Session (CTI)

Rare diseases pose significant challenges to patients who are affected, to the providers who manage them, to the payers who reimburse treatments, to the investigators who study them, and to the healthcare system in general. In US, ~7,000 rare diseases exist affecting 25-30 million, altogether 9-12% of US population. Simultaneously, investment in research on targeted subgroups of prevalent diseases may also impose similar challenges when attempting to identify and evaluate these patients. While this approach poses several challenges, a primary issue/challenge to investigators is assembling cohorts of patients with rare/targeted diseases for an observational study to generate real-world evidence (RWE). This session will discuss the issues in RWE generation in rare diseases and present potential solutions by utilizing different databases and methodologies. Overview of rare/targeted diseases and the challenges in RWE generation will be provided by the moderator (5 min). The panel will discuss the use of different multi-modal real-world databases including claims (closed and open claims), chargemaster database, Electronic Health Records (EHR), providers’ notes, medical charts, clinicogenomics and disease registries for patient selection and assembling cohorts of patients with rare diseases (15 min). Additionally, the panel will discuss different quantitative (including AI/ML) and qualitative (including grounded theory) methodologies and the importance of feasibilities studies in rare/targeted diseases (15 min). Moreover, the panel will discuss linkages of different databases, and tokenization of patients in generating RWE for rare/targeted diseases (15 min). Where necessary, the panelists will present examples from their current work. To conclude, the panel will recommend best practices for utilizing multi-modal databases and innovative methodologies in designing observational studies to generate critical insights into real-world clinical practice/management of patients with rare/targeted disease subgroups.