Name
06. Transforming Rare Disease Identification Through the EHR
Date & Time
Wednesday, September 16, 2026, 8:35 AM - 9:15 AM
Jacob Sterling Andrew Kim Viet Le Bashar Kadhim
Description

Familial Chylomicronemia Syndrome (FCS) is a rare, underdiagnosed condition often hidden in plain sight within a health system's own data. Patients frequently endure years of unexplained acute pancreatitis and extremely high triglyceride levels greater than 880 mg/dl before an accurate diagnosis. This panel brings together health system informatics and clinical leaders to discuss how EHR tools, such as Our practice advisories and registry queries, are helping close that gap. Panelists will share how they built stakeholder alignment, moved projects from concept to activation, and connected identification workflows to the specialty pharmacy pathway once a patient is flagged. Attendees will leave with a practical framework for assessing their own system's readiness to identify rare disease patients using tools they already have.

Location Name
Salon A-2 (Lower level)
Full Address
Hilton Chicago
720 S Michigan Ave
Chicago, IL 60605
United States
Session Type
Featured Session