Clinical Trial of the Sequence of Cardiovascular Genetic Counseling and Testing

NCT ID: NCT05422573

Last Updated: 2025-07-10

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.

Recruitment Status

ENROLLING_BY_INVITATION

Clinical Phase

NA

Total Enrollment

510 participants

Study Classification

INTERVENTIONAL

Study Start Date

2022-12-20

Study Completion Date

2026-09-30

Brief Summary

Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.

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

Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.

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

See the medical conditions and disease areas that this research is targeting or investigating.

Genetic Counseling Inherited Cardiac Disease

Study Design

Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.

Allocation Method

RANDOMIZED

Intervention Model

PARALLEL

Primary Study Purpose

OTHER

Blinding Strategy

SINGLE

Outcome Assessors

Study Groups

Review each arm or cohort in the study, along with the interventions and objectives associated with them.

Standard of care

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

Group Type NO_INTERVENTION

No interventions assigned to this group

Efficiency

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.

Group Type EXPERIMENTAL

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

Intervention Type BEHAVIORAL

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

optional phone call with genetic counselor pre-test

Intervention Type BEHAVIORAL

OPTIONAL phone call with genetic counselor pre-test

Flipped

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.

Group Type EXPERIMENTAL

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

Intervention Type BEHAVIORAL

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

required phone call with genetic counselor pre-test

Intervention Type BEHAVIORAL

REQUIRED phone call with genetic counselor pre-test.

Interventions

Learn about the drugs, procedures, or behavioral strategies being tested and how they are applied within this trial.

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

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

Intervention Type BEHAVIORAL

required phone call with genetic counselor pre-test

REQUIRED phone call with genetic counselor pre-test.

Intervention Type BEHAVIORAL

optional phone call with genetic counselor pre-test

OPTIONAL phone call with genetic counselor pre-test

Intervention Type BEHAVIORAL

Eligibility Criteria

Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.

Inclusion Criteria

1. Adult (age 18+) scheduled for outpatient genetic counseling in the Johns Hopkins Center for Inherited Heart Diseases,
2. 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,
3. next-generation cardiovascular sequencing panel clinically indicated.


1. Adult (age 18+) scheduled for outpatient genetic counseling in the Johns Hopkins Center for Inherited Heart Diseases,
2. Documented pathogenic or likely pathogenic variant in a gene associated with a hereditary cardiomyopathy, arrhythmia syndrome, or lipid disease in a family member,
3. Referred to the Center for Inherited Heart Diseases for family-specific variant testing.

Exclusion Criteria

1. Previous genetic counseling at Johns Hopkins for this clinical indication,
2. Previous genetic testing that definitively identified the genetic cause of the patient's condition,
3. Patient unable to speak or read English,
4. 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),
5. Next generation sequencing panel not clinically indicated (panel cohort only).
Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

Meet the organizations funding or collaborating on the study and learn about their roles.

National Human Genome Research Institute (NHGRI)

NIH

Sponsor Role collaborator

Johns Hopkins University

OTHER

Sponsor Role lead

Responsible Party

Identify the individual or organization who holds primary responsibility for the study information submitted to regulators.

Responsibility Role SPONSOR

Principal Investigators

Learn about the lead researchers overseeing the trial and their institutional affiliations.

Cynthia James

Role: PRINCIPAL_INVESTIGATOR

Johns Hopkins University

Locations

Explore where the study is taking place and check the recruitment status at each participating site.

Johns Hopkins University

Baltimore, Maryland, United States

Site Status

Countries

Review the countries where the study has at least one active or historical site.

United States

Other Identifiers

Review additional registry numbers or institutional identifiers associated with this trial.

R01HG011902

Identifier Type: NIH

Identifier Source: secondary_id

View Link

IRB00320656

Identifier Type: -

Identifier Source: org_study_id

More Related Trials

Additional clinical trials that may be relevant based on similarity analysis.

Overcoming Barriers to Accessing Genetic Medicine
NCT05064241 ACTIVE_NOT_RECRUITING NA
Pediatric Reporting of Adult-Onset Genomic Results
NCT03832985 COMPLETED EARLY_PHASE1