Using electronic medical record data to shorten diagnostic odysseys for rare genetic disorders in children and adults in two New York City health care settings

Project Narrative This project seeks to shorten the diagnostic odysseys for rare genetic diseases, which can last for years, by using electronic health record-based identification of patients likely to have such disorders. In the first phase of the project, we will test out our existing algorithms for infants and children with a pilot study and also attempt to improve those algorithms. During the second phase of the project, we will develop algorithms for similar purposes but for adolescent and adult patients as well as deploy our algorithms in a different, non-academic health care setting.