Clinical Trial of the Sequence of Cardiovascular Genetic Counseling and Testing

Genetic Counseling Clinical Trial

— RESEQUENCEGC  

Official title:

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

Clinical Trial Details — Status: Enrolling by invitation

Administrative data

• NCT number: NCT05422573
• Other study ID #: IRB00320656
• Secondary ID: R01HG011902
• Status: Enrolling by invitation
• Phase: N/A
• Start date: December 20, 2022
• Est. completion date: September 2025

Study information

• Verified date: December 2023
• Source: Johns Hopkins University
• Contact: n/a
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial 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.

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).

Recruitment information / eligibility

• Status: Enrolling by invitation
• Enrollment: 510
• Est. completion date: September 2025
• Est. primary completion date: February 2025
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years and older

Eligibility

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).

Related Conditions & MeSH terms

• Genetic Counseling
• Heart Diseases

Intervention

Behavioral:
• post-test cardiovascular genetic counseling with pre-test education by video
post-test cardiovascular genetic counseling with pre-test education by video
• required phone call with genetic counselor pre-test
REQUIRED phone call with genetic counselor pre-test.
• optional phone call with genetic counselor pre-test
OPTIONAL phone call with genetic counselor pre-test

Locations

Country	Name	City	State
United States	Johns Hopkins University	Baltimore	Maryland

Sponsors (2)

Lead Sponsor	Collaborator
Johns Hopkins University	National Human Genome Research Institute (NHGRI)

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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
Primary	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
Primary	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
Primary	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	Change in engagement as assessed by Patient Activation Measure	Change in patient engagement as measured by the short form of the Patient Activation Measure (PAM-13). The PAM-13 includes a 4-item Likert scale response set with higher scores indicating higher patient activation. To calculate the total PAM score, the raw score is divided by the number of items answered (excepting non-applicable items) and multiplied by 13. Then, this score is transformed to a scale with a theoretical range 0-100, based on calibration tables, with higher PAM scores indicating higher patient activation.	Baseline, 6-months post results disclosure
Secondary	Informed Choice as assessed by Multidimensional Model of informed Choice pilot scales	Multidimensional Model of informed Choice pilot scales for familial hypercholesterolemia (FH) and cardiomyopathy/arrhythmia testing will be used. This is a scale that combines a subscale with 8 True/false knowledge about cardiovascular genetics and genetic testing questions scored as number correct with a 5-item scale with a Likert scale response set assessing attitudes toward genetic testing. The entire scale is scored by combining knowledge, values and testing choice made.	up to 14 days post-education