Impact of rare disease from a health, social, and economic perspective

Abstract

Rare disease (RD) refers to a disease that affects less than one in 2000 individuals in a population. There is significant health, social, and economic burden for patients with RDs, and consequently, for family members, health system, and the society as a whole. However, little is known about the implications of RDs, in particular, there is lack of empirical evidence in relation to its socio-economic impact on individuals and society.

This thesis aimed to assess the economic benefits of providing rapid whole-exome sequencing (rWES) for patients urging for a rapid genetic diagnosis, develop a resource-use measurement tool for the collection of cost-related data beyond the health system perspective, conduct a cost-of-illness study to evaluate the socio-economic burden of RDs, investigate the RD-related out-of-pocket (OOP) health expenditure and related financial hardships, and evaluate the health-related quality of life (HRQoL) of RD patients and their carers in Hong Kong (HK).

First, the provision of rWES in acute clinical setting demonstrated promising diagnostic capacity and diagnosis-predicated medicine for 102 Chinese families in HK, and illustrated net healthcare savings of HKD$5,325,187 from changes in clinical management. rWES merits consideration as first-tier diagnostic tool in clinical setting for patients with urgent needs in HK.

Second, through multiple focus group meetings and in-depth interviews, the Client Service Receipt Inventory for the RD population (CSRI-Ra) was developed, contextualised, translated, and validated. There was moderate to good agreement between the CSRI-Ra and electronic patient record. The CSRI-Ra has value to be the standardised tool for the collection of cost-related data beyond the public health system perspective.

Third, using the CSRI-Ra, the cost of RDs was estimated to be HK$484,256 (standard deviation (SD) HK$730,736) per patient per year, higher than that of other common disorders in HK. Hidden costs in the form of informal care support and productivity loss were higher than the direct healthcare costs for the population. With one in 67 people living with one or more RDs in HK, the territory-wide socio-economic burden was projected to be HK$56.03 billion in 2020.

Fourth, RD families’ financial burden is severe, with 21.8% to 41.5% of the cohort experiencing catastrophically high OOP health expenditure, significantly higher than the 2015 global estimate of 12.7%, indicating high risk of experiencing financial hardship due to RD-related OOP healthcare payment.

Finally, patients with RDs reported a mean utility score of 0.52 (SD 0.36), significantly lower than that of the HK general population and patients with other chronic diseases, including hypertension, heart disease, diabetes and cancer (p<0.0001); 10.4% of the RD patients reported negative utility scores indicating worse-than-death health states. Importantly, carers of RD patients had a mean utility score of 0.80 (SD 0.16), lower than that of patients with other chronic illnesses in HK.

RDs have a broad and long-term health-related and socio-economic impact on individuals, families, health system, and the society. The series of work demonstrate and expose the fundamental and long-standing difficulties and needs of the RD population, and reflect the importance of RDs in health policies.