eHealth Disclosure for Genetic Disorder Results

(ROR Trial)

Age: 18+

Sex: Any

Trial Phase: Academic

Sponsor: University of Pennsylvania

Disqualifiers: Deceased, Prior genetic result, others

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

Compensation: Varies

Number of Visits: 3

What You Need to Know Before You Apply

What is the purpose of this trial?

This trial tests the best methods for sharing genetic test results. It compares receiving results through a digital portal with assistance from a genetic counselor to speaking directly with a counselor. Participants will learn about their test results and decide whether to receive them. The trial seeks English-speaking adults from the Penn Medicine Biobank who have a genetic mutation that could affect health. Participants will help researchers determine if digital tools, such as the eHealth Education Intervention (Web or Chatbot), can effectively convey important health information. As an unphased trial, this study offers participants the opportunity to contribute to innovative communication methods for vital health information.

Will I have to stop taking my current medications?

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

What prior data suggests that these eHealth methods are safe for delivering genetic results?

Research shows that digital tools like chatbots and web portals generally provide a safe way to share genetic test results. These tools help users understand their genetic information effectively and without harm. Previous studies have shown that many participants successfully used these tools for training and follow-up, indicating they are well-received.

One study found that when using a chatbot to assess genetic cancer risk, many people completed the process without major reports of harm. Participants appreciated access to their genetic information, though some expressed privacy concerns. Overall, these digital tools are considered a safe method for sharing genetic results. ^{1 2 3 4 5}

Why are researchers excited about this trial?

Researchers are excited about this trial because it explores innovative ways to disclose genetic disorder results using eHealth tools. Unlike traditional methods that rely heavily on in-person consultations with genetic counselors, this trial investigates using a private web-portal and a chatbot for delivering results. These tech-driven methods could make the process more accessible and convenient for patients, potentially reaching more people and providing immediate support. By offering the option to speak with a genetic counselor through the portal, it combines the best of both digital and personal interaction, which could enhance patient understanding and satisfaction.

What evidence suggests that this trial's methods of delivering genetic research results could be effective?

Research shows that digital tools like chatbots and web portals can effectively share genetic research results. In this trial, participants in one arm will receive eHealth disclosure of results through a private web portal, with the option to speak with a genetic counselor. One study found that chatbots effectively deliver genetic screening information and can match the effectiveness of speaking with a genetic counselor. Another study found that web-based education did not lead to negative feedback from patients, making it a good option for sharing results. The private web portal method securely delivers important genetic results without major issues. Overall, these digital methods offer promising ways to communicate important genetic information effectively. ^{1 2 5 6 7}

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 English-speaking adults over 18 who are part of the Penn Medicine Biobank and have an actionable genetic mutation or are control participants. They must be willing to be re-contacted. Those already aware of their genetic results through clinical testing cannot join.

Inclusion Criteria

English speaking

I am open to future contact or wasn't asked about my preference.

Potential subjects will include select individuals who participated in Penn Medicine Biobank, Institutional Review Board (IRB) protocol number 813913

Exclusion Criteria

This criterion is not applicable to a living patient's perspective.

Evidence in the clinical record that the subject has already received the same actionable result through clinical genetic testing

Timeline for a Trial Participant

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Intervention

Participants receive genetic research results through either a genetic counselor or an eHealth portal

2-7 days

1 visit (virtual or in-person)

Follow-up

Participants are monitored for behavioral and psychological responses to the genetic information

6 months

Multiple assessments at baseline, 2-7 days, and 6 months

What Are the Treatments Tested in This Trial?

Interventions

• eHealth Education Intervention (Web or Chatbot)
• Private Web-Portal eHealth Disclosure of Genetic Results

Trial Overview The study compares two methods of delivering genetic research results: via a multimedia eHealth intervention (like a patient portal) or directly from a genetic counselor by phone/video. It will assess participant engagement with digital tools and willingness to learn about their genetics.

How Is the Trial Designed?

