Bridging Genomic Insight and Clinical Care in Chromosome 8p Disorders Through a Registry-Driven Passport

BackgroundRare diseases are frequently associated with prolonged diagnostic odysseys and fragmented care, requiring coordination across multiple specialties and often leaving families to bridge gaps in medical knowledge among providers. Chromosome 8p disorders, caused by diverse structural rearrangements, exemplify these challenges, as clinical manifestations and management needs vary widely across genetic subgroups. Although natural history studies (NHSs) systematically collect longitudinal and genotype-phenotype data, these insights are seldom translated into practical, patient-centered tools that directly inform day-to-day clinical care. ResultsWe developed the 8p Patient Passport, an automated tool that generates individualized clinical and genomic summaries and anchors each finding within subgroup-specific reference data derived from the Project 8p NHS. Each passport integrates detailed genomic information, including precise 8p rearrangement coordinates, together with developmental, behavioral, and comorbidity data, and presents these findings in the context of the individuals representative genetic subgroup. The automated R/LaTeX pipeline produces personalized, plain-language summaries for families and providers within one minute per case. Forty-two passports were generated across three molecular subgroups and distributed to the families that participated in the NHS: inverted duplication/deletion (n = 30), interstitial deletion (n = 10), and duplication (n = 2). In a post-deployment survey, caregivers rated the Passport highly for clarity (mean 4.8/5), accessibility (4.8/5), and usefulness (4.2/5), emphasizing its value for communicating with healthcare and educational teams and for understanding their childs presentation in relation to peers. ConclusionsThe 8p Patient Passport bridges rare-disease research and clinical care by transforming NHS data into individualized, context-aware care tools. By pairing patient-level data with subgroup-specific reference distributions, it supports personalized interpretation, facilitates care coordination, and empowers families as active participants in medical decision-making. This framework lays the groundwork for scalable, interoperable applications across rare-disease communities, aligning with global efforts to advance patient-centered precision medicine.