Back to resultsClinical Trial of the Sequence of Cardiovascular Genetic Counseling and Testing (RESEQUENCEGC)
Primary Purpose
Genetic Counseling, Inherited Cardiac Disease
Status
Enrolling by invitation
Phase
Not Applicable
Locations
United States
Study Type
Interventional
Intervention
post-test cardiovascular genetic counseling with pre-test education by video
required phone call with genetic counselor pre-test
optional phone call with genetic counselor pre-test
Sponsored by
About this trial
This is an interventional other trial for Genetic Counseling focused on measuring inherited heart disease
Eligibility Criteria
Inclusion Criteria:
Cardiovascular panel testing inclusion criteria:
- 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.
Family specific variant testing inclusion criteria:
- 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.
Exclusion Criteria:
- 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).
Sites / Locations
- Johns Hopkins University
Arms of the Study
Arm 1
Arm 2
Arm 3
Arm Type
No Intervention
Experimental
Experimental
Arm Label
Standard of care
Efficiency
Flipped
Arm Description
Pre-test genetic counseling appointment with results returned by phone or EHR. Post-test appointment available upon request.
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.
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.
Outcomes
Primary Outcome Measures
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.
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.
Medical adherence as assessed by proportion of completed screening tests
Proportion of recommended cardiology appointments and screening tests completed or scheduled
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.
Secondary Outcome Measures
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.
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.
Full Information
NCT ID
NCT05422573
First Posted
June 14, 2022
Last Updated
December 20, 2022
Sponsor
Johns Hopkins University
Collaborators
National Human Genome Research Institute (NHGRI)
1. Study Identification
Unique Protocol Identification Number
NCT05422573
Brief Title
Clinical Trial of the Sequence of Cardiovascular Genetic Counseling and Testing
Acronym
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
Study Type
Interventional
2. Study Status
Record Verification Date
December 2022
Overall Recruitment Status
Enrolling by invitation
Study Start Date
December 20, 2022 (Actual)
Primary Completion Date
February 2025 (Anticipated)
Study Completion Date
September 2025 (Anticipated)
3. Sponsor/Collaborators
Responsible Party, by Official Title
Sponsor
Name of the Sponsor
Johns Hopkins University
Collaborators
National Human Genome Research Institute (NHGRI)
4. Oversight
Studies a U.S. FDA-regulated Drug Product
No
Studies a U.S. FDA-regulated Device Product
No
Data Monitoring Committee
No
5. Study Description
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.
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).
6. Conditions and Keywords
Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Genetic Counseling, Inherited Cardiac Disease
Keywords
inherited heart disease
7. Study Design
Primary Purpose
Other
Study Phase
Not Applicable
Interventional Study Model
Parallel Assignment
Masking
Outcomes Assessor
Allocation
Randomized
Enrollment
510 (Anticipated)
8. Arms, Groups, and Interventions
Arm Title
Standard of care
Arm Type
No Intervention
Arm Description
Pre-test genetic counseling appointment with results returned by phone or EHR. Post-test appointment available upon request.
Arm Title
Efficiency
Arm Type
Experimental
Arm 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.
Arm Title
Flipped
Arm Type
Experimental
Arm 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.
Intervention Type
Behavioral
Intervention Name(s)
post-test cardiovascular genetic counseling with pre-test education by video
Intervention Description
post-test cardiovascular genetic counseling with pre-test education by video
Intervention Type
Behavioral
Intervention Name(s)
required phone call with genetic counselor pre-test
Intervention Description
REQUIRED phone call with genetic counselor pre-test.
Intervention Type
Behavioral
Intervention Name(s)
optional phone call with genetic counselor pre-test
Intervention Description
OPTIONAL phone call with genetic counselor pre-test
Primary Outcome Measure Information:
Title
Change in empowerment as measured on the Genetic Counseling Outcomes Scale (GCOS)
Description
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.
Time Frame
Baseline up to 2-weeks after genetic counseling result appointment / disclosure
Title
Anxiety as measured on the Hospital Anxiety and Depression Scale (HADS)
Description
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.
Time Frame
6-months post results disclosure
Title
Medical adherence as assessed by proportion of completed screening tests
Description
Proportion of recommended cardiology appointments and screening tests completed or scheduled
Time Frame
6-months post results disclosure
Title
Efficiency as assessed by minutes of counseling time
Description
Total minutes of counseling time per patient documented in the electronic health record including visit and phone notes.
Time Frame
Up to 6-months post results disclosure
Secondary Outcome Measure Information:
Title
Change in engagement as assessed by Patient Activation Measure
Description
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.
Time Frame
Baseline, 6-months post results disclosure
Title
Informed Choice as assessed by Multidimensional Model of informed Choice pilot scales
Description
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.
Time Frame
up to 14 days post-education
10. Eligibility
Sex
All
Minimum Age & Unit of Time
18 Years
Accepts Healthy Volunteers
No
Eligibility Criteria
Inclusion Criteria:
Cardiovascular panel testing inclusion criteria:
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.
Family specific variant testing inclusion criteria:
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.
Exclusion Criteria:
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).
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Cynthia James
Organizational Affiliation
Johns Hopkins University
Official's Role
Principal Investigator
Facility Information:
Facility Name
Johns Hopkins University
City
Baltimore
State/Province
Maryland
ZIP/Postal Code
21287
Country
United States
12. IPD Sharing Statement
Plan to Share IPD
No
Learn more about this trial
Clinical Trial of the Sequence of Cardiovascular Genetic Counseling and Testing
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