Perspective: Rare is common

19 March 2010

By Jim Killgore, editor MDDUS Summons

"Common things occur commonly" – it’s a truism that has been drummed into generations of medical students developing their diagnostic skills.

Or as one clinician has said: "when you hear hoof beats think horses not zebras" (unless of course you’re in Kenya).

But a curious paradox also proves true – rare is common.

This was highlighted earlier this week when Sir Liam Donaldson, Chief Medical Officer of England, published his 2009 Annual Report. Among five "key areas of public health" he addressed the dilemma faced by NHS patients suffering from rare conditions.

A disease is considered rare when it affects fewer than five in every 10,000 people. The organisation, Rare Disease UK, points out that there are more than 6,000 rare diseases affecting 3.5 million people in the UK. This means one in every seventeen of us will be affected by a rare condition.

Rare Disease UK is a joint initiative of various organisations including the Genetic Interest Group (a UK alliance of 130 charities supporting patients affected by genetic disorders). It was established in November 2008 following the European Commission’s Communication on Rare Diseases: Europe’s challenges. This document highlighted the unmet needs of people with rare diseases and their families.

Not surprisingly, rare diseases are commonly misdiagnosed. One study found that over a third of people with rare diseases were initially misdiagnosed and some experienced delays of up to 30 years from first symptoms to final diagnosis. Clinical expertise and resources for such patients can be scarce and complex treatments may involve several specialists. Health professionals may understandably have little or no experience in identifying optimum care pathways for rare conditions, leaving patients feeling frustrated and 'stuck' in the system.

One parent quoted on the Rare Disease UK website said: "When our baby daughter was diagnosed with a rare chromosome disorder, a doctor sat down with us and showed us the results of her genetics test which had the words 'Abnormal Result' stamped on them. The doctor said he had never seen another child with the condition and therefore was unable to answer any of the questions which were swimming around in our heads."

And a healthcare professional working with an affiliate of the Genetic Interest Group reported: "Sixteen years on from the formation of the Gorlin Syndrome Group, we still have families contacting us with concerns about the lengthy delays in diagnosis despite many years of treatment. Some people have diagnosed themselves or their children by searching the internet and arriving at our website. Other patients tell us about the reluctance of GPs to refer to genetic services and delays in accessing timely treatment."

In June 2009 EU Health Ministers recommended that all member states develop and implement plans or strategies for the treatment of rare diseases. This move was welcomed by Rare Disease UK whose aim is to create a draft strategy for the UK. The objective is to coordinate:

• research into rare diseases
• prevention and diagnosis of rare diseases
• treatment of rare diseases
• information on rare diseases for patients and the public.

One obvious problem is the cost of developing medicines for treating rare conditions. Rare Diseases UK claims it is a misconception that the healthcare budget would be overwhelmed with a 'tidal wave' of expensive new medicines for rare diseases. It points out that each year around 100 medicines in development receive 'orphan' designation, which is the term used in legislation to describe a drug indicated for a rare disease. Orphan drug status gives manufacturers various development incentives including waiver of licensing fees and extended patent protection. But it’s a controversial area for government bodies such as NICE.

As J K Aronson, chairman of the editorial board at the British Journal of Clinical Pharmacology, has written: "The tension between equity and affordability is unbearable and pulls in both directions – those with rare diseases deserve to be treated but those with common diseases should not be expected to subsidize them."

He draws the conclusion that in Europe "we need more incentives to develop orphan drugs and to develop them cost effectively, so as not to compromise our ability to manage other diseases."

So it’s no doubt partly in response to calls by organisations such as Rare Disease UK that the NHS in England has formulated its new strategy. In the Annual Report Sir Liam Donaldson calls for:

• the appointment of a National Clinical Director for rare diseases
• a strengthened network of reference centres for rare diseases to enable better coordination of specialist services
• recruitment and training of adequate numbers of specialists so that future service needs can be met
• strengthened research to develop and market medicines for "orphaned" rare diseases
• increased public and professional awareness of this neglected group of diseases.

Sir Liam said: "While many excellent services are provided for those with rare diseases, this is not the norm and services are inconsistent across the country. Improved coordination and management is needed to ensure that excellence becomes the standard, no matter where a patient lives."

And in a further development today, Health Minister Mike O’Brien announced that patients with very rare conditions will be given access to drugs and services not previously available on the NHS.

The proposals follow two consultations and mean that a small number of drugs and treatments for very rare conditions, that are not yet appropriate for the NICE appraisal process, can now be considered for use in the NHS.

Access to these drugs and services will be increased through two initiatives:

• the creation of a three-year £25m Innovation Pass pilot as outlined in the Office for Life Sciences (OLS) Blueprint – to help patients with rarer diseases access highly innovative new drugs which are not yet appraised by NICE. A Government notice of procurement will be published in the Official Journal of the European Union formally inviting expressions of interest for the pilot
• setting up a new expert advisory group – to strengthen the existing arrangements for commissioning services nationally for extremely rare conditions and to ensure that the system is more transparent and robust.

Mr O’Brien said: "I am extremely pleased to see support for proposals that will make a real difference to patients with very rare and extremely rare conditions by helping improve access to drugs and services not previously available to them."

Time will tell if such commitments will make a substantive difference to the rare but common.