Call for more action on rare diseases

18 March 2010

The annual report of the Chief Medical Officer for 2009, released this week, highlights the issue of rare diseases. These diseases, many of which are genetic in origin, are typically chronic, progressive conditions that begin in childhood, including neurological, muscular, heart and metabolic disorders.

Under the title ‘Rare is common’, CMO Sir Liam Donaldson notes that whilst individually rare (affecting fewer than five in every 10,000 people), the large number of different rare diseases means that collectively they are significant – affecting one in 17 people (around 3 million) in England alone, and more than 30 million in Europe. In particular, the report highlights the problems encountered by affected children and adults in obtaining an accurate diagnosis, and accessing appropriate, specialist health services to help them manage their conditions.

The report calls for appointment of a National Clinical Director to oversee treatment and surveillance of rare diseases; improved coordination of specialist services via a strengthened network of reference centres; more funding for research and international cooperation to share information about these conditions; training of additional specialist health professionals to meet future needs; and raised public and professional awareness about rare diseases.

Speaking in The Times newspaper, Sir Liam said: “These are the Cinderella conditions...This is about patchy and fragmented services, poor co-ordination and lack of clinical awareness about the diagnosis. It’s not just poverty of access, but poverty of visibility and representation”.

In a letter also published in The Times, PHG Foundation Programme Director Dr Hilary Burton welcomed Sir Liam’s focus on rare diseases and noted that in fact in many cases: “diagnostic tests are already available, and there is interest in expanding the conditions currently included in the panel of diseases for which newborn babies receive routine screening”.

Currently in the UK, newborns receive screening for phenylketonuria (PKU), congenital hypothyroidism, sickle cell disorders, cystic fibrosis and medium-chain acyl-CoA dehydrogenase deficiency (MCADD). The purpose of early screening for such conditions is where early diagnosis can improve health outcomes for the affected child, in some cases with profound effect – for example, prompt dietary control of PKU prevents irreversible mental retardation.

The UK Department of Health has also been considering plans to speed access to new therapeutics for patients with rare diseases (see previous news).

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