eHealth Genetic Testing for Cancer

(eReach2 Trial)

Overseen By Dominique Fetzer, BA

Age: 18+

Sex: Any

Trial Phase: Academic

Sponsor: Abramson Cancer Center at Penn Medicine

Disqualifiers: Hearing impairment, Vision impairment, Psychiatric condition, others

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

Approved in 1 Jurisdiction This treatment is already approved in other countries

Compensation: Varies

Number of Visits: 2

1000 Participants Needed

Trial Summary

What is the purpose of this trial?

This randomized non-inferiority study will use a 2x2 design where traditional standard-of-care pre-test (visit 1) and post-test (visit 2: disclosure) counseling delivered by a genetic counselor are replaced with a self-directed web-based eHealth intervention to provide critical data to inform optimal ways to deliver clinical genetic testing in eligible individuals, while maintaining quality of care and favorable cognitive, affective and behavioral outcomes.

Do I need to stop my current medications for this trial?

The trial information does not specify whether you need to stop taking your current medications.

What data supports the effectiveness of the treatment eHealth Delivery Alternative, Web-Based Genetic Counseling, Online Genetic Testing Platform for cancer?

Research shows that online genetic counseling and digital tools for genetic services can improve patient satisfaction, knowledge, and engagement, while also making the process more efficient for healthcare providers. These tools have been successfully used in various genetic counseling settings, suggesting they could be effective for cancer-related genetic testing as well. ^{1 2 3 4 5}

Is eHealth Genetic Testing for Cancer safe for humans?

The research suggests that digital and web-based genetic counseling tools, like eHealth Genetic Testing, are generally safe for humans. They focus on making complex information easy to understand and ensuring user privacy, but more studies are needed to fully understand their psychosocial and behavioral impacts. ^{3 6 7 8 9}

How is the eHealth Delivery Alternative treatment for cancer genetic testing different from other treatments?

The eHealth Delivery Alternative treatment is unique because it uses an online platform for genetic counseling and testing, which can improve access for patients who face barriers like geographic distance or limited availability of genetic counselors. This approach can be more convenient and efficient compared to traditional in-person genetic counseling sessions. ^{1 10 11 12 13}

Research Team

Angela Bradbury, MD

Principal Investigator

University of Pennsylvania

Eligibility Criteria

This trial is for adults who speak English and meet the guidelines for genetic testing due to cancer risk, but haven't had germline genetic testing before. It's not suitable for those with uncontrolled mental conditions or severe physical impairments that affect communication or understanding of the study.

Inclusion Criteria

I am 18 years old or older.

I qualify for genetic testing based on national cancer guidelines.

I am either male or female.

Exclusion Criteria

Communication difficulties such as uncorrected or uncompensated speech defects

I do not have severe mental, physical, or cognitive issues that prevent me from understanding this study.

Communication difficulties such as uncorrected or uncompensated hearing and/or vision impairment

Timeline

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Pre-Test Counseling

Participants receive either standard-of-care pre-test counseling with a genetic counselor or a self-directed web-based eHealth pre-test session

1 session

1 visit (in-person or virtual)

Post-Test Counseling

Participants receive either standard-of-care post-test counseling with a genetic counselor or a self-directed web-based eHealth result disclosure session

1 session

1 visit (in-person or virtual)

Follow-up

Participants are monitored for cognitive, affective, and behavioral outcomes after the intervention

1 year

Treatment Details

Interventions

• eHealth Delivery Alternative

Trial Overview The study tests if web-based eHealth interventions can replace traditional in-person counseling by a genetic counselor without compromising care quality. Participants are randomly assigned to either standard care or self-directed online sessions before and after genetic testing.

Participant Groups

Group I: ARM D Experimental Treatment 2 Interventions

Visit 1/Pre-Test Session - Self-directed web-based eHealth pre-test session intervention. Visit 2/Disclosure Session - Self-directed web-based eHealth result disclosure intervention.

Group II: ARM C Experimental Treatment 2 Interventions

Visit 1/Pre-Test Session - Self-directed web-based eHealth pre-test session intervention. Visit 2/Disclosure Session - Standard-of-Care Post-Test Counseling with a genetic counselor.

Group III: ARM B Experimental Treatment 2 Interventions

Visit 1/Pre-Test Session - Standard-of-Care Pre-Test Counseling with a genetic counselor. Visit 2/Disclosure Session - Self-directed web-based eHealth result disclosure intervention.

Group IV: ARM A Experimental Treatment 1 Intervention

Visit 1/Pre-Test Session - Standard-of-Care Pre-Test Counseling with a genetic counselor. Visit 2/Disclosure Session - Standard-of-Care Post-Test Counseling with a genetic counselor.

eHealth Delivery Alternative is already approved in United States for the following indications:

Approved in United States as eHealth Delivery Alternative for:

• Genetic testing for hereditary cancer risk in individuals with breast, ovarian, pancreatic, and prostate cancer

Who Is Running the Clinical Trial?

