FaCT Trial (Facilitated Cascade Testing Trial)

Study Overview
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Brief Summary
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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).

Detailed Description
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This prospective randomized controlled trial will compare the efficacy of a multicomponent facilitated cascade testing intervention. One hundred and fifty probands with a diagnoses of a BRCA1/2 mutation will be enrolled and randomized to the intervention vs. control arms. Probands will be asked to share the names and contact information for all FDR (First Degree Relative) with whom they have shared their genetic testing results. One hundred and fifty probands will be recruited and randomized and, therefore, based on our institutional experience, the investigators anticipate on average 3 FDRs per proband, therefore up to 450 FDRs. 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. 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 genetic testing 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. Participating FDRs will complete quality of life assessments. FDRs found to have BRCA1/2 mutations will be followed to determine if they completed cancer risk-reducing surveillance or surgery as a result of the genetic testing results. Analyses will assess the proportion of first degree relatives who complete genetic testing by 6 months (primary outcome), as well as the proportion who engage subsequently in recommended risk-reducing behaviors by 18 months and quality of life; distributions of time between proband diagnosis and first degree relative testing; and potential covariate correlations. Probands of Jewish heritage 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 referral to a culturally sensitive support organization for additional guidance. We estimate enrolling up to 60 subjects into this exploratory third arm (20 probands and 40 FDRs). The combined total enrollment for the randomized probands and FDRs, and the probands and FDRs of Jewish heritage enrolled in the third arm will total 660. To recruit patients for all arms of this study, we will identify eligible probands from any of the following sources: Genetic Counselors, Institutional Clinicians, BRCA Genetics Conferences, and by reviewing clinic schedules on weekly basis for potentially eligible patients.

Official Title
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Randomized Controlled Trial of Accessible Online Genetic Services for Cascade Testing for BRCA Mutation Carriers Versus Usual Care in a Clinic Setting

Conditions
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BRCA1 Mutation, BRCA2 Mutation

Intervention / Treatment
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* Other: Family Letter (Standard of Care)
* Other: Educational Video
* Other: Mailed Saliva Kit for Genetic Testing
* Other: Telephone Counseling


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: 18 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 Exclusion Criteria: Is unwilling or unable to provide informed consent. Does not have email access.

Ages Eligible for Study
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Minimum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Prevention
Allocation: Randomized
Intervention Model: Parallel Assignment
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Other: Standard of care - Proband-mediated cascade testing<br>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)<br>* 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.<br>|
| Other: Intervention - Facilitated cascade testing<br>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<br>* 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<br>Other: Mailed Saliva Kit for Genetic Testing<br>* 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.<br>Other: Telephone Counseling<br>* The FDR's will be contacted and receive post genetic testing phone counseling<br>|
| Experimental: Exploratory Arm<br>Probands of Jewish heritage 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 referral to a culturally sensitive support organization for additional guidance. | Other: Educational Video<br>* 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<br>Other: Mailed Saliva Kit for Genetic Testing<br>* 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.<br>Other: Telephone Counseling<br>* The FDR's will be contacted and receive post genetic testing phone counseling<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| 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 Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Proportion of first-degree relatives who subsequently engage in recommended risk-reducing behaviors by 18 months | To compare proportion of engagement in risk reducing behaviors by 18 month follow up. | 18 months | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Genetic Testing