Standards-Based Clinical Decision Support Platform to Manage Patients Who Meet Guideline-Based Criteria for Genetic Evaluation of Familial Cancer

Summary

Published Date: January 17, 2020

The ubiquitous adoption of electronic health records (EHRs) with family health history (FHH) data provides opportunities for tailoring cancer screening strategies to individuals. The authors aimed to enable a standards-based clinical decision support (CDS) platform for identifying and managing patients who meet guidelines for genetic evaluation of hereditary cancer. Data from the 2005 California Health Interview Survey (CHIS) was referenced.

Findings: The CDS platform was executed against a target population of 143,012 patients; 5,245 (3.7%) met criteria for genetic evaluation based on the FHH recorded in the EHR. In a clinical pilot study, genetic counselors attempted to reach out to 71 of the patients. Of those patients, 25 (35%) scheduled an appointment, 10 (14%) declined, 2 (3%) did not need genetic counseling, 7 (10%) said they would consider it in the future, and 27 (38%) were unreachable. To date, 13 (52%) of the scheduled patients completed visits, and 2 (15%) of those were found to have pathogenic variants in cancer predisposition genes. A standards-based CDS platform integrated with EHR systems is a promising population-based approach to identify patients who are appropriate candidates for genetic evaluation of hereditary cancers.