CAHMR Working Paper Series

Abstract: Public awareness for rare diseases has increased in recent years in Hong Kong as patients suffer from long diagnosis process, misdiagnosis and limited financial subsidy for expensive medications. These challenges negatively affect patients’ and caregivers’ quality of life as they continuously suffer from a prolonged period of clinical investigations by different specialists before a diagnosis can be made. The costly and time-consuming process, as well as the lack of experienced clinical genetics professionals are major challenges of rare disease management in Hong Kong. The Hong Kong government adopts an approach of “case by case” instead of formulating a definition of rare disease. New regulations have been performed by the Hospital Authority such as increasing funding for Hong Kong Children’s Hospital for early detection and diagnosis, and review on drug formulary. International collaborations like research and sharing of information is believed to bring optimal benefits for rare disease patients and caregivers, as well as to promote best practices in policy field.