Penn Medicine Biobank Return of Results Program

NCT06089954 | Active Not Recruiting DMC

• 2 other identifiers: UPCC 10023853617
• Study Type: interventional
• Target: 2,500
• Locations: 1 country
• Sites: 1

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.

Conditions

Genetic Disease; Cardiovascular Diseases; Cancer

Keywords

Genetic counseling; Return of research results; Genetic testing

Outcome Measures

Primary Outcomes (3)

• 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.

  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.

  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.

  at baseline, and at 2-7 days and 6 months after disclosure of research results

Secondary Outcomes (6)

• Perceptions of genetic disease

  at baseline, and at 2-7 days and 6 months after disclosure of research results

• General anxiety and depression

  at baseline, and at 2-7 days and 6 months after disclosure of research results

• Multidimensional response to testing

  2-7 days and 6 months after disclosure of research results

• Decisional regret (aim 1)

  at 2-7 days and 6 months after return of results

• Communication Intention

  at 2-7 days after return of results

Study Arms (2)

ROR Arm 1

OTHER

Disclosure of results with a Genetic Counselor.

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).

Other: private web-portal eHealth disclosure of genetic results; Other: eHealth education intervention (web or chatbot)

Interventions

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.

ROR Arm 1; ROR Arm 2

private web-portal eHealth disclosure of genetic results OTHER

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

ROR Arm 2

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Columbia University: collaborator
• Thomas Jefferson University: collaborator
• Abramson Cancer Center at Penn Medicine: lead
• Fox Chase Cancer Center: collaborator

Study Sites (1)

University of Pennsylvania

Philadelphia, Pennsylvania, 19104, United States

Location

MeSH Terms

Conditions

Genetic Diseases, Inborn; Neoplasms; Cardiovascular Diseases

Condition Hierarchy (Ancestors)

Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Angela Bradbury, MD

  University of Pennsylvania

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: RANDOMIZED
• Masking: NONE
• Purpose: HEALTH SERVICES RESEARCH
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Model Details: Randomized non-inferiority trial

Study Record Dates

• First Submitted: August 21, 2023
• First Posted: October 19, 2023
• Study Start: October 20, 2023
• Primary Completion (Estimated): July 1, 2026
• Study Completion (Estimated): September 30, 2026
• Last Updated: May 26, 2026

Record last verified: 2026-05

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)