Quantifying the Total Burden of a Rare Disease for Patients and Caregivers

Traditional value frameworks typically characterize disease burden in terms of direct medical costs, omitting other burdens such as nonmedical costs and indirect costs both to patients and their caregivers. Because those traditional frameworks tend to underestimate disease burden and its impact on society, a biopharmaceutical manufacturer sought to understand and quantify the total burden of a rare disease on patients, caregivers, and society generally.

We designed and conducted a mixed-methods study to characterize the disease’s total impact and quantify its economic burden in terms of both direct and indirect costs to patients, caregivers, and society. The study included both a retrospective claims analysis of the direct medical costs for more than 3,000 patients and the development of a customized survey administered to both patients and caregivers to capture direct, indirect, and non-medical costs (e.g., quality of life impacts and costs associated with lost productivity).

By modifying a disease-agnostic survey (e.g., by adding more granular questions reflecting the nature of the specific disease under investigation), we worked with the client to produce a novel survey capable of characterizing the full range of disease impacts and validated the survey among a subsample of patients, caregivers, and providers. After administering the survey to 209 patients and 49 caregivers, we applied a proprietary formula to group reported disease burdens into “impact element” categories, enabling us to quantify the average annual cost of the disease for each patient or caregiver, and to determine how patients and caregivers ranked the various impacts in their assessment of total disease burden.

We combined direct medical cost data from our claims analysis with analyses from our survey results to generate an annual estimate of the total economic burden of disease for patients, their caregivers, and society. Because our study design captured a wide range of direct and indirect medical costs as well as nonmedical costs (e.g., transportation needs and home modifications related to the disease), it revealed a higher economic burden of disease than previous studies, including especially high economic burdens for caregivers.

This study provided the client with a better understanding and a quantitative assessment of the burden of a rare disease for patients and their caregivers. The client can now use this information to aid key stakeholders in conducting realistic, comprehensive value assessments for therapies aimed at treating that disease.