CSRI-Ra

CSRI-Ra measures and standardizes socio-economic costs associated with rare genetic diseases to support cost-of-illness studies and economic evaluations.

Key Features:

• Development Process: Developed through expert panel discussions and focus group meetings with 17 participants including rare disease patients, carers, and healthcare professionals from Hong Kong.
• Translation and Validation: Forward and backward translations were performed by bilingual researchers with face validity and semantic equivalence assessed via interviews and telephone communications with focus group participants and feedback from an additional 13 healthcare professionals and university students.
• Criterion Validity: Criterion validity was assessed by intra-class correlation coefficient (ICC) between CSRI-Ra data and electronic patient records in a sample of 94 rare disease patients and carers, yielding ICC = 0.69 (95% CI 0.56–0.78).
• Standardization and Adaptability: Provides a standardized yet adaptable approach for collecting socio-economic data on rare genetic diseases to enable local relevance and international comparability.

Scientific Applications:

• Cost-of-illness studies: Enables standardized measurement of socio-economic costs in rare genetic disease populations.
• Economic evaluations: Provides empirical cost data to inform health economic assessments and resource-allocation analyses.
• Healthcare planning and monitoring: Supports near-term and long-term monitoring of resource implications to inform healthcare decision-making.
• International comparative research: Adaptability to other populations facilitates cross-population and international studies of the economic impact of rare genetic diseases.

Methodology:

Development via expert panel discussions and focus group meetings (17 participants, Hong Kong); forward and backward translations by bilingual researchers; face validity and semantic equivalence assessed through interviews and telephone communications with focus group participants plus feedback from 13 additional healthcare professionals and university students; criterion validity assessed using intra-class correlation coefficient between CSRI-Ra data and electronic patient records in 94 rare disease patients and carers (ICC = 0.69, 95% CI 0.56–0.78).