Cardiovascular Genetic Counseling Is Associated With Improved Patient-Reported Outcomes Across Clinical Indications and Settings.

BACKGROUND

Contemporary 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 the extent of benefit from CVGC, and (3) determine how outcomes are associated with patient-reported quality of the genetic counselor:patient alliance.

METHODS

The MCVGC-GO (Multicenter Cardiovascular Genetic Counseling Outcomes Study) is a longitudinal survey-based study with pre- and post- genetic counseling data collection. Eight hundred ninety adults attending a first outpatient CVGC appointment at 8 United States and Canadian medical centers completed questionnaires assessing empowerment (Genetic Counseling Outcome Scale-24), worry (modified Cancer Worry Scale), cardiac anxiety (Cardiac Anxiety Questionnaire [CAQ]), and genetic counselor:patient alliance (Working Alliance Inventory-patient) before and up to 4 weeks post-CVGC, but before results of genetic tests ordered were returned to decouple CVGC and genetic test result impact.

RESULTS

Following CVGC, empowerment increased (Genetic Counseling Outcome Scale score change, +5.94±11.6; P<0.001), worry decreased (Cancer Worry Scale score 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) and the strength of the genetic counselor:patient alliance had no impact. In contrast, the genetic counselor:patient alliance was strongly positively associated with change in empowerment (P<0.001).

CONCLUSIONS

This 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.