The RARE Foundation submitted a response to the Centers for Disease Control and Prevention (CDC) in response to the agency’s Request for Information (RFI) on developing new principles for assigning ICD‑10‑CM codes to genetic and ultra‑rare conditions. The Foundation urged the CDC to modernize and streamline the process for creating rare disease ICD codes, noting that the current system cannot keep pace with advances in genomic medicine and precision diagnostics.
Drawing on feedback from more than 150 rare disease advocacy leaders and experts, the Foundation stressed that fewer than 10% of known rare diseases have a corresponding ICD‑10‑CM code — a gap that affects diagnosis, research, reimbursement, and public health surveillance. As the document notes, “physicians are left to choose from existing codes for other conditions,” a workaround that obscures true prevalence and complicates access to care. The comments highlight how missing or overly broad codes can delay diagnosis, hinder clinical trial recruitment, limit insurance coverage, and weaken real‑world evidence generation — all at a time when scientific innovation is rapidly advancing.
In its comments, the Foundation endorsed a proposal submitted to the CDC by the MONDO team, which recommends a more systematic, scalable approach to coding genetic diseases. It also expressed support for incorporating elements of other stakeholder proposals, emphasizing that further engagement is needed to resolve several key issues related to the process and structure for new codes. The Foundation called for meaningful involvement of patient advocacy organizations and disease experts throughout the evaluation process and urged CDC to move quickly to establish new organizing principles while resuming broader discussions around the adoption of ICD-11. Without specific ICD codes, more patients remain invisible in health systems and data sources, and more barriers persist in accessing care and advancing research.
