Rare Disease Health Policy in the US

Individuals living with RareDiseases in the United States face many difficulties in obtaining quality,affordable, and coordinated care. Barriers to healthcare exist for most UScitizens due to fragmentation between federal, state, and private healthsectors. Yet rare disease patients experience compounding difficulties such asdiagnostic delays, complex navigation of the health system due tomultidisciplinary management, and difficulty obtaining insurance reimbursement for needed medications and treatment.

In the United States, a RareDisease is defined as one that occurs in less than 200,000 people. The totalindividuals living with Rare Diseases account for approximately 9% of thepopulation. The total economic impact of rare diseases was estimated in arecent study published by the EveryLife Foundation for RareDiseases at $966 billion for 2019, alone.

Although this study was thefirst to evaluate total economic burden, strides to improve Rare Disease carein the US have been underway for decades. Most notably, the passing of theOrphan Drug Act of 1983, which financially incentivizes pharmaceuticalcompanies to develop medicines for the treatment of rare diseases. Federalfunds have also been allocated to the development of the Genetic and RareDiseases Information Center (GARD), which acts as an information hub forhealthcare professionals, researchers, and individuals and families living withRare Diseases. Non-governmental umbrella and disease-specific patient advocacyorganizations also provide patient and caregiver information, and coordinateresearch and advocacy efforts. However, no national initiative exists toprovide individualized, expert rare disease health education, psychosocialcare, and care coordination to individuals and families across care settings.

Movement Toward CareCoordination in Primary Care

The federal government hasrecognized care coordination services as integral to improving health outcomes,increasing patient satisfaction, and decreasing healthcare expenditures.Financial incentives for the provision of these services in primary carepractices, provided through the Chronic Care Management Model (CCM) forMedicare eligible beneficiaries with two or more chronic health conditions,provide patients with a comprehensive care plan, individualized health education,and assistance in navigating the health system. However, not all primary carepractices have implemented CCM and not all patients with chronic conditions areeligible for CCM services. This is largely due to the lack of reimbursement forcare coordination services by state and private pay insurers. Furthermore,these services are provided at the primary care level which is unlikely to haveaccess to rare disease health experts.

Many of the common chronicconditions targeted by the federal program are those with the highest economicburden to the nation. For example, diabetes was estimated by the Centers forDisease Control and Prevention (CDC) to cost the nation $327 billion in 2017.Further, a comparison of financial impacts between common chronic conditionsand Rare Diseases reveals an area for social and health policy development andaction.

The Path Forward

Increasing access toaffordable, quality, coordinated care in the United States requires innovationfrom all health professions. National and state Nurse-led advocacy initiatives,such as for rare disease care coordination service reimbursement across payers,is one way to improve health outcomes for rare disease patients whiledecreasing overall economic impact. Additionally, rare disease-specific nursingcare plans and increasing access to rare disease nurse specialists wouldencourage comprehensive health assessment and care planning for patients acrosscare settings. Lastly, collaborating in global initiatives for rare diseasenursing care, such as those led by the Rare Disease Nurse Network, inestablishment of best practices for rare disease patients, is essential toenacting real, systems-level change for all of those living with Rare Diseases.

References:

https://www.cms.gov/About-CMS/Agency-Information/OMH/Downloads/CCM-Toolkit-Updated-Combined-508.pdf

Pasquini, T.L.S., Goff, S.L. &Whitehill, J.M. Navigating the U.S. health insurance landscape for childrenwith rare diseases: a qualitative study of parents’ experiences. Orphanet J Rare Dis 16, 313 (2021).https://doi.org/10.1186/s13023-021-01943-w

https://www.cdc.gov/policy/polaris/healthtopics/diabetes/index.html

The_National_Economic_Burden_of_Rare_Disease_Study_Summary_Report_February_2021.pdf

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