Penn Medicine Biobank Return of Results Program

NCT ID: NCT06089954

Last Updated: 2025-07-29

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

ENROLLING_BY_INVITATION

Clinical Phase

NA

Total Enrollment

2500 participants

Study Classification

INTERVENTIONAL

Study Start Date

2023-10-20

Study Completion Date

2026-03-31

Brief Summary

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The goal of this hybrid type 1 effectiveness-implementation study is to evaluate and compare different ways of delivering genetic research results to participants. The main questions the study aims to answer are:

* Is sharing actionable genetic research results with participants through a multimedia patient-informed eHealth intervention (e.g. patient portal) no worse than sharing results by telephone or videoconference with a genetic counselor?
* Will research participants access an eHealth educational intervention or chatbot education to learn about research results being offered and the option to decline learning their individual research results and how frequently participants choose to decline actionable research results?
* Who benefits less and more from digital intervention with return of actionable research results and what barriers exist to using these tools for return of research results outside this study?

Participants in the biobank will be offered digital tools to learn about research results being offered and the option to decline receiving these results. Those who don't decline and have an actionable result will be randomly assigned to receive their results with a genetic counselor or through an eHealth portal. Participants will complete surveys before and after receipt of results to understand patient experiences with these methods of education and return of results to determine if digital tools can be used to help ensure more patients get access to research results which could impact their health.

Detailed Description

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The scientific aims of the study are:

Aim 1 (Effectiveness of eHealth return of results): To evaluate in a randomized study whether disclosure of actionable genetic results by an eHealth intervention (eHealthROR) provides non-inferior short-term and longitudinal outcomes (knowledge, psychological distress, health and psychosocial behaviors and costs) compared to phone disclosure by a GC (e.g. usual care).

Aim 2 (eHealth education and assessing preferences): To evaluate: a) the uptake of supplemental eHealth (eHealthED) and chatbot education (chatED) among 1250 Penn Biobank research participants notified of the option to opt-out of receipt of actionable genetic research results; b) the frequency of opting-out of receipt of actionable genetic research results; and c) the impact of eHealthED/chatED use on opting out of receipt of results.

Aim 3 (Implementation): To conduct a multi-stakeholder mixed-methods process evaluation, to understand: a) potential moderators (e.g. intervention usage, sociodemographic factors, genetic test result) of short-term and longitudinal outcomes to understand who benefits more or less from eHealth/chatbot education and eHealth return of result; and b) facilitators and barriers to implementation of eHealth/chatbot interventions for return of actionable genetic research results and recommendations for future adaptation and sustainability.

Conditions

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Genetic Disease Cancer Cardiovascular Diseases

Study Design

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Allocation Method

RANDOMIZED

Intervention Model

PARALLEL

Randomized non-inferiority trial
Primary Study Purpose

HEALTH_SERVICES_RESEARCH

Blinding Strategy

NONE

Study Groups

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ROR Arm 1

Disclosure of results with a Genetic Counselor.

Group Type OTHER

eHealth education intervention (web or chatbot)

Intervention Type OTHER

The intervention involves pre-disclosure education via an eHealth intervention (web or chatbot). The intervention will review the types of actionable results being returned, the method of return, the differences between research and clinical testing, the need for confirmation testing and the benefits, risks and limitations of receiving actionable genetic research results and study steps and procedures.

ROR Arm 2

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

Group Type EXPERIMENTAL

private web-portal eHealth disclosure of genetic results

Intervention Type OTHER

The intervention involves delivering actionable genetic research results to participants via a secure, private web-portal.

eHealth education intervention (web or chatbot)

Intervention Type OTHER

The intervention involves pre-disclosure education via an eHealth intervention (web or chatbot). The intervention will review the types of actionable results being returned, the method of return, the differences between research and clinical testing, the need for confirmation testing and the benefits, risks and limitations of receiving actionable genetic research results and study steps and procedures.

Interventions

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private web-portal eHealth disclosure of genetic results

The intervention involves delivering actionable genetic research results to participants via a secure, private web-portal.

Intervention Type OTHER

eHealth education intervention (web or chatbot)

The intervention involves pre-disclosure education via an eHealth intervention (web or chatbot). The intervention will review the types of actionable results being returned, the method of return, the differences between research and clinical testing, the need for confirmation testing and the benefits, risks and limitations of receiving actionable genetic research results and study steps and procedures.

Intervention Type OTHER

Eligibility Criteria

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Inclusion Criteria

* Potential subjects will include select individuals who participated in Penn Medicine Biobank, Institutional Review Board (IRB) protocol number 813913.
* English speaking
* Age 18 years or older
* Have an actionable genetic mutation (See Appendix A) or have been selected as a control participant
* Agreed to be re-contacted in the future or were not provided the opportunity to indicate a preference

Exclusion Criteria

* Deceased assessed by electronic medical record, death index or identified after contact
* Evidence in the clinical record that the subject has already received the same actionable result through clinical genetic testing
Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Fox Chase Cancer Center

OTHER

Sponsor Role collaborator

Columbia University

OTHER

Sponsor Role collaborator

Thomas Jefferson University

OTHER

Sponsor Role collaborator

Abramson Cancer Center at Penn Medicine

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Angela Bradbury, MD

Role: PRINCIPAL_INVESTIGATOR

University of Pennsylvania

Locations

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University of Pennsylvania

Philadelphia, Pennsylvania, United States

Site Status

Countries

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United States

Other Identifiers

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853617

Identifier Type: OTHER

Identifier Source: secondary_id

UPCC 10023

Identifier Type: -

Identifier Source: org_study_id

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