Genetic DiseaseRORNCT06089954
Penn Medicine Biobank Return of Results Program
A study testing private web-portal eHealth disclosure of genetic results and eHealth education intervention (web or chatbot) in people with Genetic Disease and Cancer, run by Abramson Cancer Center at Penn Medicine at 1 site in United States.
Trial 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… Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Genetic Disease, Cancer, Cardiovascular Diseases
- What is being tested?
- private web-portal eHealth disclosure of genetic results and eHealth education intervention (web or chatbot)
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 2,500 participants
- Where
- 1 siteUnited States
- Study dates
- 20 Oct 2023to 31 Mar 2027
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- 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
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country.
United States1 site
University of Pennsylvania
Philadelphia, Pennsylvania, 19104
About this study
Official title: A Randomized Study of Web Versus Genetic Counselor Return of Actionable Genetic Research Results to Biobank Participants
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.
Read the 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.
- Conditions
- Genetic Disease, Cancer, Cardiovascular Diseases
- Being tested
- private web-portal eHealth disclosure of genetic results, eHealth education intervention (web or chatbot)
- Keywords
- Genetic counseling, Return of research results, Genetic testing
- Medical subject headings
- Genetic Diseases, Inborn, Neoplasms, Cardiovascular Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
private web-portal eHealth disclosure of genetic resultsOther
The intervention involves delivering actionable genetic research results to participants via a secure, private web-portal.
eHealth education intervention (web or chatbot)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.
| Study group | Role | What they receive |
|---|---|---|
| ROR Arm 1 | Other | Disclosure of results with a Genetic Counselor. Receives: Other: eHealth education intervention (web or chatbot) |
| ROR Arm 2 | Experimental | eHealth disclosure of results by private web-portal (with option to speak with a GC). Receives: Other: private web-portal eHealth disclosure of genetic results; Other: eHealth education intervention (web or chatbot) |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: at baseline, and at 2-7 days and 6 months after disclosure of research results
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.
Measured: at baseline, and at 2-7 days and 6 months after disclosure of research results
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.
Measured: at baseline, and at 2-7 days and 6 months after disclosure of research results
Secondary outcomes (6)
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.
Measured: at baseline, and at 2-7 days and 6 months after disclosure of research results
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.
Measured: at baseline, and at 2-7 days and 6 months after disclosure of research results
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.
Measured: 2-7 days and 6 months after disclosure of research results
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).
Measured: at 2-7 days and 6 months after return of results
Communication Intention
3 items evaluating intent to communicate genetic test results with health care providers, family members and other third parties
Measured: at 2-7 days after return of results
Communication to others
3 items to evaluate actual communication of genetic test results to health care providers, family members, and other third parties
Measured: at 6 months after return of results
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted19 Oct 2023
- Study start20 Oct 2023
- Primary completion22 Oct 2026 (estimated)
- Study completion31 Mar 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Genetic DiseaseStudies of the same condition, open and under way.
- More trials run by Abramson Cancer Center at Penn MedicineThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Health services research
- Allocation
- Randomised
- Intervention model
- Parallel groups
- Model description
- Randomized non-inferiority trial
- Masking
- None (open label)
- Enrolment
- 2,500 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Abramson Cancer Center at Penn Medicine
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Angela Bradbury, MD, Principal investigator, University of Pennsylvania
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06089954
- Sponsor's protocol ID
- UPCC 10023
- Other IDs
- 853617
- Acronym
- ROR
- Status last verified
- Sep 2026
- First submitted
- 21 Aug 2023
- Last updated
- 2 Oct 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No: 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.
Study at a glance
From the registry record, last updated by the sponsor on 2 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Randomized Study of Web Versus Genetic Counselor Return of Actionable Genetic Research Results to Biobank Participants
- ClinicalTrials.gov ID
- NCT06089954
- Acronym / sponsor ID
- ROR / UPCC 10023
- Conditions
- Genetic Disease, Cancer, Cardiovascular Diseases
- Keywords
- Genetic counseling, Return of research results, Genetic testing
- Study type
- Interventional
- Recruitment status
- Active, not recruiting
- Enrolment
- 2,500 participants (estimated)
- Lead sponsor
- Abramson Cancer Center at Penn MedicineUniversity, hospital or other
- Collaborators
- Fox Chase Cancer Center, Columbia University, Thomas Jefferson University
- Study start
- 20 Oct 2023 (actual)
- Primary completion
- 22 Oct 2026 (estimated)
- Study completion
- 31 Mar 2027 (estimated)
- First posted
- 19 Oct 2023 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Primary purpose
- Health services research
- Allocation
- Randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Number of arms
- 2
- Model description
- Randomized non-inferiority trial
| Arm | Type | Receives |
|---|---|---|
| ROR Arm 1 | Other | Other: eHealth education intervention (web or chatbot)Disclosure of results with a Genetic Counselor. |
| ROR Arm 2 | Experimental | Other: private web-portal eHealth disclosure of genetic results, Other: eHealth education intervention (web or chatbot)eHealth disclosure of results by private web-portal (with option to speak with a GC). |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (5 listed)
- 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
Key exclusion criteria (2 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| private web-portal eHealth disclosure of genetic resultsThe intervention involves delivering actionable genetic research results to participants via a secure, private web-portal. | Other | ROR Arm 2 |
| 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. | Other | ROR Arm 1, ROR Arm 2 |
Primary outcome
Understanding of Genetic Information
Time frame: at baseline, and at 2-7 days and 6 months after disclosure of research results
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
Time frame: at baseline, and at 2-7 days and 6 months after disclosure of research results
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
Time frame: at baseline, and at 2-7 days and 6 months after disclosure of research results
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.
6 secondary outcomes
Perceptions of genetic disease
Time frame: at baseline, and at 2-7 days and 6 months after disclosure of research results
General anxiety and depression
Time frame: at baseline, and at 2-7 days and 6 months after disclosure of research results
Multidimensional response to testing
Time frame: 2-7 days and 6 months after disclosure of research results
Decisional regret (aim 1)
Time frame: at 2-7 days and 6 months after return of results
Communication Intention
Time frame: at 2-7 days after return of results
Communication to others
Time frame: at 6 months after return of results
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 2 Oct 2026.
- Individual participant dataSharing planned: No. 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.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Angela Bradbury, MD principal investigator
University of Pennsylvania
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing private web-portal eHealth disclosure of genetic results and eHealth education intervention (web or chatbot) in people with Genetic Disease and Cancer, run by Abramson Cancer Center at Penn Medicine at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: under way, not looking for participants, as of the sponsor's last update on 2 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Understanding of Genetic Information (time frame: at baseline, and at 2-7 days and 6 months after disclosure of research results). The study lists 3 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 2 Oct 2026; AzTrials last refreshed its copy on 6 Nov 2026.