Investigation of the Use of a Family Health History Application in Genetic Counseling

Abstract

The paper-based pedigree is the current standard for family health history (FHH) documentation in genetic counseling. Several tools for electronic capture of family health data have been developed to improve re-use and accessibility, data quality and standardization, ease of updating, and integration with electronic medical records. One such tool, the tablet-based Proband application, provides a flexible approach to data capture in dynamic and diverse clinical settings. This study compared Proband FHH collection to paper-based methods and investigated the usability of Proband in a clinical setting. After one use by 23 genetic counselors and students, Proband had 91% accuracy with a FHH audio scenario, which was significantly less (p < 0.001) than paper’s 96% accuracy. These differences were attributed to incorrect or missing ages of grandparents (p < 0.001) and great-aunts/uncles (p = 0.012) and missing documentation of consanguinity (p < 0.001). Possible explanations for these differences include greater experience with paper FHH documentation and pre-populated prompts for consanguinity on the paper template used. Proband’s perceived usability increased with use, with individual System Usability Scores increasing between first and last use (p = 0.033). We conclude that tools for dynamic, provider-driven FHH documentation such as Proband show promise for improving risk assessment accuracy and quality patient care.