Genetic Counseling Sequence for Heart Disease

(RESEQUENCEGC Trial)

Overseen By Crystal Tichnell, RN

Age: 18+

Sex: Any

Trial Phase: Academic

Sponsor: Johns Hopkins University

Disqualifiers: Previous counseling, Previous testing, others

No Placebo Group All trial participants will receive the active study treatment (no placebo)

Compensation: Varies

Number of Visits: 4

510 Participants Needed

Trial Summary

Will I have to stop taking my current medications?

The trial information does not specify whether you need to stop taking your current medications. It focuses on genetic counseling and testing for heart disease, so it's best to discuss your medications with the trial team.

What data supports the effectiveness of this treatment for heart disease?

Research shows that telephone genetic counseling is as effective as in-person counseling for understanding genetic information and reducing distress in cancer patients. Additionally, using educational videos or computer programs before counseling can improve knowledge and reduce the time needed for counseling sessions. These findings suggest that similar methods could be effective for heart disease genetic counseling. ^{1 2 3 4 5}

Is genetic counseling for heart disease safe for humans?

Genetic counseling, whether conducted in-person or via telephone, has been shown to be safe and well-received by participants in various studies, including those for heart disease and other conditions. Participants generally report high satisfaction and positive outcomes, indicating that the process is safe for humans. ^{5 6 7 8 9}

How is the Genetic Counseling Sequence for Heart Disease treatment different from other treatments for heart disease?

This treatment is unique because it involves a structured sequence of genetic counseling sessions, including optional and required phone calls with a genetic counselor and educational videos, to help patients understand their genetic risk for heart disease. Unlike standard treatments, this approach focuses on personalized genetic education and counseling to guide patients and their families in managing inherited heart conditions. ^{6 10 11 12 13}

What is the purpose of this trial?

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.

Research Team

Cynthia James

Principal Investigator

Johns Hopkins University

Eligibility Criteria

Adults over 18 with suspected or diagnosed inherited heart conditions, including various cardiomyopathies, arrhythmias, lipid disorders, or early-onset coronary artery disease. They must be scheduled for genetic counseling at the Johns Hopkins Center and have not had previous genetic counseling/testing for their condition there.

Inclusion Criteria

I am referred for genetic testing due to family heart disease history.

You need a specific test for heart-related issues.

I may have a genetic heart condition or early heart disease.

Exclusion Criteria

You do not need a specific genetic test.

My condition's genetic cause has been identified through testing.

Previous genetic counseling at Johns Hopkins for this clinical indication

Timeline

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Pre-test Education

Participants receive pre-test genetic education via an educational video, with an optional or required call with a genetic counselor depending on the study arm

2 weeks

1 visit (virtual)

Post-test Genetic Counseling

Participants receive post-test genetic counseling to discuss test results and implications

Up to 2 weeks after test results

1 visit (in-person or virtual)

Follow-up

Participants are monitored for anxiety, engagement, empowerment, and medical adherence

6 months

Questionnaires at 2 weeks, 2 weeks post-disclosure, and 6 months post-disclosure

Treatment Details

Interventions

• optional phone call with genetic counselor pre-test
• post-test cardiovascular genetic counseling with pre-test education by video
• required phone call with genetic counselor pre-test

Trial Overview The trial is testing a new approach to cardiovascular genetic counseling by providing pre-test education via video and post-test counseling sessions. It compares usual care with two other methods: one where a call with a counselor before testing is optional and another where it's required.

Participant Groups

Group I: Flipped Experimental Treatment 2 Interventions

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.

Group II: Efficiency Experimental Treatment 2 Interventions

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.

Group III: Standard of care Active Control 1 Intervention

Pre-test genetic counseling appointment with results returned by phone or EHR. Post-test appointment available upon request.

Who Is Running the Clinical Trial?