Group I: ROR Arm 2 Experimental Treatment 2 Interventions

eHealth disclosure of results by private web-portal (with option to speak with a GC).

Group II: ROR Arm 1 Experimental Treatment 1 Intervention

Disclosure of results with a Genetic Counselor.

Who Is Running the Clinical Trial?

University of Pennsylvania

Lead Sponsor

Trials

2,118

Recruited

45,270,000+

Abramson Cancer Center at Penn Medicine

Lead Sponsor

Trials

425

Recruited

464,000+

Thomas Jefferson University

Collaborator

Trials

475

Recruited

189,000+

Fox Chase Cancer Center

Collaborator

Trials

236

Recruited

39,300+

Columbia University

Collaborator

Trials

1,529

Recruited

2,832,000+

Published Research Related to This Trial

Participants in focus groups found chatbots to be an engaging and acceptable method for consenting to genomic research and managing follow-up actions after receiving genetic results, indicating potential for broader use in healthcare.

Despite limited prior experience with chatbots, most participants expressed willingness to use them for sharing genetic information with relatives, suggesting that these technology-based tools could effectively facilitate communication in genetic counseling.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Patient assessment of chatbots for the scalable delivery of genetic counseling. Schmidlen, T., Schwartz, M., DiLoreto, K., et al.[2020]

The eHealth intervention was delivered with high fidelity, with 93% of participants receiving initial training and 98.45% of expected follow-ups conducted, indicating strong program adherence.

Despite high engagement from 40.4% of users over 12 months, increased usage did not lead to significant improvements in clinical outcomes or lifestyle changes, suggesting that simply using the intervention more frequently does not guarantee better health results.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

An Internet-Based Intervention for Cardiovascular Disease Management Integrated With Primary Care Electronic Health Records: Mixed Methods Evaluation of Implementation Fidelity and User Engagement. Coorey, G., Peiris, D., Scaria, A., et al.[2021]

Computer-based patient education can provide personalized instruction that adapts to individual learning paces, which is crucial as healthcare becomes more patient-centered and hospital stays shorten.

This method not only helps in teaching patients about their health and treatment options but also tracks their understanding, which is important for informed consent and potential reimbursement, highlighting the need for more research in this area.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Computer-based patient education revisited. Gillispie, MA., Ellis, LB.[2019]

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]

Citations

1. withpower.com withpower.com/trial/phase-cardiovascular-diseases-9-2023-b75f8

eHealth Disclosure for Genetic Disorder Results (ROR Trial) The goal of this hybrid type 1 effectiveness-implementation study is to evaluate and compare different ways of delivering genetic research results to ...

2. clinicaltrials.gov clinicaltrials.gov/study/NCT06089954

Penn Medicine Biobank Return of Results Program The intervention involves delivering actionable genetic research results to participants via a secure, private web-portal.

3. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov/articles/PMC7891215/

Patient-Reported Outcomes and Experiences with ... Approximately half (47.0%) of participants reported that they were concerned somewhat or to a great extent about the privacy of their genetic test results.

4. nature.com nature.com/articles/s41436-020-01063-z

GUÍA: a digital platform to facilitate result disclosure in ... We developed GUÍA, a web-based application, to enhance the delivery of genomic results and related clinical information to patients and families.

5. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov/articles/PMC12417906/

An eHealth Delivery Alternative for Cancer Genetic Testing ... The goal of the eREACH study is to evaluate the effectiveness of replacing traditional pretest (visit 1—education and consent) and posttest (visit 2—disclosure) ...

6. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov/articles/PMC6616921/

Direct-to-Consumer Genetic Testing Data Privacy 83.2% of consumers felt it important that genetic information be kept private. 62.9% felt that genetic information should be included in the standard medical ...

7. sciencedirect.com sciencedirect.com/science/article/pii/S1098360021007255

The interface of genomic information with the electronic ... The direct and immediate access to genomic test results via an EHR portal by patients and parents supports autonomy but may result in emotional distress due to ...