ABSTRACT
BACKGROUND: Orphanet is a database of rare diseases which includes a directory of services providing information on professional experts working either in laboratories offering diagnostic tests or in specialized outpatient clinics. The printed directory is sent to these experts, to all relevant hospital departments (public and private), healthcare authorities, and patient support groups. The directory is also available online (www.orpha.net). The aims of this study were (i) to determine how the directory is used to refer patients and send specimens, and (ii) to investigate its impact on patient referral. METHODS: Data were obtained from experts and patient support groups concerned with rare diseases, as well from non-expert health professionals and patients. Emphasis was placed on knowledge of the Orphanet database, use of the directory as a tool for referrals, opinion of users about the quality of the directory, and opinion of the referenced experts about its possible impact on their referrals. Four methods of data collection were used: (i) a postal questionnaire to all referenced experts; (ii) an on-line questionnaire posted for a few hours on the Orphanet Website that had to be completed to access the site; (iii) interviews with 25 of the referenced experts; (iv) interviews with 35 leaders of patient organizations. Data were analysed using the chi2 test and logistic regression. RESULTS: Response rates were good: 74% of laboratory experts (224/304) and 68% of clinicians (459/678) answered the questionnaire. The responders proved to be representative. Among those who responded, 85% of the laboratory experts and 80% of clinician experts used Orphanet. More than two-thirds of them used Orphanet to identify (other) laboratories to them send specimens, and (other) clinicians for patient referral. Some non-expert hospital-based clinicians had nearly the same use. Patient support groups also used the directory. Persons using the directory happened to know Orphanet in their professional environment. Conversely, patients, non-MDs healthcare professionals and professionals in private practice discovered Orphanet using search engines, often when searching information about a rare disease. Of those who had already accessed the directory, most (94%) consider that the quality of the lists was "good" or" rather good". Among the experts, 29% of laboratories and 9% of clinicians considered that Orphanet had an impact on their referrals. CONCLUSION: The Orphanet directory is used to refer patients and specimens, especially by experts and patient organizations. It appears to have more impact on referrals within the healthcare system for laboratories than for specialized outpatient clinics. The impact is strong when expertise in the field is very scarce.