Johns Hopkins University

Lead Sponsor

Trials

2,366

Recruited

15,160,000+

National Human Genome Research Institute (NHGRI)

Collaborator

Trials

273

Recruited

299,000+

Findings from Research

Telephone genetic counseling for BRCA1 and BRCA2 testing is as effective as in-person counseling in terms of reducing cancer-specific distress and improving genetic knowledge, based on a systematic review of four studies.

This approach may provide a viable alternative for delivering genetic services, especially during situations like the COVID-19 pandemic, although more research is needed to confirm these findings across broader populations.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

A systematic review and meta-analysis of telephone vs in-person genetic counseling in BRCA1/BRCA2 genetic testing. Bracke, X., Roberts, J., McVeigh, TP.[2021]

A study involving 72 women with a family history of breast cancer found that both face-to-face counseling by a genetic counselor and education through an interactive computer program significantly improved knowledge about breast cancer genetics, with the computer program yielding slightly higher scores.

Despite the increase in knowledge, both educational methods, when combined with counseling, led to a decrease in the intent to undergo genetic testing, suggesting that increased awareness may lead to more cautious decision-making regarding testing.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

An interactive computer program can effectively educate patients about genetic testing for breast cancer susceptibility. Green, MJ., Biesecker, BB., McInerney, AM., et al.[2022]

The study evaluated the effectiveness of an interactive computer program designed to educate women about breast cancer and genetic testing, finding that it can significantly shorten counseling sessions for low-risk individuals while maintaining high effectiveness ratings from both clients and counselors.

Using the computer program before counseling allows counselors to focus more on personal risk and decision-making, making it a valuable tool to enhance the efficiency of genetic counseling as demand for these services grows.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Use of an educational computer program before genetic counseling for breast cancer susceptibility: effects on duration and content of counseling sessions. Green, MJ., Peterson, SK., Baker, MW., et al.[2019]

References

1. United States pubmed.ncbi.nlm.nih.gov

A systematic review and meta-analysis of telephone vs in-person genetic counseling in BRCA1/BRCA2 genetic testing. [2021]

2. United States pubmed.ncbi.nlm.nih.gov

An interactive computer program can effectively educate patients about genetic testing for breast cancer susceptibility. [2022]

3. United States pubmed.ncbi.nlm.nih.gov

Use of an educational computer program before genetic counseling for breast cancer susceptibility: effects on duration and content of counseling sessions. [2019]

4. United States pubmed.ncbi.nlm.nih.gov

Comparison of Telephone and Televideo Modes for Delivery of Genetic Counseling: a Randomized Trial. [2019]

5. Netherlands pubmed.ncbi.nlm.nih.gov

The use of telephone in genetic counseling versus in-person counseling: a randomized study on counselees' outcome. [2021]

6. United States pubmed.ncbi.nlm.nih.gov

Principles of Genetic Counseling in Inherited Heart Conditions. [2023]

7. United States pubmed.ncbi.nlm.nih.gov

Assessing an Interactive Online Tool to Support Parents' Genomic Testing Decisions. [2019]

8. United States pubmed.ncbi.nlm.nih.gov

The impact of cardiovascular genetic counseling on patient empowerment. [2020]

9. Netherlands pubmed.ncbi.nlm.nih.gov

Patient and genetic counselor perceptions of in-person versus telephone genetic counseling for hereditary breast/ovarian cancer. [2018]

10. United States pubmed.ncbi.nlm.nih.gov

Genetic testing and genetic counseling in cardiovascular genetic medicine: overview and preliminary recommendations. [2019]

11. United States pubmed.ncbi.nlm.nih.gov

A Case for Inclusion of Genetic Counselors in Cardiac Care. [2018]

12. United States pubmed.ncbi.nlm.nih.gov

Clinical Cardiovascular Genetic Counselors Take a Leading Role in Team-based Variant Classification. [2019]

13. United States pubmed.ncbi.nlm.nih.gov

Provision of cardiovascular genetic counseling services: current practice and future directions. [2021]