Clinical Trial of the Sequence of Cardiovascular Genetic Counseling and Testing

NCT05422573 | Enrolling By Invitation

• 2 other identifiers: IRB00320656R01HG011902
• Study Type: interventional
• Target: 510
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

Genetic Counseling; Inherited Cardiac Disease

Keywords

inherited heart disease

Outcome Measures

Primary Outcomes (4)

• Change in empowerment as measured on the Genetic Counseling Outcomes Scale (GCOS)

  Change in empowerment as measured on the Genetic Counseling Outcomes Scale (GCOS). The GCOS is 24-item Likert scale with a 7-item response set. Scores range from 24-168 with higher scores indicating higher empowerment.

  Baseline up to 2-weeks after genetic counseling result appointment / disclosure

• Anxiety as measured on the Hospital Anxiety and Depression Scale (HADS)

  Anxiety as measured on the Hospital Anxiety and Depression Scale (HADS). The HADS contains 14 items measured on a 4-point Likert scale. The anxiety subscale contains 7 items. HADS subscale scores ≥8 indicate potentially clinically significant anxiety and depression and scores ≥10 a likely case.

  6-months post results disclosure

• Medical adherence as assessed by proportion of completed screening tests

  Proportion of recommended cardiology appointments and screening tests completed or scheduled

  6-months post results disclosure

• Efficiency as assessed by minutes of counseling time

  Total minutes of counseling time per patient documented in the electronic health record including visit and phone notes.

  Up to 6-months post results disclosure

Secondary Outcomes (2)

• Change in engagement as assessed by Patient Activation Measure

  Baseline, 6-months post results disclosure

• Informed Choice as assessed by Multidimensional Model of informed Choice pilot scales

  up to 14 days post-education

Study Arms (3)

Standard of care

NO INTERVENTION

Pre-test genetic counseling appointment with results returned by phone or EHR. Post-test appointment available upon request.

Efficiency

EXPERIMENTAL

Pre-test genetics education by educational video with an OPTIONAL call with a genetic counselor to address questions. Pre-test appointment available by request. Post-test genetic counseling appointment.

Behavioral: post-test cardiovascular genetic counseling with pre-test education by video; Behavioral: optional phone call with genetic counselor pre-test

Flipped

EXPERIMENTAL

Pre-test genetics education by educational video with a REQUIRED call with a genetic counselor to address questions. Pre-test appointment available by request. Post-test genetic counseling appointment.

Behavioral: post-test cardiovascular genetic counseling with pre-test education by video; Behavioral: required phone call with genetic counselor pre-test

Interventions

post-test cardiovascular genetic counseling with pre-test education by video BEHAVIORAL

post-test cardiovascular genetic counseling with pre-test education by video

Efficiency; Flipped

required phone call with genetic counselor pre-test BEHAVIORAL

REQUIRED phone call with genetic counselor pre-test.

Flipped

optional phone call with genetic counselor pre-test BEHAVIORAL

OPTIONAL phone call with genetic counselor pre-test

Efficiency

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• Adult (age 18+) scheduled for outpatient genetic counseling in the Johns Hopkins Center for Inherited Heart Diseases,
• Clinical diagnosis or suspected clinical diagnosis of a potentially inherited cardiovascular disease including a) hypertrophic, dilated, or arrhythmogenic cardiomyopathy, b) ventricular or atrial arrhythmias or an ECG-pattern suspicious for an inherited cardiovascular disease including catecholaminergic polymorphic ventricular tachycardia, long QT syndrome, or Brugada syndrome, or c) a diagnosed or suspected lipid disorder or early-onset coronary artery disease,
• next-generation cardiovascular sequencing panel clinically indicated.
• Adult (age 18+) scheduled for outpatient genetic counseling in the Johns Hopkins Center for Inherited Heart Diseases,
• Documented pathogenic or likely pathogenic variant in a gene associated with a hereditary cardiomyopathy, arrhythmia syndrome, or lipid disease in a family member,
• Referred to the Center for Inherited Heart Diseases for family-specific variant testing.

You may not qualify if:

• Previous genetic counseling at Johns Hopkins for this clinical indication,
• Previous genetic testing that definitively identified the genetic cause of the patient's condition,
• Patient unable to speak or read English,
• Genetic counseling appointment is not anticipated to include genetic testing (for instance if it was scheduled to discuss family communication or adaptation to a new diagnosis),
• Next generation sequencing panel not clinically indicated (panel cohort only).

Sponsors & Collaborators

• Johns Hopkins University: lead
• National Human Genome Research Institute (NHGRI): collaborator

Study Sites (1)

Johns Hopkins University

Baltimore, Maryland, 21287, United States

Location

Study Officials

• Cynthia James

  Johns Hopkins University

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: RANDOMIZED
• Masking: SINGLE
• Who Masked: OUTCOMES ASSESSOR
• Purpose: OTHER
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 14, 2022
• First Posted: June 16, 2022
• Study Start: December 20, 2022
• Primary Completion: May 1, 2026
• Study Completion (Estimated): September 1, 2026
• Last Updated: July 10, 2025

Record last verified: 2025-07

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)