NCT05422573

Clinical Trial of the Sequence of Cardiovascular Genetic Counseling and Testing

Randomized Clinical Trial of the Sequence of Genetic Counseling and Testing to Optimize Efficiency, Patient Empowerment and Engagement, and Medical Adherence for Diverse Genetic Testing Indications

• Status: Enrolling By Invitation
• Phase: N/A
• Study type: Interventional
• Enrollment: 510 (estimated)
• Sponsor: Johns Hopkins University · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Not accepted

Summary

Although pre-test genetic counseling is widely recommended and has come to dominate genetic counseling practice, tailored results-focused genetic counseling could both increase genetic counseling efficiency and improve genetic counseling outcomes for the growing number of patients seeking genetic testing for recommended genome-guided medical management. This study will test that hypothesis in adults referred for cardiovascular genetic counseling and testing at the Johns Hopkins Center for Inherited Heart Diseases. This study is a three-arm randomized clinical trial to evaluate two complementary approaches to shifting the primary genetic counseling session to post-test for 510 adults with two broad cardiovascular genetic counseling indications: diagnostic panel testing and family-specific variant testing. The investigators will compare usual care (pre-test genetic counseling appointment, results returned by phone / electronic health record) with online video-based pre-test tailored genetic education with an optional (efficiency arm) or required (flipped arm) phone call with a genetic counselor followed by a post-test genetic counseling appointment. The investigators hypothesize that post-test genetic counseling will: 1) increase efficiency, 2) promote patient empowerment and adherence, and 3) have similar genetic test-associated psychosocial impact.

Detailed description

This is a three-arm randomized clinical trial with a parallel-group design comparing usual care (pre-test genetic counseling, test results by phone/electronic health record (EHR)) to two approaches to post-test results-focused genetic counseling involving a pre-test educational video with an optional \[efficiency arm\] or required \[flipped arm\] phone call with a genetic counselor followed by a post-test genetic counseling appointment. Consented participants will be randomly allocated to the three study arms stratified by genetic testing indication (cardiovascular panel, family-specific variant). Questionnaires will be administered at 4 timepoints: 2 weeks before pre-test education/counseling (Q1), immediately after pre-test education/counseling and test ordered or declined (Q2), 2-weeks post-disclosure (Q3), and 6-months post-disclosure (Q4) (Aims 1-3). Data will be extracted from each participant's electronic health record (EHR) to record potential clinical covariates (Aims 1-3), validate self-reported adherence to medical recommendations (Aim 3), and obtain metrics to measure genetic counseling efficiency (Aim 4).

Conditions

• Genetic Counseling
• Inherited Cardiac Disease

Interventions

Type	Name	Description
BEHAVIORAL	post-test cardiovascular genetic counseling with pre-test education by video	post-test cardiovascular genetic counseling with pre-test education by video
BEHAVIORAL	required phone call with genetic counselor pre-test	REQUIRED phone call with genetic counselor pre-test.
BEHAVIORAL	optional phone call with genetic counselor pre-test	OPTIONAL phone call with genetic counselor pre-test

Timeline

• Start date: 2022-12-20
• Primary completion: 2026-05-01
• Completion: 2026-09-01
• First posted: 2022-06-16
• Last updated: 2025-07-10

Locations

1 site across 1 country: United States