforts to share information and resources for rare diseases.

If I didn’t know better I would think that the CMO was one of the co-authors of the draft Renal Association and British Association of Paediatric Nephrology report “Rare Kidney Diseases: an integrated strategy for patients in the UK” that was put together by the steering group after a one day, yes one day, event but also with a lot of pre-work and planning back in September. I am hoping the final renal rare diseases report will see the light of day soon. It will provide a framework for work in this area and I would argue could be a model for other services.