Clinical trial NCT05422573: Clinical Trial of the Sequence of Cardiovascular Genetic Counseling and Testing
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
Overall status: ENROLLING_BY_INVITATION
Phase: NA
Conditions: Genetic Counseling
Inherited Cardiac Disease
Keywords: inherited heart disease
Lead sponsor: Johns Hopkins University
Sponsor class: OTHER
Collaborators: name: National Human Genome Research Institute (NHGRI)
First posted: 2022-06-16
Enrollment: 510
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: RANDOMIZED
Intervention model: PARALLEL
Primary purpose: OTHER

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).

Eligibility criteria: 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).

Primary outcomes:
measure: Change in empowerment as measured on the Genetic Counseling Outcomes Scale (GCOS)
timeFrame: Baseline up to 2-weeks after genetic counseling result appointment / disclosure
measure: Anxiety as measured on the Hospital Anxiety and Depression Scale (HADS)
timeFrame: 6-months post results disclosure
measure: Medical adherence as assessed by proportion of completed screening tests
timeFrame: 6-months post results disclosure
measure: Efficiency as assessed by minutes of counseling time
timeFrame: Up to 6-months post results disclosure
Secondary outcomes:
measure: Change in engagement as assessed by Patient Activation Measure
timeFrame: Baseline, 6-months post results disclosure
measure: Informed Choice as assessed by Multidimensional Model of informed Choice pilot scales
timeFrame: up to 14 days post-education
Other outcomes:
Locations:
city: Baltimore
country: United States
facility: Johns Hopkins University
state: Maryland
Study officials:
affiliation: Johns Hopkins University
name: Cynthia James
role: PRINCIPAL_INVESTIGATOR
References: