BRCA1 MutationNCT04613440
FaCT Trial (Facilitated Cascade Testing Trial)
A study testing Educational Video, Mailed Saliva Kit for Genetic Testing and Telephone Counseling in people with BRCA1 Mutation and BRCA2 Mutation, run by Weill Medical College of Cornell University at 3 sites in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- BRCA1 Mutation, BRCA2 Mutation
- What is being tested?
- Educational Video, Mailed Saliva Kit for Genetic Testing and Telephone Counseling
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 524 participants
- Where
- 3 sitesUnited States
- Study dates
- 21 Jul 2021to 18 Sep 2026
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Who may be able to join
- 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
Who cannot join
- Is unwilling or unable to provide informed consent.
- Does not have email access.
Trial locations and contacts
3 sites in 1 country.
United States3 sites
Duke University
Durham, North Carolina, 27710
MD Anderson Cancer Center
Houston, Texas, 77030
Weill Cornell Medicine
New York, New York, 10065
About this study
Official title: Randomized Controlled Trial of Accessible Online Genetic Services for Cascade Testing for BRCA Mutation Carriers Versus Usual Care in a Clinic Setting
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).
Read the detailed description
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 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).The combined total enrollment for the randomized probands and FDRs, and the probands and relatives (first, second, and third-degree relatives) enrolled in the third arm will total 800. 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.
- Conditions
- BRCA1 Mutation, BRCA2 Mutation
- Being tested
- Family Letter (Standard of Care), Educational Video, Mailed Saliva Kit for Genetic Testing, Telephone Counseling
- Keywords
- Genetic Testing, Cascade, BRCA1, BRCA2
- Medical subject headings
- Fanconi Anemia, Complementation Group D1
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
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.
Educational VideoOther
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
Mailed Saliva Kit for Genetic TestingOther
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.
Telephone CounselingOther
The FDR's will be contacted and receive post genetic testing phone counseling
| Study group | Role | What they receive |
|---|---|---|
| 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. Receives: 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. Receives: 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). Receives: Other: Educational Video; Other: Mailed Saliva Kit for Genetic Testing; Other: Telephone Counseling |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 6 months
Secondary outcomes (1)
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.
Measured: 18 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted3 Nov 2020
- Study start21 Jul 2021
- Primary completion18 Sep 2025
- Study completion18 Sep 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for BRCA1 MutationStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Prevention
- Allocation
- Randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Enrolment
- 524 participants (actual)
Sponsor and investigators
- Lead sponsor
- Weill Medical College of Cornell University
- Sponsor type
- University, hospital or other
- Collaborators
- Basser Research Center for BRCA
- Responsible party
- Sponsor
- Investigators
- Melissa K Frey, MD, MS, Principal investigator, Weill Medical College of Cornell University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04613440
- Sponsor's protocol ID
- 20-03021615
- Status last verified
- Jun 2026
- First submitted
- 27 Oct 2020
- Last updated
- 30 Jun 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
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.
PubMed 33443030
Study at a glance
From the registry record, last updated by the sponsor on 30 Jun 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Randomized Controlled Trial of Accessible Online Genetic Services for Cascade Testing for BRCA Mutation Carriers Versus Usual Care in a Clinic Setting
- ClinicalTrials.gov ID
- NCT04613440
- Acronym / sponsor ID
- 20-03021615
- Conditions
- BRCA1 Mutation, BRCA2 Mutation
- Keywords
- Genetic Testing, Cascade, BRCA1, BRCA2
- Study type
- Interventional
- Recruitment status
- Active, not recruiting
- Enrolment
- 524 participants (actual)
- Lead sponsor
- Weill Medical College of Cornell UniversityUniversity, hospital or other
- Collaborators
- Basser Research Center for BRCA
- Study start
- 21 Jul 2021 (actual)
- Primary completion
- 18 Sep 2025 (actual)
- Study completion
- 18 Sep 2026 (estimated)
- First posted
- 3 Nov 2020 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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
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 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).The combined total enrollment for the randomized probands and FDRs, and the probands and relatives (first, second, and third-degree relatives) enrolled in the third arm will total 800. 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.
Study design
- Primary purpose
- Prevention
- Allocation
- Randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| Standard of care - Proband-mediated cascade testing | Other | Other: Family Letter (Standard of Care)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. |
| Intervention - Facilitated cascade testing | Other | Other: Educational Video, Other: Mailed Saliva Kit for Genetic Testing, Other: Telephone CounselingIn 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. |
| Exploratory Arm | Experimental | Other: Educational Video, Other: Mailed Saliva Kit for Genetic Testing, Other: Telephone CounselingProbands 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). |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (6 listed)
- 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
Key exclusion criteria (2 listed)
- Is unwilling or unable to provide informed consent.
- Does not have email access.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Family Letter (Standard of Care)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. | Other | Standard of care - Proband-mediated cascade testing |
| Educational VideoThe 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 | Other | Exploratory Arm, Intervention - Facilitated cascade testing |
| Mailed Saliva Kit for Genetic TestingThe 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. | Other | Exploratory Arm, Intervention - Facilitated cascade testing |
| Telephone CounselingThe FDR's will be contacted and receive post genetic testing phone counseling | Other | Exploratory Arm, Intervention - Facilitated cascade testing |
Primary outcome
Proportion of genetic testing by 6 months among FDRs on each study arm
Time frame: 6 months
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.
1 secondary outcome
Proportion of first-degree relatives who subsequently engage in recommended risk-reducing behaviors by 18 months
Time frame: 18 months
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 30 Jun 2026.
- Derived from this study: PubMed 33443030Nitecki 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.
- Individual participant dataSharing planned: No
Related trials for BRCA1 Mutation
RecruitingPhase 2
APOLLO: A Randomized Phase II Double-Blind Study of Olaparib Versus Placebo Following Curative Intent Therapy in Patients With Resected Pancreatic Cancer and a Pathogenic BRCA1, BRCA2 or PALB2 Mutation
Pancreatic Acinar Cell Carcinoma, Pancreatic Adenosquamous Carcinoma
Active, not recruitingObservational study
Evaluating the Effects of Genetic Testing on Patients' Stress Levels
Breast Cancer
RecruitingObservational study
Prospective Evaluation of High Resolution Dual Energy Computed Tomographic Imaging, Noninvasive (Liquid) Biopsies, and Minimally Invasive Surgical Surveillance for Early Detection of Mesotheliomas in Patients With BAP1 Tumor Predisposition Syndrome
Familial Cancer, BRCA1-Associated Protein-1 (BAP1) Mutations
RecruitingPhase 3
The Cancer of the Pancreas Screening-5 CAPS5)Study
Pancreas Cancer, Peutz-Jeghers Syndrome (PJS)
Active, not recruitingPhase 1
INO 5401 Vaccination in BRCA1/2 Mutation Carriers
BRCA1/2 Mutation
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Melissa K Frey, MD, MS principal investigator
Weill Medical College of Cornell University
3 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Educational Video, Mailed Saliva Kit for Genetic Testing and Telephone Counseling in people with BRCA1 Mutation and BRCA2 Mutation, run by Weill Medical College of Cornell University at 3 sites in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 6 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: under way, not looking for participants, as of the sponsor's last update on 30 Jun 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 3 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Proportion of genetic testing by 6 months among FDRs on each study arm (time frame: 6 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT04613440, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 30 Jun 2026.