Supporting data for "Impact of rare disease from a health, social, and economic perspective"

In this thesis, I evaluated the impact of rare diseases from a health, social, and economic perspective. This study included patients with rare diseases in Hong Kong, recruited from hospitals from the Hospital Authority, and from patient groups. Patient's family members, and other health and social care professionals were also recruited. For the evaluation of the clinical and economic implication of genomic technologies in the healthcare setting, critically ill patients with suspected monogenic disorder were recruited from the clinical setting, and were offered rapid whole-exome sequencing (rWES). DNA sample collection, library preparation, variant analysis, and data interpretation were performed. Patient's healthcare record (electronic patient record) was also reviewed. There were patient's demographic data, sequencing data and healthcare utilisation data, all of which were strictly confidential. Participants did not provide consent for the data to be shared. In addition, to evaluate the health, social, and economic consequences of rare diseases in Hong Kong, participants were recruited to complete the Client Service Receipt Inventory for the RAre disease population (CSRI-Ra), which is a tool to collect comprehensive socio-economic data in both the healthcare and social care setting. Data are sensitive and included but not limited to data on patient's demographics, HKID, rare diseases, income, social security support, employment, healthcare utilisation record, medication record, resource utilisation, informal carer support, health status, quality of life, etc. Participants were reminded that the data will be kept strictly confidential and will not be shared.