Definitive Healthcare's 2021 rare disease study surveyed 150 providers across 128 healthcare organizations to identify challenges in diagnosing and treating rare diseases. Key issues include a lack of physician education (40%) and limited awareness of rare disease symptoms (39.3%). Collaboration with specialized facilities (48.7%) and increased physician education (52%) are seen as the most impactful strategies for improving rare disease care. Despite some progress, only one-third of respondents rated their organization's diagnostic capabilities highly, and just over a quarter rated treatment abilities similarly. Advancements in genomic sequencing and data integration are critical for future improvements.

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