Data on a Mission: Removing Barriers to Understanding of Rare Disease

Research and drug development for rare and genetic diseases is challenging without insight into history and clinical manifestations. Missing efficacy endpoints and underrepresentation in medical coding systems further hinder our understanding of rare disease.

Real-world data (RWD) closes this data divide for researchers because it’s data gathered in real-world settings, not in controlled settings progression like clinical trials. Medical claims and electronic health record (EHR) data forms the foundation of RWD, resulting in a robust, longitudinal view of a patient’s health journey. Not only can this view power discovery of rare disease interventions, but it can be used by stakeholders throughout the health care system.

This white paper, using real-world data to close the rare disease data gap, provides examples of how Optum applied RWD to bolster insights into certain diseases. Download the whitepaper here.