Study highlights the multibillion dollar burden of rare disease

Annie Kennedy, chief of policy, advocacy, and patient engagement at the EveryLife Foundation for Rare Diseases, tells us why the Foundation sponsored The National Economic Burden of Rare Disease Study, undertaking the challenge of examining the financial impacts of rare diseases.

In 2018, the Foundation and its partners elected to perform The National Economic Burden of Rare Disease Study when it recognised that little data existed on who was living with rare diseases and what cost barriers were present for those individuals and their caregivers.

"[EveryLife Foundation] is a coalition of patient advocacy organisations, with pharmaceutical partners and other stakeholders, concerned about efforts informed by policy and evidence. Our primary focus is ensuring we can work to eliminate barriers and identify challenges to therapeutic development for rare diseases," Kennedy states.

Before the study, the Foundation had a large amount of anecdotal evidence or estimates regarding the financial burden of rare diseases, but its members understood the value of gathering real-world data to drive conversations and change in policy, adequate research funding, and reimbursement.

Therefore, the study aimed to garner objective evidence of the economic burden of rare diseases by working with the broader rare disease community.

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.

"When we think about direct costs, we're talking about hospital stays, ER admissions, the diagnostic odyssey and durable medical equipment," Kennedy says.

"Regarding indirect costs, it was really important for us to try and measure what we think of as productivity losses."

For example, if an individual with a rare disease has to leave the workplace or can no longer work full-time, there are costs associated with loss of productivity.

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, also known as presenteeism, the Foundation wanted to quantify that as well.

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 states.

The Foundation gathered an enormous amount of data to provide a thorough picture of what it's like to have a rare disease and the economic challenges the community faces.

Intricacies and results

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 reviewed data sets on direct costs within Medicare, Medicaid, and commercial data, using 2019 Medicare Standard Analytical File, 2016 Transformed Medicaid Statistical Information System, and 2018 Optum de-identified Normative Health Information System.

"It was a very comprehensive look at direct cost data. To do that, you have to be able to look at the data codes, such as the International Classification of Disease (ICD) codes," Kennedy states.

"It's estimated there are anywhere from 7,000 to 10,000 rare diseases, but there are only ICD codes for about 500 rare diseases."

Researchers could obtain data on 379 rare diseases based on their ability to look at data.

"If there is no ICD code for one's rare disease," Kennedy states, "the patient is pretty much invisible in the system and, therefore, their costs are unavailable."

Regarding non-medical and indirect costs, the Foundation worked directly with the rare disease community.

It 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.

"We had over 1,400 people who completed that survey from start to finish, and we had clean enough data that we could use it. It was a robust survey response and representative of the 379 communities that we could correlate to direct care costs," Kennedy says.

The Foundation estimates that 15.5 million Americans are represented in the study.

The total economic burden of 379 rare diseases in 2019 was estimated to be $966 billion (£809 billion), including direct medical costs of $418 billion (£350 billion) and indirect or non-medical costs at an additional $548 billion (£459 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 states 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.

As part of the annual appropriations bill (legislation in the US that allocates federal funds to specific agencies, departments and programmes), the Foundation asked the Government Accountability Office (GAO) to perform a national rare disease study looking at the economic impact of rare diseases.

The GAO conducted that study, which was more of a literature review. Their results validated and substantiated a significant need for increased resources and funding for rare diseases.

The Foundation also learned that the NIH's National Center for Advancing Translational Sciences (NCATS) was performing a burden of rare disease study, looking at only direct cost data. The NCATS study results lined up nicely with the Foundation's analysis.

"There were a number of studies happening simultaneously that validated one another," Kennedy states.

"We pulled together with the authors of these other studies and made policy recommendations aimed at policymakers to show them some potential solutions."

The Foundation has also highlighted the need to better track who is living with rare diseases by increasing the number of diagnoses for which there are assigned ICD codes or classification codes.

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 states.

To read The National Economic Burden of Rare Disease Study, click here.

About the interviewee

Annie Kennedy is chief of policy, advocacy, and patient engagement at EveryLife Foundation. A veteran leader in the rare disease patient advocacy movement, Annie joined the EveryLife Foundation in 2018, where she led the National Economic Burden of Rare Disease study, the development of the ICD Code Roadmap, and the community-driven Guide to Patient Involvement in Rare Disease Therapy Development. Annie previously held leadership roles at Parent Project Muscular Dystrophy (PPMD) and the Muscular Dystrophy Association (MDA). She is a sought-after advisor to patient-centred organisations and initiatives across the nonprofit and government sectors.

About the author

Jessica Hagen is a freelance life sciences and health writer and project manager who has worked with medical XR companies, fiction/nonfiction authors, nonprofit and for-profit organisations and government entities.