At-risk cancer genetic syndrome identification (ARCAGEN-ID): Novel EHR integrated system to overcome disparities in identification and testing for cancer genetic syndromes

Abstract

Background: Identifying individuals at-risk for a hereditary cancer syndrome (HCS) is crucial to prevent cancer deaths. While there are established guidelines for genetic testing, less than 30% eligible individuals are tested, with consistently worse rates among underserved. The complexity of guidelines and providers’ unconscious bias contribute to these disparities. This project aimed to enhance the identification and testing of at-risk individuals, focusing on underserved populations. Methods: NCCN/ACMG criteria for genetic testing were translated into three distinct rule-based conditional logic statements in the EHR. A total of 218 rules that serially evaluate each aspect of an individual criteria, and together roll up into a logic statement of “at-risk for HCS. The rules evaluate personal and/or family history, determine age at onset, and categorize family relationships. A proof-of-concept automated outreach initiative was developed that allowed patients to opt into genetic testing after an informational video was watched was developed. Relevant data were extracted and compared using chi-square test.