Abramson Cancer Center at Penn Medicine

Lead Sponsor

Trials

425

Recruited

464,000+

Abramson Cancer Center of the University of Pennsylvania

Lead Sponsor

Trials

360

Recruited

108,000+

National Cancer Institute (NCI)

Collaborator

Trials

14,080

Recruited

41,180,000+

Fox Chase Cancer Center

Collaborator

Trials

236

Recruited

39,300+

Findings from Research

In a study involving 147 participants, telehealth services significantly increased the uptake of genetic counseling and testing in oncology practices without genetic counselors, with 80% of telehealth participants receiving services compared to only 16% in usual care.

Telehealth not only improved access to genetic services but also led to the identification of 5 genetic mutation carriers (6.7%) in the telehealth group, highlighting its potential to enhance cancer prevention outcomes.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Randomized study of remote telehealth genetic services versus usual care in oncology practices without genetic counselors. Cacioppo, CN., Egleston, BL., Fetzer, D., et al.[2021]

A pilot study involving 57 presymptomatic patients showed that online genetic counseling is feasible and well-received, with one-third of approached patients consenting to participate.

Patients reported higher satisfaction with their online counseling sessions compared to a matched control group, although psychological outcomes like anxiety did not significantly differ from controls, indicating that while online counseling is effective, technical issues were a challenge in nearly half of the sessions.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Telegenetics use in presymptomatic genetic counselling: patient evaluations on satisfaction and quality of care. Otten, E., Birnie, E., Ranchor, AV., et al.[2018]

Remotely delivered genetic counseling via telephone or telemedicine is as effective as in-person counseling in terms of patients' knowledge, anxiety, and satisfaction, making it a viable option for those at high risk for hereditary breast and ovarian cancer.

While in-person counseling resulted in higher genetic testing rates, remote counseling offers greater convenience and lower costs, highlighting the need for innovative delivery models to improve access to genetic services, especially in rural areas.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Comparing Outcomes of Genetic Counseling Options in Breast and Ovarian Cancer: An Integrative Review . Fournier, DM., Bazzell, AF., Dains, JE.[2018]

A systematic review of 87 studies found that 84% reported positive outcomes for patients using digital genetics tools, enhancing knowledge, psychosocial well-being, and engagement in genetic service delivery.

Digital tools not only improved patient outcomes but also increased workflow efficiency for healthcare providers, suggesting they can effectively support patient-centered care in the growing demand for genetic services.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Patient-facing digital tools for delivering genetic services: a systematic review. Whiwon, L., Salma, S., Daniel, A., et al.[2023]

Telegenetics, a telehealth tool for online genetic counseling, is gaining popularity as it improves access to genetic services, especially in remote areas, and addresses the shortage of clinical geneticists.

Live videoconference consultations in telegenetics are well accepted by both patients and clinicians, suggesting that this method can effectively meet the growing demand for personalized genomic medicine.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Telegenetics: an Update on Availability and Use of Telemedicine in Clinical Genetics Service. Vrečar, I., Hristovski, D., Peterlin, B.[2018]

iKNOW is the first evidence-based digital tool designed to provide personalized counseling for women in Germany with hereditary cancer risks, specifically targeting those with pathogenic gBRCA variants that increase breast and ovarian cancer risks.

The tool is built on five key design principles aimed at standardizing and personalizing the counseling process, ensuring data privacy, and facilitating user-friendly access to complex information, which could serve as a model for future digital innovations in personalized cancer medicine.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Paradigmatic Approach to Support Personalized Counseling With Digital Health (iKNOW). Speiser, D., Heibges, M., Besch, L., et al.[2023]

There is a growing demand for breast cancer risk assessment due to increased awareness of genetic factors, highlighting the need for effective communication methods for conveying complex genetic information to consumers and their families.

Research is needed to evaluate the psychosocial and behavioral outcomes of web- and telephone-based genetic services, especially regarding how to communicate risks to at-risk relatives, including minors, to ensure effective risk management and support for those affected.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Controversies in communication of genetic risk for hereditary breast cancer. Mackenzie, A., Patrick-Miller, L., Bradbury, AR.[2022]

A scoping review of 79 studies identified seven alternative models of genetic counseling and testing for hereditary cancer, which may provide acceptable outcomes in terms of patient knowledge, satisfaction, and testing uptake compared to traditional methods.

