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Rare Diseases in the United States: Establishing prevalence, the insurance experience, and orphan drug expenditures in Medicare Part D

In the United States, there are an estimated 30 million people living with one or more rare diseases. Each rare disease impacts fewer than 200,000 people. Small patient populations create research and medical challenges. Patients and the healthcare system experience high costs. To adequately address patient needs and prepare our healthcare system, it is critical that we conduct research that contextualizes the U.S. rare disease experience. This dissertation includes three related studies that look at the U.S. rare disease experience. The first paper investigates the availability and data quality of rare disease prevalence estimates and the healthcare infrastructure that could be utilized to establish future estimates. The paper found that prevalence estimates rarely follow best practices in data quality. U.S. healthcare infrastructure is ill-equipped to track rare diseases and produce future prevalence estimates. This could impact our ability to realize and equitably administer healthcare innovations, including precision medicine. The second paper looked at the caregiver experience navigating health insurance using a grounded theory qualitative approach. The paper found that rare disease caregivers feel it is imperative to learn how to navigate insurance, especially since health setbacks are costly and disruptive. Insurance companies are rarely knowledgeable about the disease and interactions are time intensive. Parents are required to meticulously track benefits to balance long-term medical needs and financial stability. The third paper investigated orphan drug expenditures in Medicare Part D from 2013 to 2017. The study found that orphan only drugs represent 8.67% and partial orphan drugs represent 6.74% of total aggregate costs. In 2017, the average cost per beneficiary for orphan drugs was $92,753 and $3,920 for common drugs. Almost half of orphan drug costs are attributed to beneficiaries under age 65. Together, these studies point to the need to invest in our healthcare system and explore programs that can address issues of access for patients. Currently, our system is not equipped to address patient needs and current funding increases are not sustainable. Policy considerations, such as a rare disease national plan, could help ensure rare disease patient needs are addressed in a methodical