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The U.S. national economic burden of 379 rare diseases in 2019 was estimated close to one trillion.


European Health Summit 2022

In 2018, EveryLife Foundation for Rare Diseases (U.S.) and its partners decided to conduct a study to assess the national economic burden of rare diseases. The study seemed as a one-way option as little data existed on who was living with rare diseases and what cost barriers were present for those individuals and their caregivers.

The EveryLife Foundation for Rare Diseases is a non-profit organization dedicated to empowering the rare disease patient community to advocate for impactful, science-driven legislation and policy that advances the equitable development of and access to lifesaving diagnoses, treatments and cures.

The study
The Foundation and its partners sought to provide the most comprehensive assessment of the financial burden of rare diseases to date by investigating direct and indirect cost components.

As direct costs, the researchers considered hospital stays, ER admissions, the diagnostic odyssey and durable medical equipment. Indirect costs were regarded as equally important, so the team tried to measure what they thought as productivity losses. For example, if a patient with a rare disease has to leave the workplace or can no longer work full-time, there are costs associated with loss of productivity. Or, if a caregiver has to retire early, not work full-time, or goes to work but spends time managing appointments or fighting for medical benefits, the Foundation wanted to quantify that as well, said Annie Kennedy, chief of policy, advocacy, and patient engagement at the EveryLife Foundation for Rare Diseases.

Researchers also looked at expenses associated with things that were prescribed but not reimbursed, such as compression stockings, vehicle or home modifications, medical foods, dental procedures, and more.

“As rare disease patient communities, our theory was that when we dug into these costs, we would find that a substantial portion of the costs is being absorbed directly by families,” Kennedy stated.

To amass the information for direct and indirect costs, the Foundation and its partners utilised data sets and feedback from the rare disease community. Researchers developed a survey and disseminated it to more than 200 patient advocacy organisation partners, who then shared it with their communities. Participants were asked to complete the survey based on their financial experiences in 2019. Over 1,400 people completed the survey, representing 379 rare diseases and nearly 15.5 million Americans.

The total economic burden of 379 rare diseases in 2019 was estimated to be $966 billion, including direct medical costs of $418 billion and indirect or non-medical costs at an additional $548 billion.

In other words, more than 60% of the total costs were in the non-medical and indirect cost category, meaning only 40% of those costs are associated with direct care costs.

Working to change policy
Kennedy stated stakeholders within the community now have a solid study to refer to when advocating for policy changes because of its detailed findings and because outside organisations have validated the results.

The study has enabled the Foundation to have meaningful conversations with various types of professional groups and allowed stakeholders within the rare disease community to fight to improve the rare disease experience.

“This is data that’s really critical to our communities. The EveryLife Foundation is a broad umbrella group for a reason, and we did this study so that various communities can utilise this data to support their individual communities’ efforts. We’re really pleased to see so many communities doing that,” Kennedy stated.

To read The National Economic Burden of Rare Disease Study, click here, or access the study infographic directly.

This article is a reproduction of the article entitled “Study highlights the multibillion dollar burden of rare disease”, which featured on Pharmaforum on July 11, 2022. Access the article here.
Photo credit: Freepik

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