TY  - JOUR
T1  - Genetic Screening for Detecting Individuals at Elevated Risk of Heart Failure
A1  - Thomas R. Nguyen
A1  - Daniel K. Moore
A1  - Jessica A. White
JF  - Bulletin of Pioneering Researches of Medical and Clinical Science
JO  - Bull Pioneer Res Med Clin Sci
SN  - 3006-2659
Y1  - 2022
VL  - 2
IS  - 1
DO  - 10.51847/XefKtOGquq
SP  - 145
EP  - 153
N2  - Heart failure (HF) is a common and serious condition, yet identifying individuals at greatest risk—especially before symptoms appear—remains a challenge. In this study, we introduce and validate a new genetic testing approach designed to predict HF susceptibility, leveraging data from three separate Australian and US cohorts. The first phase utilized the Baker Biobank case–control cohort, revealing 41 genetic variants associated with HF risk through genome-wide association and interaction analyses. A second phase expanded the panel with 29 additional single-nucleotide polymorphisms, and combining both phases produced a comprehensive test demonstrating strong predictive performance, with an Area Under the Curve (AUC) of 0.93 and balanced accuracy of 0.89. Participants identified as high genetic risk in the Baker Biobank cohort showed an odds ratio of 533.2. External validation in the Busselton Health Study and Atherosclerosis Risk in Communities cohorts confirmed the test’s reliability, with AUCs of 0.83 and 0.72, balanced accuracies of 0.76 and 0.67, and odds ratios of 12.3 and 4.6, respectively. These results highlight the significant contribution of genetic factors to HF and indicate that this test could provide a powerful tool for early, personalized HF risk prediction.
UR  - https://bprmcs.com/article/genetic-screening-for-detecting-individuals-at-elevated-risk-of-heart-failure-51htlhqkzaby5or
ER  -