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Individuals with rare disease face unique clinical circumstances that put them at increased risk for poor health outcomes and adverse events. For example, there is limited evidence on how best to deliver care for some rare diseases and specialized providers may only be available at major academic medical centers, which represents a significant barrier to accessing appropriate care. If a provider is less familiar with the patient’s rare condition, care decisions for other health needs may not consider the impact on the disease’s exacerbation or progression. These factors create unique challenges for achieving optimal quality: care that is safe, effective, efficient, equitable, timely, and patient-centered.

To determine whether and to what degree the core commonalities of rare disease care needs are addressed by existing quality improvement efforts and to identify opportunities to enhance rare disease care quality, Avalere conducted a landscape analysis of the existing quality measures, value-based care programs, and quality improvement initiatives. The targeted search aimed to identify major features of the quality landscape specific to rare diseases such as quality measures, improvement programs, and evidence-based care guidelines. Avalere used multiple tools, including the Avalere Quality Measure Navigator®, UpToDate®, and publicly available resources.

Avalere identified 34 active quality measures, 17 quality improvement programs, and 26 evidence-based care guidelines focused on rare diseases. The Up-to-Date database alone has more than 850 disease-specific care guidelines. The few existing quality improvement programs and patient registries for rare disease were spearheaded by patient advocacy groups, with the predominant focus on expediting time to diagnosis for individuals with rare diseases. Other improvement efforts focused on establishing specialized treatment centers designed to mitigate geographic barriers to treatment. Quality measures developed for rare diseases are not widely used or found in high-profile quality payment programs, and many measures have been discontinued or were never integrated into the Centers for Medicare and Medicaid Services’ reporting programs.

There is a clear opportunity for stakeholders to consider rare diseases collectively rather than individually. There are more than 7,000 rare diseases that together affect an estimated 25–30 million Americans, a population size rivaling those of the most common chronic conditions. Developing quality improvement initiatives, building rare disease common care guidelines, or implementing quality measures are strategies relevant for multiple stakeholders, and could have significant impact in improving care for these patients.

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