Facilitated genetic testing for families at risk of BRCA mutations

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

Not applicable Interventional Weill Medical College of Cornell University · NCT04613440

This study is testing if a new support program can help family members of people with BRCA mutations get genetic testing and cancer prevention advice more effectively than the usual care.

Quick facts

PhaseNot applicable
Study typeInterventional
Enrollment820 (estimated)
Ages18 Years and up
SexAll
SponsorWeill Medical College of Cornell University Academic / other
Locations3 sites (New York, New York and 2 other locations)
Trial IDNCT04613440 on ClinicalTrials.gov

What this trial studies

This trial evaluates an intervention designed to enhance genetic testing and education for first-degree relatives of individuals with BRCA1 or BRCA2 mutations. Participants, known as probands, will be randomized to receive either standard care or a facilitated intervention that includes support from a medical navigator, an educational video, and access to free genetic testing services. The goal is to improve the identification of at-risk relatives and ensure they receive appropriate cancer screening and prevention strategies. The study aims to determine if this multicomponent approach is more effective than the standard method in promoting genetic testing among family members.

Who should consider this trial

Good fit: Ideal candidates include adults aged 18 and older with a confirmed BRCA1 or BRCA2 mutation and at least one first-degree relative who is at risk.

Not a fit: Patients who are unwilling or unable to provide informed consent or do not have email access may not benefit from this study.

Why it matters

Potential benefit: If successful, this approach could lead to earlier detection and prevention of breast and gynecologic cancers in at-risk relatives.

How similar studies have performed: Other studies have shown promise in using facilitated approaches for genetic testing, indicating potential for success in this novel intervention.

Eligibility criteria

Show full inclusion / exclusion criteria
Inclusion Criteria:

1. 18 years of age or older as documented in the medical record
2. Speaks and reads English or Spanish as reported by the patient
3. 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.
4. 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
5. BRCA1/2 mutation that is included on testing panel provided by the clinical genetic testing laboratory
6. Patients who have at least one at risk relative who meets criteria for first degree relatives

Exclusion Criteria:

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

Where this trial is running

New York, New York and 2 other locations

Study contacts

How to participate

  1. Review the eligibility criteria above with your treating physician.
  2. Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
  3. Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions BRCA1 MutationBRCA2 MutationGenetic Testing, Cascade, BRCA1, BRCA2
Last reviewed 2026-06-13 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.