NCT05420064

An Intervention to Increase Genetic Testing in Families Who May Share a Gene Mutation Related to Cancer Risk and An Intervention to Help Patients and Their Primary Care Providers Stay Up-to-date About Uncertain Genetic Test Results

Recruiting now NA Last updated 12 November 2025

What this trial tests

NA trial testing Intervention Arm At-risk Relative/ARR Contacts in BRCA1 Mutation in 1,000 participants. Currently enrolling.

Timeline

1 December 2022

Primary endpoint
31 May 2026

30 November 2026

Quick facts

Lead sponsor	Memorial Sloan Kettering Cancer Center
Phase	NA
Status	Recruiting now
Study type	INTERVENTIONAL
Allocation	randomized
Design	parallel
Masking	none
Primary purpose	health services research
Enrollment	1,000
Start date	1 December 2022
Primary completion	31 May 2026
Estimated completion	30 November 2026
Sites	8 locations across United States

Drugs / interventions tested

• Intervention Arm At-risk Relative/ARR Contacts
• MyGene Portal
• Standard of Care

Conditions studied

• BRCA1 Mutation — all drugs for BRCA1 Mutation →
• POLD1 Gene Mutation — all drugs for POLD1 Gene Mutation →
• CDKN2A Mutation — all drugs for CDKN2A Mutation →
• BRCA2 Mutation — all drugs for BRCA2 Mutation →

Sponsor

Memorial Sloan Kettering Cancer Center — full company profile →

Who can join

25 and older, any sex, with BRCA1 Mutation or POLD1 Gene Mutation. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

The purpose of this study is to examine the impact of new cancer genetic counseling models that aim to increase patient engagement with the genetics team. To do this, the study consists of two trials to evaluate two related interventions. The first trial is the EfFORT Trial, which evaluates a cascade genetic testing intervention. Cascade testing is the process of offering genetic testing to people who are at risk of having inherited a possibly harmful gene change that has been found in their family. The study will look at how often genetic testing occurs when healthcare providers have permission to reach out to family members to recommend genetic testing and to help those who are interested get tested. The study will look at whether this cascade testing intervention is practical and effective. The study would like to see how this approach of healthcare providers reaching out directly to family members compares with the usual approach of patients telling their family members about the recommendation to get genetic testing. The second trial is the STRIVE Trial, which evaluates an intervention designed to help patients who receive an uncertain result from genetic testing (also called a "variant of uncertain significance") stay connected with their genetics care team, and to help patients and their primary care providers stay up-to-date about the meaning of uncertain genetic test results. The study will look at whether an intervention that consists of a study online portal for patients with uncertain genetic test results and their primary care providers will help them to stay up-to-date on the meaning of uncertain genetic test results. The study would like to see how this intervention compares to the usual approach of encouraging patients to re-contact their genetics care team on their own about a year after getting genetic testing."

Publications & conference data

No peer-reviewed publications indexed yet for this trial.