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

What You Need to Know Before You Apply

What is the purpose of this trial?

This trial explores a new method for delivering genetic testing for cancer. Instead of meeting with a genetic counselor, some participants will use a self-directed online tool, the eHealth Delivery Alternative, to receive their results and counseling. The study aims to determine if this digital approach matches the effectiveness of traditional counseling. Individuals who have not undergone genetic testing and meet specific cancer risk guidelines are suitable candidates. As an unphased trial, this study allows participants to contribute to innovative research that could transform access to genetic testing.

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 prior data suggests that this eHealth Delivery Alternative is safe for genetic testing?

Research has shown that digital tools for genetic counseling, such as the eHealth Genetic Testing system, are generally safe for people. Studies suggest these tools offer a safe alternative to traditional counseling by delivering information clearly, reducing confusion or stress. Although specific details on negative effects are not provided, participants generally consider the overall method safe and well-received. ^{1 2 3 4 5}

Why are researchers excited about this trial?

Researchers are excited about this trial because it explores innovative methods for delivering genetic testing results for cancer patients. Traditional methods rely solely on in-person counseling with genetic counselors, which can be time-consuming and less accessible for some patients. This trial introduces self-directed, web-based eHealth interventions, offering a flexible, potentially more convenient alternative. By comparing different combinations of eHealth and standard care, researchers hope to find out if these new methods can improve accessibility and patient experience without compromising the quality of information and support.

What evidence suggests that this trial's eHealth interventions could be effective for genetic testing in cancer?

Research has shown that online health services can be as effective as in-person meetings with genetic counselors for cancer genetic testing. In this trial, participants will experience different combinations of these approaches. Some will use self-guided web programs, which studies have found can provide the same care and support as face-to-face sessions. For instance, the eREACH study tested this online approach and found it maintained high-quality care. This method allows people to access genetic testing information independently and can be just as reliable. Overall, early evidence suggests that online health tools are promising alternatives for delivering genetic testing results. ^{1 2 3 4 6}

Who Is on the Research Team?

Angela Bradbury, MD

Principal Investigator

University of Pennsylvania

Are You a Good Fit for This Trial?

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 qualify for genetic testing based on national cancer guidelines.

I am either male or female.

I have not had genetic testing for inherited conditions.

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 for a Trial Participant

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

What Are the Treatments Tested in This Trial?

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.

How Is the Trial Designed?

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+

Published Research Related to This Trial

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]

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]

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]

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 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]

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]

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]

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]

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]

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 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]

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]

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]

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eHealth Genetic Testing for Cancer (eReach2 Trial)

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