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

What You Need to Know Before You Apply

What is the purpose of this trial?

This trial explores a new method to encourage family members of individuals with BRCA gene mutations to undergo genetic testing. By using a patient navigator, educational videos, and easy access to genetic testing, the trial aims to determine if this approach, known as the Facilitated Cascade Testing Trial Intervention, leads to more completed tests compared to just providing a family letter. The goal is to enhance cancer prevention and treatment for those with inherited breast and gynecologic cancer syndromes. This trial may suit individuals diagnosed with a BRCA mutation in the past year who have a first-degree relative (such as a parent, sibling, or child) potentially at risk. As an unphased trial, it offers a unique opportunity to contribute to innovative approaches in genetic testing and cancer prevention.

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 prior data suggests that this intervention is safe for genetic testing?

Research has shown that the facilitated cascade testing method is generally well-received. In studies, this method helps family members of individuals with certain genetic mutations, such as BRCA1, to undergo testing. One study found that 56% of relatives participated in testing over ten years, with no major safety concerns reported.

The main goal is to improve access to genetic testing, helping people understand their cancer risks. Although the study doesn't specifically address safety issues, genetic testing is usually considered safe, as it only requires a saliva sample. This testing method aims to provide support and guidance, with no negative effects reported. ^{1 2 3 4 5}

Why are researchers excited about this trial?

Researchers are excited about the Facilitated Cascade Testing approach because it offers a more supportive and guided pathway for individuals undergoing genetic testing for BRCA mutations. Unlike the standard of care, where patients are primarily responsible for informing their family members, this method involves a patient navigator who assists with genetic counseling and provides educational resources. Additionally, it simplifies the testing process by offering free saliva kits and follow-up consultations, ensuring participants are well-connected with healthcare providers. The inclusion of patient advocacy and support group referrals also provides an extra layer of emotional and informational support, potentially leading to better outcomes and more comprehensive family engagement.

What evidence suggests that this trial's treatments could be effective for genetic testing in at-risk relatives?

Research has shown that directly offering genetic testing to relatives of individuals with a BRCA1 mutation increases the likelihood of family members undergoing testing. One study found that 56% of relatives chose to get tested over a 10-year period. This trial includes an arm where participants receive facilitated cascade testing, which studies have shown can reduce the risk of breast or ovarian cancer by 75% in some cases. This method not only increases testing rates but also improves health outcomes by catching and preventing cancer early. Another arm of this trial will follow the standard of care, where probands are instructed to share a family letter with their relatives to encourage testing. ^{1 2 6 7 8}

Who Is on the Research Team?

Melissa K Frey, MD, MS

Principal Investigator

Weill Medical College of Cornell University

Are You a Good Fit for This Trial?

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 for a Trial Participant

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

What Are the Treatments Tested in This Trial?

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.

How Is the Trial Designed?

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+

Published Research Related to This Trial

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]

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]

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]

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]

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]

Citations

1. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov/articles/PMC8603783/

Facilitated cascade testing (FaCT): a randomized ... Evans and colleagues demonstrated that direct offering of cascade testing to relatives of probands with a BRCA1 mutation led to an uptake of 56% over 10 years.

2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov/33443030/

Facilitated cascade testing (FaCT): a randomized ... The FaCT (Facilitated Cascade Testing) trial is a prospective multi-institutional randomized study comparing the efficacy of a multicomponent facilitated ...

3. clinicaltrials.gov clinicaltrials.gov/study/NCT04613440

NCT04613440 | FaCT Trial (Facilitated Cascade Testing ... This prospective randomized controlled trial will compare the efficacy of a multicomponent facilitated cascade testing intervention. One hundred and fifty ...

4. ascopubs.org ascopubs.org/doi/10.1200/GO-24-00387

Cascade Testing Among Patients With Breast Cancer The results showed a significant reduction in the incidence of breast or ovarian cancer (HR, 0.25 [95% CI, 0.08 to 0.75]). Kotsopoulos et al ...

5. sciencedirect.com sciencedirect.com/science/article/pii/S1098360025002205

Implementing interventions to increase genetic testing for ... To systematically review the implementation strategies, outcomes, and quality of interventions aimed at increasing the uptake of breast cancer-related genetic ...

6. withpower.com withpower.com/trial/phase-6-2021-e4d80

Facilitated Genetic Testing for BRCA Mutation Among those who completed testing, 41% were found to carry the familial pathogenic variant, leading to proactive cancer surveillance and risk-reducing surgeries ...

7. karger.com karger.com/phg/article/27/1/100/912034/Streamlined-Genetic-Education-and-Cascade-Testing

Streamlined Genetic Education and Cascade Testing in ... The primary outcome was the uptake of genetic testing. Results: Men in the WGE group were more likely to complete genetic counseling and/or ...

8. nature.com nature.com/articles/s41525-024-00412-0

Strategies to improve implementation of cascade testing in ... Cascade testing allows the benefits of genetic testing to propagate beyond the affected patients, and empower family members to understand their ...