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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

NCT ID: NCT05420064

Last Updated: 2025-11-12

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Clinical Phase

NA

Total Enrollment

1000 participants

Study Classification

INTERVENTIONAL

Study Start Date

2022-12-01

Study Completion Date

2026-11-30

Brief Summary

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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."

Detailed Description

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Conditions

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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

Keywords

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EfFORT Memorial Sloan Kettering Cancer Center Genetic Testing 22-023

Study Design

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Allocation Method

RANDOMIZED

Intervention Model

PARALLEL

Primary Study Purpose

HEALTH_SERVICES_RESEARCH

Blinding Strategy

NONE

Study Groups

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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.

Group Type ACTIVE_COMPARATOR

Standard of Care

Intervention Type BEHAVIORAL

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

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.

Group Type EXPERIMENTAL

Intervention Arm At-risk Relative/ARR Contacts

Intervention Type 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.

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

Group Type ACTIVE_COMPARATOR

Standard of Care

Intervention Type BEHAVIORAL

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

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.

Group Type EXPERIMENTAL

MyGene Portal

Intervention Type 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.

EfFORT Trial De-Identified Non-Randomized Control Arm

This control arm is comparable to true standard of care.

Group Type NO_INTERVENTION

No interventions assigned to this group

Interventions

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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.

Intervention Type 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.

Intervention Type BEHAVIORAL

Standard of Care

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

Intervention Type BEHAVIORAL

Eligibility Criteria

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Inclusion Criteria

EfFORT Trial Probands

* Current MSK patient
* Received post-test genetic counseling from MSK Clinical Genetics Service within the last 3 months (or within the last year for the de-identified non-randomized control probands)
* 25 years of age or older
* Self-reported "very well" comprehension of written and verbal English language or Spanish language
* Has at least one ARR who meets criteria for study enrollment (see below)
* First in the family to test positive for PV at MSK in any of the following cancer susceptibility genes, or an ARR of an MSK proband who converted to the proband role:

APC I1307K, ATM, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDKN2A (P16), CHEK2, EPCAM, GREM1, MLH1, MSH2, MSH6, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, SMAD4, BAP1, DICER1, FH, FLCN, HOXB13, KIT, MAX, MEN1, MET, MITF, PTCH1, RAD51B, RET, SDHB, SDHC, SDHD, STK11, SUFU, TMEM127, TSC1, TSC2, VHL

Principal Investigator discretion will be used to determine whether specific variants within the above genes meet a clinical actionability threshold to warrant familial genetic testing.

EfFORT Trial At-Risk Relatives (ARRs):

* Biological first-, second-, or third- degree relative of enrolled MSK proband
* 25 years of age or older
* Resides within the United States
* Self-reported medical insurance which can be in or out of network with MSK
* Self-reported "very well" comprehension of written and verbal English language

STRIVE Trial VUS Patients

* Current MSK patient
* Received post-test genetic counseling from MSK Clinical Genetics Service within the last 3 months
* 25 years of age or older
* Self-reported "very well" comprehension of written and verbal English language or Spanish language
* Has a VUS identified in any of the following cancer predisposition genes:

APC, ATM, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A (P16), CHEK2, CTNNA1, DICER1, ELOC, EPCAM, FH, FLCN, GREM1, HOXB13, KEAP1, MAX, MBD4, MEN1, MET, MITF, MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, NF1, NF2, NTHL1, PALB2, PMS2, POLD1, POLE, POT1, PTEN, RAD51B, RAD51C, RAD51D, RB1, RET, RNF43, RPS20, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, STK11, TERT, TMEM127, TP53, TSC1, TSC2, VHL

STRIVE Trial PCP Providers:

* Designated healthcare provider for an enrolled VUS patient
* Resides within the United States

Exclusion Criteria

EfFORT Trial Probands

* Is unwilling or unable to provide informed consent
* Is unwilling or unable to create a MyMSK patient portal account (see section 3.0 on MyMSK patient usage at MSK and CGS)
* Does not have an email address
* Has enrolled in the STRIVE trial

EfFORT Trial At-Risk Relatives (ARRs):

* Is unwilling or unable to provide informed consent
* Is unwilling or unable to create a MyMSK patient portal account
* Has previously undergone genetic testing for the familial PV
* Does not have an email address
* Has opted out of study contact

STRIVE Trial VUS Patients

* Is unwilling or unable to provide informed consent
* Is unwilling or unable to create a MyMSK patient portal account (see section 3.0 on MyMSK patient usage at MSK and CGS)
* Does not have an email address
* Has enrolled in the EfFORT trial

STRIVE Trial PCP Providers

* Contact information not available
Minimum Eligible Age

25 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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Memorial Sloan Kettering Cancer Center

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Kenneth Offit, MD, MPH

Role: PRINCIPAL_INVESTIGATOR

Memorial Sloan Kettering Cancer Center

Locations

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Memorial Sloan Kettering Basking Ridge (Limited Protocol Activities)

Basking Ridge, New Jersey, United States

Site Status RECRUITING

Memorial Sloan Kettering Monmouth (Limited Protocol Activities)

Middletown, New Jersey, United States

Site Status RECRUITING

Memorial Sloan Kettering Bergen (Limited Protocol Activity)

Montvale, New Jersey, United States

Site Status RECRUITING

Memorial Sloan Kettering Suffolk - Commack (Limited Protocol Activities)

Commack, New York, United States

Site Status RECRUITING

Memorial Sloan Kettering Westchester (Limited Protocol Activities)

Harrison, New York, United States

Site Status RECRUITING

Memorial Sloan Kettering Cancer Center

New York, New York, United States

Site Status RECRUITING

MSK at Ralph Lauren (Limited Protocol Activities)

New York, New York, United States

Site Status RECRUITING

Memorial Sloan Kettering Nassau (Limited Protocol Activity)

Uniondale, New York, United States

Site Status RECRUITING

Countries

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United States

Central Contacts

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Kenneth Offit, MD, MPH

Role: CONTACT

Phone: 646-888-4059

Email: [email protected]

Zsofia Stadler, MD

Role: CONTACT

Phone: 646-888-4039

Email: [email protected]

Facility Contacts

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Kenneth Offit, MD, MPH

Role: primary

Kenneth Offit, MD, MPH

Role: primary

Kenneth Offit, MD, MPH

Role: primary

Kenneth Offit, MD, MPH

Role: primary

Kenneth Offit, MD, MPH

Role: primary

Kenneth Offit, MD, MPH

Role: primary

Kenneth Offit, MD, MPH

Role: primary

Kenneth Offit, MD, MPH

Role: primary

Related Links

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http://www.mskcc.org

Memorial Sloan Kettering Cancer Center

Other Identifiers

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22-023

Identifier Type: -

Identifier Source: org_study_id