Identifying rare diseases

ORPHANET portal

Orphanet is the most important database in the EU for rare diseases and orphan drugs for the general public.  It contains information about 6 000 diseases and is freely accessible.

Orphanet portal aims to offer health-care professionals, scientists, health authorities, patients and their relatives, the media and the community at large reliable, up-to-date, relevant information on rare diseases and orphan drugs.

The portal includes a rare diseases encyclopedia, written by experts and peer-reviewed, and a directory of services. This directory includes information about specialised outpatient clinics, diagnostic laboratories and support groups in Europe. It is accessible in English, French, German, Italian and Spanish.

The portal contains information on disease names, prevalence rates in the Community, synonyms, general descriptions of the disorders, symptoms, causes, epidemiological data, preventive measures, standard treatments (e.g. orphan drugs), clinical trials, diagnostic laboratories, specialised consultations, research projects and other web resources.

The directory of services is maintained by the central team, but data collection and validation is carried out at Member State level, by local teams, all using the same methodology and agreed quality charter. All the collected data are validated by a scientific advisory board at national level prior to publication on the website. The scientific board comprises leading physicians in the relevant area of medicine, nominated by the board of directors.

Orphanet is managed by a board of directors representing all the countries associated with Orphanet and meets once a year. The board decides on the evolution of the database, the quality charter, the dissemination plan and the funding.

Orphanet was established in 1997 by the French Ministry of Health (Direction Générale de la Santé) and the INSERM (Institut National de la Santé et de la Recherche Médicale). Both are still funding the core project. The Commission is funding the encyclopedia and the collection of data in European countries (2000-2004 from the Public Health Programme and since 2004 from the Framework Research Programme).

Orphanet  portal
Orphanet 4 (Phase 4)

Rare Diseases Portal

Coordinated by the Institut National de la Santé et de la Recherche Médicale (FR).

This project is an evolution of the existing Orphanet website towards a new rare diseases portal. This site is designed to help improve the diagnosis, care and treatment of patients with such diseases, by providing the community at large with comprehensive, user friendly information on rare diseases in 6 languages. Features includes:

  1. Comprehensive encyclopaedia of rare diseases
  2. Directory of professional services in 35 countries
  3. Directory of European centres of reference
  4. Database of orphan drugs providing information on their stage of development and availability in EU countries
  5. List of Expert Clinics
  6. List of Expert Laboratories
  7. Lists of research projects and clinical trials
  8. List of registries & biobanks

A Joint Action "Orphanet Europe" has been selected for funding in 2010 under the EU Health Programme. The French INSERM will lead the Joint Action for the next three years. The expected outcome is a common European RD portal, providing European citizens with the information they need as described in the Communication “Rare Diseases: Europe’s challenge” and in the Recommendation of the Council. The Orphanet dataset will be available for re-use in different formats to ensure dissemination of the Orphanet nomenclature of RD and maximise the use of collected information on expert services. Customised websites at national level in national language(s) will be available in order to disseminate national data at MS level. Orphanet will have the governance needed to ensure its mission at international level.

RareDiseasePlatform (RDPlatform)

The European rare diseases and orphan drugs database, Orphanet set up the OrphanXchange project to highlight opportunities and facilitate collaboration between academia and industry. OrphanXchange was funded by the EU's Sixth Framework Programme (FP6) . With support from OrphanPlatform, another project under the FP6, this service is a tool to boost the development of diagnostics and therapeutic products.

Continuing from the OrphanPlatform, RareDiseasePlatform (RDPlatform) is a three-year project of the Seventh Framework Programme bringing together organisations from 13 European countries which began in May 2008.Its goal is to create tools for European researchers working in the field of rare diseases, intended to facilitate collaboration between academic teams, SMEs and major companies, and to facilitate access to technological expertise and key research resources.

These tools will help the experts, researchers and companies to find each other and to work together to provide diagnostic tools and medical products as quickly as possible.

Other databases on rare diseases

The US Office of Rare Diseases (ORD) was established in 1993 within the Office of the Director of the National Institutes of Health (NIH). ). ORD's goals are to stimulate and coordinate research on rare diseases and to support research to respond to the needs of patients. Links to definitions, causes, treatments, and publications about rare diseases are available.

See also: the US Rare Diseases Act of 2002

The Swedish National Board of Health and Welfare is  developing a database on rare diseases. Rare diseases are defined as: “diseases or disorders which affect fewer than 100 people per million, and which lead to a marked degree of disability"". The aim of the database is to provide up-to-date information on rare diseases and about the support and services required by those affected. To date, close to 300 rare diseases have been described.

The database Rarelink aims at establishing contact between persons with rare diagnoses, who are not supported by a patient organization in Denmark, Finland, Norway and Sweden.

Diagnosing Rare Diseases

Rare diseases (RD) are still poorly known both by the general public and by most health professionals. Obtaining an accurate diagnosis is critical for all patients with a rare disorder, but diagnosing these diseases may be difficult.

Some rare diseases are compatible with normal life if diagnosed on time and properly managed. However, the lack of specific health policies for RD and the scarcity of the expertise translate into delayed diagnosis and difficult access to care. This results in additional physical, psychological and intellectual impairments, sometimes birth of affected siblings, inadequate or even harmful treatments and loss of confidence in the health care system. Patients feel isolated when physicians are unable to diagnose their illness correctly or promptly. Physicians, in turn, are often perplexed by the multitude of vague and contradictory symptoms and uncertainty about the characteristics of some diseases.

The national healthcare services for diagnosis, treatment and rehabilitation of people with RD differ significantly with respect to their availability and quality. Citizens from EU countries and/or regions within the countries have unequal access to expert services and to orphan drugs. A few countries have successfully addressed issues raised by the rarity of the diseases, while others have not yet considered possible solutions. Establishing diagnostic criteria to aid clinicians is essential for early recognition and differentiation of many of the rare disorders. This information will assist clinicians in evaluating and managing affected individuals. After obtaining a diagnosis, many patients research on their own information about their disease.

In the EU RAPSODY (Rare Disease Patient Solidarity) project, a Survey of the delay in diagnosis for 8 rare diseases in Europepdf was conducted by Eurordis (European Organisation for Rare Diseases) in collaboration with 67 European rare disease organisations.

The main findings were that 25% of patients had to wait between 5 and 30 years from early symptoms to confirmatory diagnosis of their disease. Before receiving a confirmatory diagnosis, 40% of surveyed patients first received an erroneous diagnosis. 25% of patients had to travel to a different region to obtain the confirmatory diagnosis, and 2% had to travel to a different country. The diagnosis was announced in unsatisfactory terms or conditions in 33% of cases, and in unacceptable ones in 12.5% of cases. The genetic nature of the disease was not communicated to the patient or family in 25% of cases.

Similar results have been reported by the US National Commission on Orphan Diseases: about 50% of the patients reported receiving a diagnosis within a year of their first visit to a doctor. Nearly 30% of patients in the survey reported that as many as five years passed before their disease could be identified; and 15% reported that they were not diagnosed for six or more years.