Orphanet is a self‐described “portal for rare diseases and orphan drugs”, with the stated purposes of improving the quality of medical care for rare diseases and providing adapted services for the rare disease community. Published by INSERM, a French health agency, Orphanet began as a French effort in 1997 and became a European project in 2000. The web site lists over 5,000 rare diseases in its Orphanet Encyclopaedia, and provides searchable access to over 750 drugs and diagnostic or therapeutic substances in its database. It also collects organization, clinic and medical specialist information from 38 European countries. The site can be read in French, English, German, Italian or Spanish, and receives around 50,000 hits per month.
The crown jewel of Orphanet is its information on rare diseases. Rare disease information is divided into two encyclopaedias – one for professionals and one for patients. The encyclopaedia for professionals is available in English or French and includes review articles, practical genetics articles, emergency guidelines and good practice guidelines. Review articles comprise the most numerous formats. They are written by medical professionals, peer‐reviewed, and well referenced, with clear dates of publication and update. The disease profiles are also published in the open access Orphanet Journal of Rare Diseases to provide publication credit for their authors. The encyclopaedia for patients includes brief information sheets, all in French and much fewer in number than the articles in the encyclopaedia for professionals. Both encyclopaedias can be entered using a browse list of disease names, and the encyclopaedia for professionals is also searchable by disease name.
The database of orphan drugs is searchable by medical product or disease name. The list of Orphan Drugs in the Orphanet database includes all the medicinal products which have received an orphan designation, whether or not they became market approved drugs, as well as drugs without an orphan designation as long as they have a marketing authorization and a specific indication for a rare disease. Both the encyclopaedia of rare diseases and the database of orphan drugs include extensive introductory material that address the problems of rare diseases and orphan drugs and discuss current European policy regarding them.
The searchable list of clinics includes medical management clinics and genetic counselling clinics. It can be searched by disease or country, and provides information on the focus on adult or paediatric treatment of specified diseases, contact numbers and web site URL. Laboratories that perform particular diagnostic tests can be found in the diagnostic test section, where they can be searched by disease name or gene name/symbol, and by country. Clinicians must apply to have their clinics listed, and applications are reviewed by members of the Orphanet advisory board.
The Research and Trials database can be used to search disease name or gene/symbol for ongoing trials of drugs and therapies. Researchers must apply to have their grant‐supported research listed. The site also includes searchable lists of patient organizations, and healthcare professionals and institutions.
The Orphanet web site is generally well organized and highly searchable and navigable. The home page is however, absolutely crammed with lists of countries, resources, data and services. Once that has been negotiated, the pages are much less cluttered and confusing. Pages and individual elements are clearly labelled as to language. The encyclopaedias and databases can be searched or linked to from the Orphanet home page, as well as from dedicated internal pages. Instructions for searching each of the various databases or resources is straightforward and clear and is found on that resource's home page. While the extraction of large amounts of data for re‐use or analysis is prohibited, the Education and Media section offers the possibility of obtaining data with permission.
Strict quality standards are defined on the web site. For example, the database of rare diseases is supervised by a scientific committee and editorial board, which validates any information before it is disseminated. The web site states that it adheres to the standards set for online health information by the Health on the Net (HON) code, eHealth Code of Ethics, the American Medical Association and the French National Board of Physicians. Orphanet receives some funding assistance through sponsorships and partnerships and describes itself as a non‐profit organization with limited resources.
Orphanet is an impressive resource, probably most useful to medical professionals or knowledgeable lay people. There is less information developed specifically for patients and families who are just entering the medical system or who are less medically sophisticated. Orphanet is comparable to the US‐based National Organization for Rare Disorders (NORD), which also provides an index of rare diseases and their patient organizations. NORD's web site (www.rarediseases.org/) does not include information about orphan drugs, and some of their services, such as comprehensive disease reports, are available only for pay or by institutional subscription. NORD's web site is more attractively organized and frequently updated, and NORD is itself a private charity rather than a non‐profit governmental organization. While their missions and focus differ, both offer useful information to clinicians and patients investigating a rare disorder or disease.
