Genetics in medicine : official journal of the American College of Medical Genetics · 2026
A Pilot Study of the Hereditary Heart Disease Risk Algorithm and User Experience of the Family Health Risk Calculator.
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Webber Regan, Khafagy Hibatallah, Zecchino Natali, Nomo Alberta, Yu Yue, Parker Patricia, Hovick Shelly, Sweet Kevin, Jordan Elizabeth
Аннотация
PURPOSE: Family Health Risk Calculator (FHRC) is a self-administered web tool that collects personal and family history (FH) and identifies individuals qualifying for genetic testing for hereditary heart disease (HHD) and cancer risk. This pilot study evaluated the updated HHD algorithm and user experience in a high-risk adult population.
METHODS: A retrospective chart review assessed concordance between FHRC HHD assessment and genetic testing recommendations by cardiovascular genetic counselors (CVGC) at an academic medical center. User experience was evaluated using the Post-Study System Usability Questionnaire (PSSUQ) and semi-structured interviews.
RESULTS: FHRC and CVGC assessment for HHD were concordant in 94% (n=232) of elevated (n=230) and average risk (n=2) cases. Fifteen percent (n=34) of elevated risk individuals met criteria in personal history only, 36% (n=83) in FH only, and 49% (n=113) in both. Fourteen assessments were discordant: 8 involved FH of specific genetic diagnoses and others included diagnoses not integrated in FHRC. Interviewed individuals (n=19) found FHRC user-friendly and scored it highly on the PSSUQ (mean 2.04/7). Limited FH knowledge was identified as a barrier.
CONCLUSION: The FHRC HHD algorithm showed high concordance with clinical assessment and favorable usability in a high-risk adult population, though refinements are needed before broader population implementation.
METHODS: A retrospective chart review assessed concordance between FHRC HHD assessment and genetic testing recommendations by cardiovascular genetic counselors (CVGC) at an academic medical center. User experience was evaluated using the Post-Study System Usability Questionnaire (PSSUQ) and semi-structured interviews.
RESULTS: FHRC and CVGC assessment for HHD were concordant in 94% (n=232) of elevated (n=230) and average risk (n=2) cases. Fifteen percent (n=34) of elevated risk individuals met criteria in personal history only, 36% (n=83) in FH only, and 49% (n=113) in both. Fourteen assessments were discordant: 8 involved FH of specific genetic diagnoses and others included diagnoses not integrated in FHRC. Interviewed individuals (n=19) found FHRC user-friendly and scored it highly on the PSSUQ (mean 2.04/7). Limited FH knowledge was identified as a barrier.
CONCLUSION: The FHRC HHD algorithm showed high concordance with clinical assessment and favorable usability in a high-risk adult population, though refinements are needed before broader population implementation.