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Penn Medicine Biobank Return of Results Program (ROR)

Primary Purpose

Genetic Disease, Cancer, Cardiovascular Diseases

Status
Enrolling by invitation
Phase
Not Applicable
Locations
United States
Study Type
Interventional
Intervention
private web-portal eHealth disclosure of genetic results
eHealth education intervention (web or chatbot)
Sponsored by
University of Pennsylvania
About
Eligibility
Locations
Arms
Outcomes
Full info

About this trial

This is an interventional health services research trial for Genetic Disease focused on measuring Genetic counseling, Return of research results, Genetic testing

Eligibility Criteria

18 Years - undefined (Adult, Older Adult)All SexesDoes not accept healthy volunteers

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

Sites / Locations

  • University of Pennsylvania

Arms of the Study

Arm 1

Arm 2

Arm Type

Other

Experimental

Arm Label

ROR Arm 1

ROR Arm 2

Arm Description

Disclosure of results with a Genetic Counselor.

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

Outcomes

Primary Outcome Measures

Understanding of Genetic Information
Will be evaluated using an adapted version of the Know Gene Scale, a 16-item assessment administered to patients after genetic testing and/or genetic counseling to measure their understanding of the health implications of genetic testing results. The scale uses three responses, Agree, Disagree, and Don't Know, as response to a statement about genetics. Final scores range from 0-16, with a higher score indicating a better outcome for knowledge.
Reactions to Genomic Information
Will be measured using an 8-item version of the Revised Impact of Events Scale (RIES). The RIES has been utilized to assess response to disease-related stressors, such as being at genetic risk. The scale uses a minimum of 0 to maximum of 5 to rate each item. Final total scores range from 0 to 40, with higher scores meaning a worse outcome.
Behavioral Use of Genomic Information
Risk-reducing behaviors intention and performance will be assessed with close-ended and open-ended items depending on the specific gene. General health status and risk modifying behaviors will also be assessed.

Secondary Outcome Measures

Perceptions of genetic disease
Perceived risk of cancer or cardiovascular disease will be measured utilizing 2 items. The first item will use a verbal scale with a minimum value of "much lower" to maximum value of "much higher" to measure perceived risk of disease in comparison to general population risk. The second item will assess overall perception of risk utilizing a scale from 0% (minimum) to 100% (maximum) lifetime risk for the disease. Higher values indicate a higher level of perceived risk of disease.
General anxiety and depression
Will be evaluated utilizing the 4-item NIH Patient-Reported Outcomes Measurement Information System (PROMIS) depression measure and the 4-item NIH PROMIS anxiety measure. The PROMIS depression and anxiety measures each have a minimum score of 4 and a maximum score of 20, with higher scores meaning a worse outcome.
Multidimensional response to testing
Evaluation of distress, uncertainty, and positive responses measured using 20 items from the Multi-dimensional Impact of Cancer Risk Assessment Questionnaire (MICRA). The scale uses a minimum value of 0 (Never) to maximum value of 5 (Often) for each item. Final total scores can range from 0 to 100, with higher scores meaning a worse outcome.
Decisional regret (aim 1)
Will be evaluated utilizing the 5-item validated Decisional Regret Scale. The scale uses a minimum value of 1 (Strongly Agree) to maximum value of 5 (Strongly Disagree) for each item. Final total global scores range from 0 (no regret) to 100 (high regret).
Communication Intention
3 items evaluating intent to communicate genetic test results with health care providers, family members and other third parties
Communication to others
3 items to evaluate actual communication of genetic test results to health care providers, family members, and other third parties

Full Information

First Posted
August 21, 2023
Last Updated
October 18, 2023
Sponsor
University of Pennsylvania
Collaborators
Fox Chase Cancer Center, Columbia University, Thomas Jefferson University
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1. Study Identification

Unique Protocol Identification Number
NCT06089954
Brief Title
Penn Medicine Biobank Return of Results Program
Acronym
ROR
Official Title
A Randomized Study of Web Versus Genetic Counselor Return of Actionable Genetic Research Results to Biobank Participants
Study Type
Interventional

2. Study Status

Record Verification Date
October 2023
Overall Recruitment Status
Enrolling by invitation
Study Start Date
October 20, 2023 (Anticipated)
Primary Completion Date
August 1, 2024 (Anticipated)
Study Completion Date
April 1, 2025 (Anticipated)

3. Sponsor/Collaborators

Responsible Party, by Official Title
Sponsor
Name of the Sponsor
University of Pennsylvania
Collaborators
Fox Chase Cancer Center, Columbia University, Thomas Jefferson University

4. Oversight

Studies a U.S. FDA-regulated Drug Product
No
Studies a U.S. FDA-regulated Device Product
No
Data Monitoring Committee
Yes

5. Study Description

Brief Summary
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
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.

