Rare diseases and orphan medicines: knowledge and perceptions of healthcare professionals and the public

Abstract Objectives The aim of this study was to assess the public’s and healthcare professionals’ awareness and perception on rare diseases and orphan drugs, and to identify challenges faced by both populations. Methods Two questionnaires, one for healthcare professionals and one for the public including rare disease patients, were developed, validated and disseminated. The experience and awareness of the public and healthcare professionals with regard to rare diseases and orphan medicines were analysed. Key findings The questionnaires were completed by 228 members of the public and 73 healthcare professionals. Thirty-seven percent of the public knew or were related to someone with a rare disease. Public participants consisted of those who knew or were related to someone with a rare disease (37%) and rare disease patients (12%). Nineteen percent of rare disease patients had encountered problems while trying to obtain an orphan drug. Seventy-three healthcare professionals completed the questionnaire. Fifty-five percent had diagnosed, encountered or examined a rare disease patient at a point in their career, while 32% had dispensed or tried to dispense an orphan drug. Twenty-seven percent of healthcare professionals had encountered various problems while trying to obtain an orphan drug for patients. Conclusions The elucidation of public’s perception on rare diseases can offer better guidelines for healthcare professionals to support rare disease patients better.