Clinical Trial of the Sequence of Cardiovascular Genetic Counseling and Testing (NCT05422573) | Clinical Trial Compass
CompletedNot Applicable
Clinical Trial of the Sequence of Cardiovascular Genetic Counseling and Testing
United States393 participantsStarted 2022-12-20
Plain-language 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.
Who can participate
Age range
18 Years
Sex
ALL
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
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,
. 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,
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1This trial looked at the sequence or order in which genetic counseling and testing are done for inherited heart conditions — can you explain how the order of those steps might affect my experience or outcomes based on what this study found?
2The trial measured something called 'empowerment' using a scale called the GCOS — do you know whether patients who went through one sequence felt more in control of their care than those who went through a different order?
3One of the things this study tracked was anxiety levels during the genetic counseling and testing process — what does the evidence suggest about managing anxiety at each stage, and how would you support me emotionally if I go through this process?
4The trial also measured whether patients completed their recommended screening tests — based on what this research found, what can we do together to make sure I actually follow through on any cardiac screening that gets recommended for me?
5Since this trial has already been completed, has the sequence it tested changed how your practice approaches genetic counseling for inherited heart conditions, and would the approach used in this study be similar to what you'd recommend for me?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
What they're measuring
1
Change in empowerment as measured on the Genetic Counseling Outcomes Scale (GCOS)
Timeframe: Baseline up to 2-weeks after genetic counseling result appointment / disclosure
2
Anxiety as measured on the Hospital Anxiety and Depression Scale (HADS)
Timeframe: 6-months post results disclosure
3
Medical adherence as assessed by proportion of completed screening tests
Timeframe: 6-months post results disclosure
4
Efficiency as assessed by minutes of direct counseling time
. 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).