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

Conditions

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

Eligibility Criteria

Sex

ALL

Age

25 Years - N/A

Healthy Volunteers

Accepted

Interventions

• Intervention Arm At-risk Relative/ARR Contacts — BEHAVIORAL
  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.
• MyGene Portal — BEHAVIORAL
  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.
• Standard of Care — BEHAVIORAL
  Participants will received appropriate clinical care as outline by standard of care guidelines

Study Details

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."

Key Dates

Start date

Dec 1, 2022

Status verified

Nov 2025

Primary completion

May 31, 2026

Completion

Nov 30, 2026

Study Design

Enrollment

1,000 participants (estimated)

Allocation

RANDOMIZED

Intervention model

PARALLEL

Primary purpose

HEALTH_SERVICES_RESEARCH

Arms

• Active Comparator: Proband-Mediated Cascade Genetic Testing
  Control arm- Behavioral: As per standard of care, probands will be given a Family Letter by their genetic counselor that they will be instructed to share with their at-risk relatives (ARR). In addition to the recommendation that ARR undergo genetic counseling and a list of local genetics clinics, this letter will include a link to the eDGP through which control ARR can enroll onto the present study. For these ARR, the eDGP will only be used to obtain study e-consent and to administer study surveys.
• Experimental: EfFORT Trial Intervention Arm: Provider-Facilitated Cascade Genetic Testing
  Intervention arm-: Behavioral: 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.
• Active Comparator: STRIVE Trial Control Arm: Patient-Led VUS Follow-Up
  Patients will receive standard of care post-test genetic counseling and discussion of implications for relatives, if any. Consistent with standard practice, most patients will likely be recommended against telling their relatives to seek genetic testing for the Variant of uncertain significance/VUS because it is not clinically useful. All participants with a VUS will be recommended to re-contact the MSK CGS in 1-2 years for updated information related to the VUS result
• Experimental: STRIVE Trial Intervention Arm: Digitally-Facilitated VUS Follow-Up
  Following standard of care post-test genetic counseling, patients will be provided access to the MyGene Portal. Through this portal, participants will be able to continuously engage with interactive educational materials including information about Variant of uncertain significance/VUS results and recommendations, access tools for participants to communicate with the CGS team, access the interactive pedigree (FamGenix) to provide updates about personal/family medical history, receive notifications about VUS reclassification, and receive reminders to self-schedule a follow-up clinical visit to discuss updates. In this way, participants will have a transparent, ongoing, and structured follow-up plan for their VUS management.
• No Intervention: EfFORT Trial De-Identified Non-Randomized Control Arm
  This control arm is comparable to true standard of care.

Primary Outcome Measure

Comparison of genetic testing uptake in provider-facilitated cascade testing intervention to the proband-mediated cascade testing control [ Time Frame: 12 months ]

Central Contacts

• Kenneth Offit, MD, MPH
  646-888-4059
  [email protected]
• Zsofia Stadler, MD
  646-888-4039
  [email protected]

Locations (8)

Find similar trials in Basking Ridge, NJ

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