Clinical Trial of the Sequence of Cardiovascular Genetic Counseling and Testing (RESEQUENCEGC)

Johns Hopkins University

Status: Invitation-only

Conditions: Genetic Counseling; Inherited Cardiac Disease

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

Study type: Interventional

Funder types: Other; NIH

Identifiers

NCT05422573

R01HG011902 (U.S. NIH Grant/Contract)

IRB00320656

Details and patient eligibility

About

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.

Full 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).

Enrollment: 510 estimated patients

Sex: All

Ages: 18+ years old

Volunteers: No Healthy Volunteers

Inclusion criteria

Cardiovascular panel testing 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.

Family specific variant testing inclusion criteria:

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).

Trial design

Primary purpose: Other

Allocation: Randomized

Interventional model: Parallel Assignment

Masking: Single Blind

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510 participants in 3 patient groups

Standard of care

No Intervention group

Description:

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

Efficiency

Experimental group

Description:

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.

Treatment:

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

Behavioral: optional phone call with genetic counselor pre-test

Flipped

Experimental group

Description:

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.

Treatment:

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

Behavioral: required phone call with genetic counselor pre-test