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

What You Need to Know Before You Apply

What is the purpose of this trial?

This trial explores new methods for providing genetic counseling to individuals with potential hereditary heart diseases. The goal is to determine if conducting most counseling after genetic test results can make the process more efficient and empowering for patients. Participants will be divided into three groups: one receiving standard pre-test counseling, another receiving video-based education with optional phone calls with a genetic counselor, and a third receiving video education with required pre-test phone calls with a genetic counselor. Ideal participants are adults referred for genetic counseling at Johns Hopkins for suspected or confirmed inherited heart conditions. As an unphased trial, this study offers participants the chance to contribute to innovative approaches in genetic counseling, potentially enhancing future patient experiences.

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 prior data suggests that this genetic counseling sequence is safe for cardiovascular patients?

Research shows that genetic counseling, whether in person or over the phone, is generally safe and well-received by participants. Studies indicate that phone calls with a genetic counselor usually do not cause negative emotional or mental reactions. Many people find it convenient to discuss their genetic test results over the phone.

Research highlights the effectiveness of video-based education before the test, followed by counseling after the test, in making complex genetic information easier to understand. This method has been used in other situations and supports patients well.

Overall, the treatments in this trial, which include optional or required phone calls and video education, are well-tolerated. They aim to help participants understand their genetic information without causing stress or confusion. ^{1 2 3 4 5}

Why are researchers excited about this trial?

Researchers are excited about this trial because it explores innovative ways to provide genetic counseling for heart disease, potentially enhancing patient experience and understanding. The "Efficiency" approach offers flexible learning by combining a video with an optional pre-test call, allowing patients to address concerns at their convenience. The "Flipped" method goes a step further by requiring a pre-test call, ensuring that patients engage directly with a genetic counselor to clarify any questions. These methods could make genetic counseling more accessible and personalized, which is a step up from the standard of care where patients usually have a scheduled pre-test counseling session followed by results through phone or electronic records.

What evidence suggests that this trial's treatments could be effective for heart disease?

Research has shown that genetic counseling before and after testing is important and recommended in disease guidelines. Studies have found that clear communication during these sessions helps patients understand their results better and improves health outcomes. In this trial, participants in the "Efficiency" arm can opt for a phone call with a genetic counselor to ask specific questions and express concerns, leading to better engagement and satisfaction. Participants in the "Flipped" arm will have a required phone call with a genetic counselor, ensuring personalized support for informed healthcare decisions. After testing, counseling helps patients understand complex genetic information and apply it to their healthcare, empowering them and encouraging adherence to medical advice. Overall, these counseling methods aim to make genetic testing more effective and beneficial for patients with heart disease. ^{3 4 6 7 8}

Who Is on the Research Team?

Cynthia James

Principal Investigator

Johns Hopkins University

Are You a Good Fit for This Trial?

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 for a Trial Participant

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

What Are the Treatments Tested in This Trial?

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.

How Is the Trial Designed?

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+

Published Research Related to This Trial

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]

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]

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]

Citations

1. clinicaltrials.gov clinicaltrials.gov/study/NCT05422573

Clinical Trial of the Sequence of Cardiovascular Genetic ... Pre-test genetics education by educational video with an OPTIONAL call with a genetic counselor to address questions. Pre-test appointment available by request.

2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov/articles/PMC10946474/

Evaluating a communication aid for return of genetic results ... Effective pre‐test and post‐test genetic counseling is critical and recognized in disease guidelines, and focuses on clear communication of the likely outcomes ...

3. withpower.com withpower.com/trial/phase-genetic-counseling-8-2022-930cc

Genetic Counseling Sequence for Heart Disease · Info ... This treatment is unique because it involves a structured sequence of genetic counseling sessions, including optional and required phone calls with a genetic ...

4. onlinelibrary.wiley.com onlinelibrary.wiley.com/doi/full/10.1002/jgc4.1651

Evaluating a communication aid for return of genetic results ... Effective pre-test and post-test genetic counseling is critical and recognized in disease guidelines, and focuses on clear communication of ...

5. gimjournal.org gimjournal.org/article/S1098-3600(21)04667-0/fulltext

Making pretest genomic counseling optional: lessons from ... To do so, call [telephone number] and ask to schedule a time to speak with a genetic counselor about the RAVE study. A total of 4,788 adults were invited to ...

6. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov/articles/PMC4199583/

Implementation and outcomes of telephone disclosure of ... Telephone disclosure of BRCA1/2 test results may not be associated with negative cognitive and affective responses among willing patients.

7. bmjopen.bmj.com bmjopen.bmj.com/content/bmjopen/14/4/e085472.full.pdf

Linking genetic counseling communication skills to patient ... The consent also asks participants whether they would like to opt into an optional follow- up phone or video call interview. Genetic counselor ...

8. onlinelibrary.wiley.com onlinelibrary.wiley.com/doi/full/10.1002/jgc4.1481

Telehealth for genetic counseling: A systematic evidence ... This systematic evidence review provides a comprehensive assessment of the existing literature on the effects of telehealth genetic counseling ...