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Genetic Disease, Cancer, Cardiovascular Diseases
Keywords
Genetic counseling, Return of research results, Genetic testing

7. Study Design

Primary Purpose
Health Services Research
Study Phase
Not Applicable
Interventional Study Model
Parallel Assignment
Model Description
Randomized non-inferiority trial
Masking
None (Open Label)
Allocation
Randomized
Enrollment
2500 (Anticipated)

8. Arms, Groups, and Interventions

Arm Title
ROR Arm 1
Arm Type
Other
Arm Description
Disclosure of results with a Genetic Counselor.
Arm Title
ROR Arm 2
Arm Type
Experimental
Arm Description
eHealth disclosure of results by private web-portal (with option to speak with a GC).
Intervention Type
Other
Intervention Name(s)
private web-portal eHealth disclosure of genetic results
Intervention Description
The intervention involves delivering actionable genetic research results to participants via a secure, private web-portal.
Intervention Type
Other
Intervention Name(s)
eHealth education intervention (web or chatbot)
Intervention Description
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.
Primary Outcome Measure Information:
Title
Understanding of Genetic Information
Description
Will be evaluated using an adapted version of the Know Gene Scale, a 16-item assessment administered to patients after genetic testing and/or genetic counseling to measure their understanding of the health implications of genetic testing results. The scale uses three responses, Agree, Disagree, and Don't Know, as response to a statement about genetics. Final scores range from 0-16, with a higher score indicating a better outcome for knowledge.
Time Frame
at baseline, and at 2-7 days and 6 months after disclosure of research results
Title
Reactions to Genomic Information
Description
Will be measured using an 8-item version of the Revised Impact of Events Scale (RIES). The RIES has been utilized to assess response to disease-related stressors, such as being at genetic risk. The scale uses a minimum of 0 to maximum of 5 to rate each item. Final total scores range from 0 to 40, with higher scores meaning a worse outcome.
Time Frame
at baseline, and at 2-7 days and 6 months after disclosure of research results
Title
Behavioral Use of Genomic Information
Description
Risk-reducing behaviors intention and performance will be assessed with close-ended and open-ended items depending on the specific gene. General health status and risk modifying behaviors will also be assessed.
Time Frame
at baseline, and at 2-7 days and 6 months after disclosure of research results
Secondary Outcome Measure Information:
Title
Perceptions of genetic disease
Description
Perceived risk of cancer or cardiovascular disease will be measured utilizing 2 items. The first item will use a verbal scale with a minimum value of "much lower" to maximum value of "much higher" to measure perceived risk of disease in comparison to general population risk. The second item will assess overall perception of risk utilizing a scale from 0% (minimum) to 100% (maximum) lifetime risk for the disease. Higher values indicate a higher level of perceived risk of disease.
Time Frame
at baseline, and at 2-7 days and 6 months after disclosure of research results
Title
General anxiety and depression
Description
Will be evaluated utilizing the 4-item NIH Patient-Reported Outcomes Measurement Information System (PROMIS) depression measure and the 4-item NIH PROMIS anxiety measure. The PROMIS depression and anxiety measures each have a minimum score of 4 and a maximum score of 20, with higher scores meaning a worse outcome.
Time Frame
at baseline, and at 2-7 days and 6 months after disclosure of research results
Title
Multidimensional response to testing
Description
Evaluation of distress, uncertainty, and positive responses measured using 20 items from the Multi-dimensional Impact of Cancer Risk Assessment Questionnaire (MICRA). The scale uses a minimum value of 0 (Never) to maximum value of 5 (Often) for each item. Final total scores can range from 0 to 100, with higher scores meaning a worse outcome.
Time Frame
2-7 days and 6 months after disclosure of research results
Title
Decisional regret (aim 1)
Description
Will be evaluated utilizing the 5-item validated Decisional Regret Scale. The scale uses a minimum value of 1 (Strongly Agree) to maximum value of 5 (Strongly Disagree) for each item. Final total global scores range from 0 (no regret) to 100 (high regret).
Time Frame
at 2-7 days and 6 months after return of results
Title
Communication Intention
Description
3 items evaluating intent to communicate genetic test results with health care providers, family members and other third parties
Time Frame
at 2-7 days after return of results
Title
Communication to others
Description
3 items to evaluate actual communication of genetic test results to health care providers, family members, and other third parties
Time Frame
at 6 months after return of results

10. Eligibility

Sex
All
Minimum Age & Unit of Time
18 Years
Accepts Healthy Volunteers
No
Eligibility Criteria
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
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Angela Bradbury, MD
Organizational Affiliation
University of Pennsylvania
Official's Role
Principal Investigator
Facility Information:
Facility Name
University of Pennsylvania
City
Philadelphia
State/Province
Pennsylvania
ZIP/Postal Code
19104
Country
United States

12. IPD Sharing Statement

Plan to Share IPD
No
IPD Sharing Plan Description
We will adhere to the NIH Grant Policy on Sharing of Unique Research Resources including the Sharing of Biomedical Research Resources Principles and Guidelines for Recipients of NIH Grants and Contracts. Any unique resources developed as a result of this grant, will be made available immediately after publication. We will consider requests for individual participant data, contingent upon signing a Data Use Agreement.

Learn more about this trial

Penn Medicine Biobank Return of Results Program

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