Clinical trial · Interventional
Penn Biobank Return of Research Results Program
A Randomized Protocol Evaluating Return of Actionable Genetic Research Results to Biobank Participants
NCT04242667CI-TRIAL-00078446completedN/AClinicalTrials.gov clinicaltrialsProvenance
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Summary
Brief summary (as posted)
The overall goal of the proposed research is to assess the feasibility of a randomized study evaluating the non-inferiority of an electronic Health (e-Health) delivery alternative (e.g. private web portal) as compared to return of actionable genetic research results with a genetic counselor.
Conditions
Conditions (4)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| Cancer | Malignant Neoplasm | ALIAS | 0.90 |
| Cardiovascular Diseases | — | UNRESOLVED | — |
| Hereditary Cancer | Hereditary Malignant Neoplasm | ALIAS | 0.90 |
| Hereditary Cardiac Amyloidosis | — | UNRESOLVED | — |
Interventions
Interventions (2)
| Intervention | Type | Mapped drug | Match |
|---|---|---|---|
| e-Health (web-based) disclosure portal | Behavioral | — | UNRESOLVED |
| Provider mediated disclosure | Behavioral | — | UNRESOLVED |
Design
Arms and outcomes
Arms (2)
- type
- EXPERIMENTAL
- label
- Actionable gene result for cancer risk
- interventionNames
- Behavioral: e-Health (web-based) disclosure portal
- Behavioral: Provider mediated disclosure
- type
- EXPERIMENTAL
- label
- Actionable gene result for cardiovascular disease risk
- interventionNames
- Behavioral: e-Health (web-based) disclosure portal
- Behavioral: Provider mediated disclosure
Primary outcomes (1)
- measure
- Completion of surveys
- timeFrame
- Baseline survey prior to disclosure of results, and then two post-disclosure surveys at 2-7 days and 6 months
- description
- Participant will self-complete surveys to collect psychological and knowledge outcomes
Eligibility
Eligibility (as posted)
- Sex
- All
- Minimum age
- 18 Years
Show eligibility criteria text
Inclusion Criteria: 1. Consented participant in University of Pennsylvania Biobank who previously submitted a DNA sample for research testing 2. English speaking 3. Aged 18 years or older 4. Agreed to be re-contacted in the future or did not indicate a preference on future contact regarding research results 5. Have an actionable mutation or have been selected as a control participant 6. Have not previously received actionable results of clinical genetic testing Exclusion Criteria: 1. Deceased assessed by electronic medical record, death index or identified after contact 2. Evidence in the electronic medical record that the subject has already received the same actionable result through clinical genetic testing
References
Publications (1)
- DERIVEDCocchella G, Phung L, Wood E, Egleston B, Hoffman-Andrews L, Brown S, Ofidis D, Mim R, Griffin H, Fetzer D, Owens A, Domchek S, Pyeritz R, Katona BW, Kallish S, Sirugo G, Weaver J, Nathanson KL, Rader DJ, Bradbury AR. An electronic review of clinical outcomes after return of actionable genetic research results from a health system research biobank. Eur J Med Genet. 2025 Dec;78:105061. doi: 10.1016/j.ejmg.2025.105061. Epub 2025 Nov 13. PMID 41241316