Genetic CounselingRESEQUENCEGCNCT05422573
Clinical Trial of the Sequence of Cardiovascular Genetic Counseling and Testing
A study testing post-test cardiovascular genetic counseling with pre-test education by video, required phone call with genetic counselor pre-test and optional phone call with genetic counselor pre-test in people with Genetic Counseling and Inherited Cardiac Disease, run by Johns Hopkins University at 1 site in United States.
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… Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Genetic Counseling, Inherited Cardiac Disease
- What is being tested?
- post-test cardiovascular genetic counseling with pre-test education by video, required phone call with genetic counselor pre-test and optional phone call with genetic counselor pre-test
- Type of treatment
- Lifestyle or therapy programme
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 393 participants
- Where
- 1 siteUnited States
- Study dates
- 20 Dec 2022to 30 Jun 2026
- Phase
- Interventional
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- 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.
Who cannot join
- 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).
Trial locations and contacts
1 site in 1 country.
About this study
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
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.
Read the 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).
- Conditions
- Genetic Counseling, Inherited Cardiac Disease
- Being tested
- 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
- Keywords
- inherited heart disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
post-test cardiovascular genetic counseling with pre-test education by videoBehavioural
post-test cardiovascular genetic counseling with pre-test education by video
required phone call with genetic counselor pre-testBehavioural
REQUIRED phone call with genetic counselor pre-test.
optional phone call with genetic counselor pre-testBehavioural
OPTIONAL phone call with genetic counselor pre-test
| Study group | Role | What they receive |
|---|---|---|
| Standard of care | No intervention | Pre-test genetic counseling appointment with results returned by phone or EHR. Post-test appointment available upon request. |
| Efficiency | Experimental | 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. Receives: Behavioral: post-test cardiovascular genetic counseling with pre-test education by video; Behavioral: optional phone call with genetic counselor pre-test |
| Flipped | Experimental | 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. Receives: Behavioral: post-test cardiovascular genetic counseling with pre-test education by video; Behavioral: required phone call with genetic counselor pre-test |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: Baseline up to 2-weeks after genetic counseling result appointment / disclosure
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.
Measured: 6-months post results disclosure
Medical adherence as assessed by proportion of completed screening tests
Proportion of recommended cardiology appointments and screening tests completed or scheduled
Measured: 6-months post results disclosure
Efficiency as assessed by minutes of direct counseling time
Total minutes of counseling time per patient documented in the electronic health record including visit and phone notes.
Measured: Up to 6-months post results disclosure
Secondary outcomes (2)
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.
Measured: Baseline, 6-months post results disclosure
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.
Measured: up to 14 days post-education
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted16 Jun 2022
- Study start20 Dec 2022
- Primary completion21 May 2026
- Study completion30 Jun 2026
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Genetic CounselingStudies of the same condition, open and under way.
- More trials run by Johns Hopkins UniversityThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Other
- Allocation
- Randomised
- Intervention model
- Parallel groups
- Masking
- Single blind
- Who is masked
- Outcomes assessor
- Enrolment
- 393 participants (actual)
Sponsor and investigators
- Lead sponsor
- Johns Hopkins University
- Sponsor type
- University, hospital or other
- Collaborators
- National Human Genome Research Institute (NHGRI)
- Responsible party
- Sponsor
- Investigators
- Cynthia James, Principal investigator, Johns Hopkins University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05422573
- Sponsor's protocol ID
- IRB00320656
- Other IDs
- R01HG011902
- Acronym
- RESEQUENCEGC
- Status last verified
- Oct 2026
- First submitted
- 14 Jun 2022
- Last updated
- 29 Oct 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 29 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- 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
- ClinicalTrials.gov ID
- NCT05422573
- Acronym / sponsor ID
- RESEQUENCEGC / IRB00320656
- Conditions
- Genetic Counseling, Inherited Cardiac Disease
- Keywords
- inherited heart disease
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 393 participants (actual)
- Lead sponsor
- Johns Hopkins UniversityUniversity, hospital or other
- Collaborators
- National Human Genome Research Institute (NHGRI)
- Study start
- 20 Dec 2022 (actual)
- Primary completion
- 21 May 2026 (actual)
- Study completion
- 30 Jun 2026 (actual)
- First posted
- 16 Jun 2022 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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).
Study design
- Primary purpose
- Other
- Allocation
- Randomised
- Intervention model
- Parallel groups
- Masking
- Single blind (outcomes assessor)
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| Standard of care | No intervention | –Pre-test genetic counseling appointment with results returned by phone or EHR. Post-test appointment available upon request. |
| Efficiency | Experimental | Behavioral: post-test cardiovascular genetic counseling with pre-test education by video, Behavioral: optional phone call with genetic counselor pre-testPre-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. |
| Flipped | Experimental | Behavioral: post-test cardiovascular genetic counseling with pre-test education by video, Behavioral: required phone call with genetic counselor pre-testPre-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. |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (8 listed)
- 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.
- 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,
Key exclusion criteria (5 listed)
- 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).
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| post-test cardiovascular genetic counseling with pre-test education by videopost-test cardiovascular genetic counseling with pre-test education by video | Behavioural | Efficiency, Flipped |
| required phone call with genetic counselor pre-testREQUIRED phone call with genetic counselor pre-test. | Behavioural | Flipped |
| optional phone call with genetic counselor pre-testOPTIONAL phone call with genetic counselor pre-test | Behavioural | Efficiency |
Primary outcome
Change in empowerment as measured on the Genetic Counseling Outcomes Scale (GCOS)
Time frame: Baseline up to 2-weeks after genetic counseling result appointment / disclosure
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)
Time frame: 6-months post results disclosure
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
Time frame: 6-months post results disclosure
Proportion of recommended cardiology appointments and screening tests completed or scheduled
Efficiency as assessed by minutes of direct counseling time
Time frame: Up to 6-months post results disclosure
Total minutes of counseling time per patient documented in the electronic health record including visit and phone notes.
2 secondary outcomes
Change in engagement as assessed by Patient Activation Measure
Time frame: Baseline, 6-months post results disclosure
Informed Choice as assessed by Multidimensional Model of informed Choice pilot scales
Time frame: up to 14 days post-education
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 29 Oct 2026.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Cynthia James principal investigator
Johns Hopkins University
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing post-test cardiovascular genetic counseling with pre-test education by video, required phone call with genetic counselor pre-test and optional phone call with genetic counselor pre-test in people with Genetic Counseling and Inherited Cardiac Disease, run by Johns Hopkins University at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 8 inclusion and 5 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 29 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Change in empowerment as measured on the Genetic Counseling Outcomes Scale (GCOS) (time frame: Baseline up to 2-weeks after genetic counseling result appointment / disclosure). The study lists 4 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 29 Oct 2026.