Penn Biobank Return of Research Results Program

NCT04242667 | Completed

• 2 other identifiers: UPCC 08021833373
• Study Type: interventional
• Target: 260
• Locations: 1 country
• Sites: 1

Brief Summary

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

Cancer; Cardiovascular Diseases; Hereditary Cancer; Hereditary Cardiac Amyloidosis

Outcome Measures

Primary Outcomes (1)

• Completion of surveys

  Participant will self-complete surveys to collect psychological and knowledge outcomes

  Baseline survey prior to disclosure of results, and then two post-disclosure surveys at 2-7 days and 6 months

Study Arms (2)

Actionable gene result for cancer risk

EXPERIMENTAL

Behavioral: e-Health (web-based) disclosure portal; Behavioral: Provider mediated disclosure

Actionable gene result for cardiovascular disease risk

EXPERIMENTAL

Behavioral: e-Health (web-based) disclosure portal; Behavioral: Provider mediated disclosure

Interventions

e-Health (web-based) disclosure portal BEHAVIORAL

Patient uses secure web-based portal to access genetic research results

Actionable gene result for cancer risk; Actionable gene result for cardiovascular disease risk

Provider mediated disclosure BEHAVIORAL

Patient has disclosure of genetic research result by a provider (genetic counselor)

Actionable gene result for cancer risk; Actionable gene result for cardiovascular disease risk

Eligibility Criteria

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

You may qualify if:

• Consented participant in University of Pennsylvania Biobank who previously submitted a DNA sample for research testing
• English speaking
• Aged 18 years or older
• Agreed to be re-contacted in the future or did not indicate a preference on future contact regarding research results
• Have an actionable mutation or have been selected as a control participant
• Have not previously received actionable results of clinical genetic testing

You may not qualify if:

• Deceased assessed by electronic medical record, death index or identified after contact
• Evidence in the electronic medical record that the subject has already received the same actionable result through clinical genetic testing

Sponsors & Collaborators

• Abramson Cancer Center at Penn Medicine: lead
• Fox Chase Cancer Center: collaborator

Study Sites (1)

University of Pennsylvania

Philadelphia, Pennsylvania, 19104, United States

Location

Related Publications (1)

• Cocchella 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 DERIVED

MeSH Terms

Conditions

Neoplasms; Cardiovascular Diseases

Study Officials

• Angela Bradbury, M.D.

  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

Study Record Dates

• First Submitted: January 24, 2020
• First Posted: January 27, 2020
• Study Start: March 1, 2020
• Primary Completion: April 11, 2023
• Study Completion: August 1, 2023
• Last Updated: July 1, 2024

Record last verified: 2024-06

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)