While alternative models like telephone and telegenic counseling can be effective, certain populations may still benefit more from traditional in-person genetic counseling, highlighting the need for tailored approaches in genetic service delivery.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Next-Generation Service Delivery: A Scoping Review of Patient Outcomes Associated with Alternative Models of Genetic Counseling and Genetic Testing for Hereditary Cancer. McCuaig, JM., Armel, SR., Care, M., et al.[2020]

Implementing an automated hereditary cancer screening program using tumor-based DNA sequencing can effectively identify patients with hereditary cancer, providing an additional diagnostic strategy beyond traditional genetic counseling based on personal or family history.

Patients identified through the tumor DNA safety net were less likely to meet the National Comprehensive Cancer Network (NCCN) criteria for genetic testing compared to those who underwent traditional counseling, highlighting the program's ability to uncover hereditary risks in a broader patient population.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Next-generation universal hereditary cancer screening: implementation of an automated hereditary cancer screening program for patients with advanced cancer undergoing tumor sequencing in a large HMO. Hoffman, TL., Kershberg, H., Goff, J., et al.[2023]

In-person genetic counseling (GC) may not always be the most effective or accessible option for patients, especially given the increasing demand for genetic testing and limited availability of genetic counselors.

A review of 21 studies on interactive e-learning and decision support tools found that these e-tools can enhance knowledge and comfort in decision-making for patients, suggesting they could effectively supplement traditional GC methods.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Interactive e-counselling for genetics pre-test decisions: where are we now? Birch, PH.[2022]

A quality improvement project involving 112 patients showed that group pre-test genetic counseling followed by a brief individual session was well-received, with 58 out of 60 participants feeling comfortable and satisfied with the model.

This approach not only increased patient satisfaction but also significantly reduced the wait time for genetic counseling by 12 months, indicating its potential as an effective alternative to traditional one-on-one counseling.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Group plus "mini" individual pre-test genetic counselling sessions for hereditary cancer shorten provider time and improve patient satisfaction. Hynes, J., MacMillan, A., Fernandez, S., et al.[2022]

Genetic counseling and testing are crucial for cancer patients, as they can influence treatment decisions and help identify individuals at risk before a cancer diagnosis, allowing for better surveillance and prevention.

With up to 10% of cancers being hereditary, there is a pressing need to enhance access to genetic services, especially in underserved communities, through innovative models like telehealth and collaboration with non-genetics healthcare providers.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Genetic Counseling and Testing in a Community Setting: Quality, Access, and Efficiency. Cohen, SA., Bradbury, A., Henderson, V., et al.[2019]

A clinical trial involving 988 women at risk for BRCA1/2 mutations found that telephone counseling resulted in a lower uptake of genetic testing (21.8%) compared to in-person counseling (31.8%), indicating a 10.2% difference in favor of in-person methods.

Despite the lower testing uptake, telephone counseling was deemed noninferior in terms of psychosocial outcomes, effectively minimizing adverse psychological reactions and supporting informed decision-making, making it a safe alternative for women in both rural and urban settings.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Expanding access to BRCA1/2 genetic counseling with telephone delivery: a cluster randomized trial. Kinney, AY., Butler, KM., Schwartz, MD., et al.[2022]

References

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

Randomized study of remote telehealth genetic services versus usual care in oncology practices without genetic counselors. [2021]

2. England pubmed.ncbi.nlm.nih.gov

Telegenetics use in presymptomatic genetic counselling: patient evaluations on satisfaction and quality of care. [2018]

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

Comparing Outcomes of Genetic Counseling Options in Breast and Ovarian Cancer: An Integrative Review . [2018]

4. England pubmed.ncbi.nlm.nih.gov

Patient-facing digital tools for delivering genetic services: a systematic review. [2023]

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

Telegenetics: an Update on Availability and Use of Telemedicine in Clinical Genetics Service. [2018]

6. Canada pubmed.ncbi.nlm.nih.gov

Paradigmatic Approach to Support Personalized Counseling With Digital Health (iKNOW). [2023]

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

Controversies in communication of genetic risk for hereditary breast cancer. [2022]

8. Switzerland pubmed.ncbi.nlm.nih.gov

Next-Generation Service Delivery: A Scoping Review of Patient Outcomes Associated with Alternative Models of Genetic Counseling and Genetic Testing for Hereditary Cancer. [2020]

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

Next-generation universal hereditary cancer screening: implementation of an automated hereditary cancer screening program for patients with advanced cancer undergoing tumor sequencing in a large HMO. [2023]

10. Denmark pubmed.ncbi.nlm.nih.gov

Interactive e-counselling for genetics pre-test decisions: where are we now? [2022]

11. Poland pubmed.ncbi.nlm.nih.gov

Group plus "mini" individual pre-test genetic counselling sessions for hereditary cancer shorten provider time and improve patient satisfaction. [2022]

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

Genetic Counseling and Testing in a Community Setting: Quality, Access, and Efficiency. [2019]

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

Expanding access to BRCA1/2 genetic counseling with telephone delivery: a cluster randomized trial. [2022]