Informatics Research Seminar: Finding Patients with Alpha-1 Antitrypsin Deficiency: A Case of Rare Disease Identification Using Administrative Claims Data

February 10 @ 4:00 – 5:00 pm


Speaker: Christopher Blanchette, PhD, MBA
Presented from UNC-C

Broadcast Link: Seminar



Alpha-1 antitrypsin deficiency (AATD) is a rare, under-diagnosed disease that may predispose an individual to chronic obstructive pulmonary disease (COPD) early in life. Affected individuals often undergo long delays between symptomatology and diagnosis, and are commonly treated like standard COPD patients before receiving proper treatment. Recognizing the differences between these conditions may speed identification of AATD patients and prevent misdiagnosis. This presentation will present a case example of the development of an algorithm to identify patients with a rare disease and the process used to develop a data-derived screening process to define differences between individuals with AATD and non-AATD associated COPD.


Speaker Bio

Christopher M. Blanchette, Ph.D., M.B.A. is an epidemiologist and health services researcher with expertise in health economics and outcomes research, health data analytics and pharmaceutical use. He is currently the Director of the Data Science Initiative and an Associate Professor of Public Health Sciences with the College of Health & Human Services at the University of North Carolina at Charlotte. He is also Vice President, Health Economics and Evidence Strategy with Precision for Value (a Precision for Medicine company) and holds adjunct positions at the W.G. (Bill) Heffner VA Medical Center, Salisbury, NC as well as with the Department of Pharmaceutical Marketing at the Saint Joseph’s University Erivan Haub School of Business and the Division of Pharmaceutical Outcomes & Policy at the University of North Carolina at Chapel Hill Eshelman School of Pharmacy. He has over a decade of experience in leading and managing epidemiology, clinical and health services research programs, teams and departments in the pharmaceutical industry and in management consulting. Dr. Blanchette is the Editor-in-Chief of Drugs in Context, and a member of the editorial board for the Journal of Medical Economics and Current Medical Research and Opinion. He has authorized over 60 papers in clinical and economic journals and presented over 100 studies at national conferences. He serves in leadership positions for International Society for Pharmacoeconomics and Outcomes Research (ISPOR) and is a peer reviewer for the Agency for Healthcare Research and Quality’s (AHRQ) Health Information Technology Research study section and the Patient-Centered Outcomes Research Institute (PCORI).