Clinical trial NCT06089954: Penn Medicine Biobank Return of Results Program
Official title: A Randomized Study of Web Versus Genetic Counselor Return of Actionable Genetic Research Results to Biobank Participants
Study type: INTERVENTIONAL
Overall status: ENROLLING_BY_INVITATION
Phase: NA
Conditions: Genetic Disease
Cancer
Cardiovascular Diseases
Keywords: Genetic counseling
Return of research results
Genetic testing
Lead sponsor: Abramson Cancer Center at Penn Medicine
Sponsor class: OTHER
Collaborators: name: Fox Chase Cancer Center
name: Columbia University
name: Thomas Jefferson University
First posted: 2023-10-19
Enrollment: 2500
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: RANDOMIZED
Intervention model: PARALLEL
Intervention model description: Randomized non-inferiority trial
Primary purpose: HEALTH_SERVICES_RESEARCH

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.

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

Primary outcomes:
measure: Understanding of Genetic Information
timeFrame: at baseline, and at 2-7 days and 6 months after disclosure of research results
measure: Reactions to Genomic Information
timeFrame: at baseline, and at 2-7 days and 6 months after disclosure of research results
measure: Behavioral Use of Genomic Information
timeFrame: at baseline, and at 2-7 days and 6 months after disclosure of research results
Secondary outcomes:
measure: Perceptions of genetic disease
timeFrame: at baseline, and at 2-7 days and 6 months after disclosure of research results
measure: General anxiety and depression
timeFrame: at baseline, and at 2-7 days and 6 months after disclosure of research results
measure: Multidimensional response to testing
timeFrame: 2-7 days and 6 months after disclosure of research results
measure: Decisional regret (aim 1)
timeFrame: at 2-7 days and 6 months after return of results
measure: Communication Intention
timeFrame: at 2-7 days after return of results
measure: Communication to others
timeFrame: at 6 months after return of results
Other outcomes:
Locations:
city: Philadelphia
country: United States
facility: University of Pennsylvania
state: Pennsylvania
Study officials:
affiliation: University of Pennsylvania
name: Angela Bradbury, MD
role: PRINCIPAL_INVESTIGATOR
References: