Facilitated Genetic Testing for BRCA Mutation

Recruiting at 2 trial locations

Overseen By Isabelle R Chandler

Age: 18+

Sex: Any

Trial Phase: Academic

Sponsor: Weill Medical College of Cornell University

Disqualifiers: No email access, others

No Placebo Group All trial participants will receive the active study treatment (no placebo)

Compensation: Varies

Number of Visits: Unknown

820 Participants Needed

Trial Summary

What is the purpose of this trial?

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).

Will I have to stop taking my current medications?

The trial information does not specify whether you need to stop taking your current medications. It is best to discuss this with the trial coordinators or your doctor.

What data supports the effectiveness of the treatment Facilitated Cascade Testing Trial Intervention for BRCA mutation?

Research shows that facilitated cascade testing, which involves directly contacting at-risk relatives and offering genetic counseling and testing, leads to better uptake of genetic testing. This approach helps identify family members who may be at risk for hereditary cancer, allowing for earlier preventive care and potentially improving cancer outcomes. ^{1 2 3 4 5}

Is facilitated genetic testing for BRCA mutation safe for humans?

The research on facilitated genetic testing, including methods like telephone counseling and online platforms, shows it is generally safe and well-received by participants, with no reported safety concerns. ^{1 2 3 6 7}

How is the Facilitated Cascade Testing Trial Intervention treatment different from other treatments for BRCA mutation?

The Facilitated Cascade Testing Trial Intervention is unique because it involves a proactive approach where a genetics team directly contacts at-risk relatives by phone to offer genetic counseling and testing, rather than relying on patients to inform their family members. This method aims to increase the uptake of genetic testing and ensure timely preventive care for hereditary cancer syndromes. ^{1 2 3 5 6}

Research Team

Melissa K Frey, MD, MS

Principal Investigator

Weill Medical College of Cornell University

Eligibility Criteria

This trial is for English or Spanish-speaking adults over 18 with a recent BRCA1/2 mutation diagnosis at select medical centers. They must be receiving care related to the mutation and have at least one first-degree relative who could also be at risk. People without email access or unable to consent are excluded.

Inclusion Criteria

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.

I have a close family member at risk due to our shared genetics.

My cancer has a BRCA1 or BRCA2 mutation.

Exclusion Criteria

Is unwilling or unable to provide informed consent

Does not have email access.

Timeline

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Intervention

Participants receive facilitated cascade testing support, including genetic counseling, educational video, and access to a free genetic testing saliva kit

6 months

Initial genetic counseling call, follow-up call

Standard of Care

Probands share a family letter with FDRs to encourage genetic testing

6 months

Follow-up

Participants are monitored for completion of genetic testing and engagement in risk-reducing behaviors

18 months

Treatment Details

Interventions

• Facilitated Cascade Testing Trial Intervention
• Standard of Care

Trial Overview The FaCT Trial is testing whether a new approach (including an educational video, genetic testing kits mailed home, and telephone counseling) helps more relatives of patients get tested for BRCA mutations compared to just getting a family letter about it.

Participant Groups

Group I: Standard of care - Proband-mediated cascade testing Experimental Treatment 1 Intervention

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.

Group II: Intervention - Facilitated cascade testing Experimental Treatment 3 Interventions

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.

Group III: Exploratory Arm Experimental Treatment 3 Interventions

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).

Who Is Running the Clinical Trial?

Weill Medical College of Cornell University

Lead Sponsor

Trials

1,103

Recruited

1,157,000+

Basser Research Center for BRCA

Collaborator

Trials

1

Recruited

820+

Findings from Research

Facilitated cascade testing, which included telephone counseling and mailed saliva kits, achieved a high uptake of genetic testing among at-risk relatives (ARRs), with 66 out of 114 identified ARRs completing the testing.

Among those who completed testing, 41% were found to carry the familial pathogenic variant, leading to proactive cancer surveillance and risk-reducing surgeries, demonstrating the potential of this approach to enhance early detection and reduce cancer mortality.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Prospective Feasibility Trial of a Novel Strategy of Facilitated Cascade Genetic Testing Using Telephone Counseling. Frey, MK., Kahn, RM., Chapman-Davis, E., et al.[2021]

The FaCT trial aims to determine if a facilitated cascade testing strategy can significantly increase the uptake of genetic testing among first-degree relatives of patients with BRCA1/2 mutations compared to standard care, which relies on probands to share information.

The study will involve 150 probands and is expected to include around 450 first-degree relatives, with results anticipated by January 2024, highlighting the potential for improved cancer prevention through better genetic testing access.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Facilitated cascade testing (FaCT): a randomized controlled trial. Nitecki, R., Moss, HA., Watson, CH., et al.[2022]

A new health system-led approach for notifying at-risk relatives about genetic testing for hereditary cancer risks has been developed, aiming to improve the reach and effectiveness of cascade screening.

This feasibility study will assess how well this notification process works, focusing on its acceptability and initial effectiveness, with the goal of informing future larger trials to enhance genetic risk communication.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Feasibility, acceptability, and limited efficacy of health system-led familial risk notification: protocol for a mixed-methods evaluation. Blasi, PR., Scrol, A., Anderson, ML., et al.[2022]

From 2005 to 2015, BRCA testing rates increased slightly among women without breast or ovarian cancer, but significantly decreased among those with incident diagnoses, highlighting a gap in testing for high-risk individuals.

Despite having access to genetic services and insurance coverage, 97% of women with a family history indicating increased hereditary cancer risk remained untested by the end of the study, indicating barriers to effective cancer prevention strategies.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Trends in BRCA Test Utilization in an Integrated Health System, 2005-2015. Knerr, S., Bowles, EJA., Leppig, KA., et al.[2020]

The implementation of a dedicated Cascade Testing Clinic (CTC) significantly reduced the average wait time for appointments from 144 days in the New Patient Clinic (NPC) to just 46 days, making genetic testing more accessible for at-risk relatives.

The CTC also improved patient attendance rates, with a no-show/cancellation rate of 11.7% compared to 29.7% in the NPC, and allowed genetic counselors to see nearly twice as many patients, enhancing overall clinic efficiency.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Implementation of a dedicated cascade testing clinic for patients at risk for hereditary cancer syndromes. Jacobs, MF., Koeppe, ES., Chase, CL., et al.[2023]

An online initiative for cascade testing allowed 1101 carriers of cancer-associated genes to invite 2280 first-degree relatives for low-cost genetic testing, with a participation rate of 47.5%.

The program revealed that 4.9% of tested relatives had a pathogenic variant in a different gene, indicating that cascade testing can uncover additional genetic risks beyond the known familial variant.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Cascade Genetic Testing of Relatives for Hereditary Cancer Risk: Results of an Online Initiative. Caswell-Jin, JL., Zimmer, AD., Stedden, W., et al.[2020]

The Family Gene Toolkit, a customized web application for families with BRCA1/BRCA2 pathogenic variants, was developed based on feedback from 68 women and is designed to improve family communication about genetic testing results.

In a usability test with 18 women, participants reported high satisfaction with the toolkit, finding it useful for coping strategies and family communication, indicating its potential to promote cascade genetic testing among at-risk relatives.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Acceptability and Usability of the Family Gene Toolkit for Swiss and Korean Families Harboring BRCA1/BRAC2 Pathogenic Variants: A Web-Based Platform for Cascade Genetic Testing. Baroutsou, V., Duong, V., Signorini, A., et al.[2023]

References

1. United States pubmed.ncbi.nlm.nih.gov

Prospective Feasibility Trial of a Novel Strategy of Facilitated Cascade Genetic Testing Using Telephone Counseling. [2021]

2. England pubmed.ncbi.nlm.nih.gov

Facilitated cascade testing (FaCT): a randomized controlled trial. [2022]

3. England pubmed.ncbi.nlm.nih.gov

Feasibility, acceptability, and limited efficacy of health system-led familial risk notification: protocol for a mixed-methods evaluation. [2022]

4. United States pubmed.ncbi.nlm.nih.gov

Trends in BRCA Test Utilization in an Integrated Health System, 2005-2015. [2020]

5. United States pubmed.ncbi.nlm.nih.gov

Implementation of a dedicated cascade testing clinic for patients at risk for hereditary cancer syndromes. [2023]

6. United States pubmed.ncbi.nlm.nih.gov

Cascade Genetic Testing of Relatives for Hereditary Cancer Risk: Results of an Online Initiative. [2020]

7. Switzerland pubmed.ncbi.nlm.nih.gov

Acceptability and Usability of the Family Gene Toolkit for Swiss and Korean Families Harboring BRCA1/BRAC2 Pathogenic Variants: A Web-Based Platform for Cascade Genetic Testing. [2023]