FaCT Trial (Facilitated Cascade Testing Trial)

NCT04613440 | Recruiting

• 1 other identifier: 20-03021615
• Study Type: interventional
• Target: 820
• Locations: 1 country
• Sites: 3

Brief Summary

The purpose of this study is to assess an intervention that incorporates engagement strategies with a medical team navigator, an educational video and accessible genetic testing services to maximize the genetic testing and education of at-risk relatives. In this study, first degree relatives who agree to participate will either receive this intervention or standard of care. The investigators do not know if the facilitated interventional method will be more effective than the standard of care method. This research is being done because identification of patients with inherited gynecologic/breast cancer syndromes is critical to enable delivery of tailored cancer treatment and cancer prevention to both the patients and their at-risk relatives. Cascade genetic testing, defined as extending genetic testing to the family members of affected patients, results in a more precise risk assessment and initiation of appropriate cancer screening and prevention strategies. Therefore, this trial will compare the efficacy of a multicomponent facilitated intervention for first degree relatives vs. standard of care in terms of the overall proportion of first degree relatives who complete genetic testing by 6 months (primary outcome).

Conditions

BRCA1 Mutation; BRCA2 Mutation

Keywords

Genetic Testing, Cascade, BRCA1, BRCA2

Outcome Measures

Primary Outcomes (1)

• Proportion of genetic testing by 6 months among FDRs on each study arm

  To compare proportion of completion of genetic testing at 6 months follow-up among first degree family relatives (referred to herein as "FDR": son, daughter, full-brother, full-sister, mother, father) of patients with a confirmed BRCA1/2 mutation (referred to as "proband") randomized to the intervention arm versus the standard of care.

  6 months

Secondary Outcomes (1)

• Proportion of first-degree relatives who subsequently engage in recommended risk-reducing behaviors by 18 months

  18 months

Study Arms (3)

Standard of care - Proband-mediated cascade testing

OTHER

Probands randomized to the standard of care group will be instructed to share a family letter (providing information on the familial mutation) with their FDRs and encourage FDRs to complete genetic testing.

Other: Family Letter (Standard of Care)

Intervention - Facilitated cascade testing

OTHER

In the intervention group, a patient navigator will provide facilitated support, including an initial genetic counseling call, an email with a link to an educational video, and, for individuals who are interested in completing testing - a link to create an account for a free saliva kit and a follow-up call to discuss the results and ensure participants are connected with their primary care provider or other clinician, as appropriate.

Other: Educational Video; Other: Mailed Saliva Kit for Genetic Testing; Other: Telephone Counseling

Exploratory Arm

EXPERIMENTAL

Probands at WCM only who do not meet eligibility criteria for randomization to the intervention and control arms will be offered enrollment in a third arm, in which they will receive the intervention in addition to the option for referral to patient advocacy/support groups including FORCE: Facing Hereditary Cancer EMPOWERED, Sharsheret, SHARE, LatinaSHARE, Oneinforty, Susan G. Komen, Any Mountain, and Genetic Support Foundation, for additional guidance. Probands enrolled in this third arm only will be asked to share the names and contact information for all first, second, and third-degree relatives with whom they have shared their genetic testing results. We estimate enrolling up to 200 subjects into this exploratory third arm (50 probands and 150 Relatives including first, second, and third-degree relatives).

Other: Educational Video; Other: Mailed Saliva Kit for Genetic Testing; Other: Telephone Counseling

Interventions

Family Letter (Standard of Care) OTHER

The family letter is given to probands in the standard of care arm and provides information on the familial mutation and serves to encourage first degree relatives to complete genetic testing.

Standard of care - Proband-mediated cascade testing

Educational Video OTHER

The educational video is provided by the clinical genetic testing laboratory and explains the importance and implications of genetic testing. This educational video is shared with first degree relatives in the intervention arm

Exploratory Arm; Intervention - Facilitated cascade testing

Mailed Saliva Kit for Genetic Testing OTHER

The FDR's email will be sent to the genetic testing lab, Invitae, which will allow them to log on to the online portal, create a unique account, and order a genetic testing saliva kit free of charge. The FDR will receive the kit and instructions in the mail. The FDR will collect the saliva sample and send the sample back to the genetic testing laboratory.

Exploratory Arm; Intervention - Facilitated cascade testing

Telephone Counseling OTHER

The FDR's will be contacted and receive post genetic testing phone counseling

Exploratory Arm; Intervention - Facilitated cascade testing

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• years of age or older as documented in the medical record
• Speaks and reads English or Spanish as reported by the patient
• Patients who are currently receiving diagnostic, treatment, or follow-up care at New York Presbyterian/ Weill Cornell Medical Center, MD Anderson Cancer Center, Duke University or Columbia University.
• Patients with a newly diagnosed BRCA mutation presenting for consultation OR patients with known BRCA mutations who have been diagnosed with a confirmed deleterious (pathogenic) variant in BRCA1, or BRCA2 within the preceding 12 months as documented in the medical record
• BRCA1/2 mutation that is included on testing panel provided by the clinical genetic testing laboratory
• Patients who have at least one at risk relative who meets criteria for first degree relatives

You may not qualify if:

• Is unwilling or unable to provide informed consent.
• Does not have email access.

Sponsors & Collaborators

• Weill Medical College of Cornell University: lead
• Basser Research Center for BRCA: collaborator

Study Sites (3)

Weill Cornell Medicine

New York, New York, 10065, United States

RECRUITING

Duke University

Durham, North Carolina, 27710, United States

RECRUITING

MD Anderson Cancer Center

Houston, Texas, 77030, United States

RECRUITING

Related Publications (1)

• Nitecki R, Moss HA, Watson CH, Urbauer DL, Melamed A, Lu KH, Lipkin SM, Offit K, Rauh-Hain JA, Frey MK. Facilitated cascade testing (FaCT): a randomized controlled trial. Int J Gynecol Cancer. 2021 May;31(5):779-783. doi: 10.1136/ijgc-2020-002118. Epub 2020 Dec 18.

  PMID: 33443030 DERIVED

MeSH Terms

Conditions

Fanconi Anemia, Complementation Group D1

Interventions

Standard of Care; Genetic Testing

Intervention Hierarchy (Ancestors)

Quality Indicators, Health Care; Quality of Health Care; Health Services Administration; Health Care Quality, Access, and Evaluation; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Investigative Techniques; Genetic Techniques; Genetic Services; Health Services; Health Care Facilities Workforce and Services; Diagnostic Services; Preventive Health Services

Study Officials

• Melissa K Frey, MD, MS

  Weill Medical College of Cornell University

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Melissa K Frey, MD, MS

CONTACT

212-746-3049; mkf2002@med.cornell.edu

Isabelle R Chandler

CONTACT

212-746-2071; wcmFaCTstudy@med.cornell.edu

Study Design

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

Study Record Dates

• First Submitted: October 27, 2020
• First Posted: November 3, 2020
• Study Start: July 21, 2021
• Primary Completion: March 1, 2026
• Study Completion (Estimated): December 1, 2026
• Last Updated: October 1, 2025

Record last verified: 2025-09

Data Sharing

• IPD Sharing: Will not share

Locations

US (3)