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Cardiovascular genetic counseling is associated with improved patient-reported outcomes across clinical indications and settings

Murray, B.; Gordon, C.; Christian, S.; Dzwiniel, T.; Tichnell, C.; Brown, E.; MacCarrick, G.; McClellan, R.; Reuter, C.; Ison, H. E.; Carter, J.; Moscarello, T.; Murtha, R.; Pariani, M.; Platt, J.; Rigelsky, C. M.; Clements, D.; Crawford, P. J.; Liu, J.; Jordan, E.; Hylind, R. J.; Wong, E. K.; Wang, S.; Lindsay-Mills, Z.; Betts, M. N.; Tricou, E.; Sturm, A. C.; Buchanan, A. H.; Fitzgerald-Butt, S.; Helm, B. M.; Yeates, L.; Caleshu, C. A.; Ingles, J.; Yanek, L. R.; James, C. A.

2025-10-01 genetic and genomic medicine
10.1101/2025.09.29.25336936 medRxiv
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BackgroundContemporary guidelines recommend genetic counseling for potentially inherited cardiomyopathies, channelopathies, aortopathies, and dyslipidemias, but few, small, studies characterize cardiovascular genetic counseling (CVGC) outcomes impeding efforts to improve CVGC service delivery. We aimed to 1) quantify psychosocial CVGC outcomes, 2) identify clinical, demographic, and service delivery characteristics associated with extent of benefit from CVGC, and 3) determine how outcomes are associated with patient-reported quality of the genetic counselor (GC):patient alliance. Methods890 adults attending a first outpatient CVGC appointment at eight United States and Canadian medical centers completed questionnaires assessing empowerment (Genetic Counseling Outcome Scale [GCOS-24]), worry (modified Cancer Worry Scale [CWS]), cardiac anxiety (Cardiac Anxiety Questionnaire [CAQ]), and GC:patient alliance (Working Alliance Inventory-patient [WAI-SR]) prior to and up to 4 weeks post-CVGC, but before results of genetic tests ordered were returned to decouple CVGC and genetic test result impact. ResultsFollowing CVGC, empowerment increased (GCOS-24 change: +5.94{+/-}11.6, p<0.001), worry decreased (CWS change: -0.40{+/-}3.55, p=0.002), and cardiac fear decreased (CAQ fear subscale change: -0.034{+/-}0.46, p=0.033) with no change in whole-scale CAQ (0.013{+/-}0.34, p=0.29). In linear regression, worry decreased most in patients with less formal education (p=0.0021), with an arrhythmia indication (p=0.013), and who were at-risk family members (p=0.016) while strength of the GC:patient alliance had no impact. In contrast, the GC:patient alliance was strongly positively associated with change in empowerment (p<0.001). ConclusionsThis observational, multicenter, multiprovider study provides foundational evidence that CVGC is associated with increased empowerment and decreased worry in adults attending outpatient CVGC and suggests opportunities for optimizing CVGC services.

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