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

Summary

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."

Conditions

• BRCA1 Mutation
• POLD1 Gene Mutation
• CDKN2A Mutation
• BRCA2 Mutation
• POLE Gene Mutation
• APC Gene Mutation
• ATM Gene Mutation
• MLH1 Gene Mutation
• BARD1 Gene Mutation
• MSH2 Gene Mutation
• BRIP1 Gene Mutation
• MSH6 Gene Mutation
• CHEK2 Gene Mutation
• PMS2 Gene Mutation
• PALB2 Gene Mutation
• EPCAM Gene Mutation
• RAD51C Gene Mutation
• BMPR1A Gene Mutation
• RAD51D Gene Mutation
• SMAD4
• PTEN Gene Mutation
• GREM1

Interventions

BEHAVIORAL

Intervention Arm At-risk Relative/ARR Contacts

Probands will give contact info for their ARR in the eDGP and indicate a date by which they will discuss the familial pathogenic variant with their ARR (can request a delay/halt to outreach). After this date the team will contact the ARR to invite them to review education and e-consent to the study. The study team will facilitate ARR cascade testing through telegenetics pre- and post-test counseling and saliva-based at home testing through MSK or a reference laboratory.

BEHAVIORAL

MyGene Portal

Through the MyGene Portal, participants will be able to continually access their genetic test results, personalized medical management recommendations from the MSK CGS care team, an interactive pedigree for personal/family history updates, and tailored educational materials for patients with a VUS in an effort to promote sustained engagement and transparency.

BEHAVIORAL

Standard of Care

Participants will received appropriate clinical care as outline by standard of care guidelines

Sponsors & Collaborators

• Memorial Sloan Kettering Cancer Center

  lead OTHER

Principal Investigators

• Kenneth Offit, MD, MPH · Memorial Sloan Kettering Cancer Center

Study Design

Allocation

RANDOMIZED

Purpose

HEALTH_SERVICES_RESEARCH

Masking

NONE

Model

PARALLEL

Eligibility

Min Age

25 Years

Sex

ALL

Healthy Volunteers

Yes

Timeline & Regulatory

Start

2022-12-01

Primary Completion

2026-05-31

Completion

2026-11-30

Countries

• United States

Study Locations