Panel Discussion: The High Cost of Rare Diseases

Joni Rutter, PhD, Deputy Director at the National Center for Advancing Translational Sciences (NCATS) and Annie Kennedy, Chief of Policy and Advocacy at the EveryLife Foundation discuss their organizations' collective studies showing the direct and indirect costs of rare diseases in the United States.

The four studies related to the financial burden that rare diseases place on the health-care system, as well as the families, are:
• The National Economic Burden of Rare Diseases Study, published in February 2021 and prepared for the EveryLife Foundation by the Lewin Group;
• The IDeaS Initiative: pilot study to assess the impact of rare diseases on patient and healthcare systems, published in October 2021 in Orphanet Journal of Rare Diseases;
• Can you hear us now? The impact of health-care utilization by rare disease patients in the United States, published in June 2021 in Genetics in Medicine; and
• Rare Diseases: Although Limited, Available Evidence Suggests Medical and Other Costs Can Be Substantial, published in October 2021 by the GAO upon the direction of Congress.

Each of these studies demonstrates the extreme economic burden of rare diseases to the country. Direct medical costs range in the 4 studies from $400 - $768 billion, and total costs range $823 - $997 billion. The EveryLife/Lewin Group study additionally indicated $437 billion in indirect costs, as well as $111 billion in non-medical costs. To put this into perspective, the findings of the NCATS study suggest that nationwide medical costs for individuals with rare diseases are on par with those for cancer and heart failure.

Some factors responsible for these costs include:
• Delayed diagnosis/imprecise quantification
• Hospital and inpatient care costs
• Paid personal care
• Modifications to make the home more accessible
• Transportation costs
• Education costs
• Lost earnings
• Drug costs.

Many of these factors impact both patients and caregivers.

The authors of the Health Affairs Forefront article go on to offer recommendations for individuals with rare diseases as well as the community. These recommendations include:
• Establish additional ICD codes for rare diseases
• Enhance collection of rare disease patient data
• Expand patient access to advanced diagnostic tools
• Support registries, natural history studies, and related projects
• Enhance electronic health record structure to facilitate research.