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Investigation of the Use of a Family Health History Application in Genetic Counseling
Author(s) -
Tipsword Meghan L.,
White Peter S.,
Spaeth Christine G.,
Ittenbach Richard F.,
Myers Melanie F.
Publication year - 2018
Publication title -
journal of genetic counseling
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.867
H-Index - 52
eISSN - 1573-3599
pISSN - 1059-7700
DOI - 10.1007/s10897-017-0196-2
Subject(s) - proband , usability , documentation , consanguinity , genetic counseling , medicine , grandparent , family medicine , psychology , computer science , genetics , pediatrics , developmental psychology , human–computer interaction , biology , gene , mutation , programming language
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.

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