Rare diseases : A hidden priority

European Organisation for Rare Diseases (EURORDIS)

Until recently, public health authorities and policy makers have largely ignored rare diseases. It is time to afford them higher priority. Here is why.

The paradox of rarity

The seemingly few people affected by anonymous diseases did not rank high on the priority list of health budget allocations. So far what many have failed to realise is that, while patients are few, collectively they represent more than 60 million people in Europe and the US alone. Moreover, medical research on rare diseases is fast becoming an important source of advances in medical technology and genomics, which could hold the key to future treatments for all diseases.

Rare diseases, by definition, affect few people, tending to fall off the health policy radar screen.  However policy makers looking to contain long-run healthcare costs are doing themselves a great disservice by ignoring this category of diseases which affects some 30 million people in EU 25 alone, a figure equivalent to the combined populations Belgium, Luxembourg and the Netherlands.

A rare disease is a disease that occurs infrequently or rarely in the general population. In Europe, for example, a rare disease is defined as affecting less than 1 in 2,000 citizens, and in the US as affecting fewer than 200,000 patients. Yet for combined population of 800 million, this could range from a few hundred to as many as 400,000 individuals for any single rare disease.

Despite this number, the rare disease patient is the orphan of health systems, often denied diagnosis, treatment and the benefits of research.  

For patients, families and individuals affected by rare diseases, gaining access to services is often extremely difficult. Finding expert help is too frequently a matter of luck rather than a consequence of systematic planning by national health systems. Paradoxically, although any given rare condition may only affect a few hundred, there are between 5000 and 7000 distinct rare diseases identified to date, meaning that the number of families in need of health services is vast. And, because the diseases share a number of common characteristics, it is possible to develop public policy and actions to improve access to information, diagnosis, care, treatment as well as to promote biomedical research and R&D in medicines.

Rare diseases are often life-threatening. They are chronic, progressive, degenerative and disabling. People living with rare diseases face many common challenges, such as delayed or inaccurate diagnosis, difficulty accessing care and lack of knowledge or access to expertise. For the individual sufferer this is a disaster, and for an economy it represents a significant direct and indirect cost.

When a disease is diagnosed on time and managed well, people are often able to maintain a normal quality of life, meaning that timely diagnosis and correct treatment of rare disease patients is not only ethical but cost effective. A survey of haemophilia patients in the Netherlands showed that, in 2001, patients who received treatment remained in employment 17 years longer than those who did not.  It also showed that the cost of hospitalisation when treatment is denied can reach €100,000 per year. Misdiagnosis and delays in diagnosis of rare disease patients often lead to increased expenses and waste for health care systems due to inadequate treatments. And the numbers can balloon quickly when a number of rare diseases are taken together.

Nevertheless, a European survey on diagnosis and access to care, revealed that 40% of rare disease patients were initially misdiagnosed, leading to severe consequences including inappropriate and costly medical interventions such as  surgery and psychological treatment. In that same survey 25% of patients reported waiting between 5 and 30 years from the time the first symptoms appeared to a confirmatory diagnosis of their disease.

Investing in rare diseases makes sense. Findings on rare diseases often open new avenues for research into common diseases and lead to the development of new therapies and drugs.  Partly due to incentives included in the 1983 US Orphan Drug Act and 1999 EU Regulation on Orphan Drugs, there has been a blossoming of bio-technology in recent years. This has stimulated innovation and enhanced OECD countries’ competitiveness in a knowledge-based society.

But existing research efforts are scattered and fragmented. Traditional funding mechanisms based on natural market conditions and public funding instruments are not adapted to the reality of rare disease research.  Lack of coordination and small patient populations exacerbate the problem of scarce resources and sparse of knowledge on rare diseases. Piecemeal approaches in all of these areas have led to waste and duplication.

Rare disease policies thus require a global approach in addition to the national one, for example, through international research platforms for both fundamental and translational research. This would facilitate sharing derived knowledge and developments in screening methods and standards of care and diagnosis.

There is also a dearth of reliable and comparable rare disease statistics. Health authorities should join national and international efforts to improve the visibility of rare diseases in medical information systems in order to fill this appalling void. In this sense the inclusion of rare diseases in the revised version of the International Statistical Classification of Diseases and Related Health Problems (ICD-11) will significantly help decide policy and monitor spending.  It will also provide instrumental data for clinical and health care research.

At the national level appropriate public health policies can be developed in the areas of scientific and biomedical research, industry policy, drug R&D, information and training, social care and benefits, hospitalisation, and outpatient treatment.

Creating national centres of expertise on rare diseases will help ensure progress on all of these fronts, as well as ensure timely and accurate diagnoses, and high-quality, accessible medical and social services. Although it would be impossible to create a centre for each disease in all countries, centres could be linked together into networks in order to pool scarce and scattered knowledge and resources at the national and international levels. It should be pointed out that this centralisation of expertise does not necessarily entail increased spending but rather the reorganisation of existing services and flows of information.

Last year, the EU adopted a Council Recommendation on a European Action in the field of Rare Diseases which calls upon all EU countries to implement national plans for rare diseases before the end of 2013. These plans are expected to promote coordinated actions and programmes in all relevant areas of rare disease policy: newborn screening and gene testing, research and drug development, registries and clinical trials, standards of diagnosis and care; patient mobility, social services and patient empowerment.

France, Spain, Portugal, Romania and Bulgaria have already adopted national plans on rare disease. Before, other EU Member States had already developed specific public policies on rare diseases in Denmark, Italy, Sweden and the UK. The idea of national plans is well advanced in Canada and Australia and is making its way in countries like Japan, Korea and New Zealand.

These are all encouraging first steps in the political arena.  Now budgets have to follow. It is time for public authorities to consider rare diseases as a national as well as international public health priority and take concrete action to support patients and the families affected by them. Ignoring this class of disease will result in far greater costs, both to economies and patients, than adapting healthcare systems and social services to address their specific needs.

For more information:

European Organisation for Rare Diseases (EURORDIS) www.eurordis.org

National Organization for Rare Disorders (NORD) www.rarediseases.org

Orphanet database of information on rare diseases and orphan drugs www.orpha.net

©OECD Observer No 281, October 2010

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