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NCT Number: 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

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."

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Key information

Conditions

BRCA1 Mutation APC Gene Mutation ATM Gene Mutation BARD1 Gene Mutation BMPR1A Gene 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

Age range

25 year and older

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

Memorial Sloan Kettering Basking Ridge (Limited Protocol Activities), Basking Ridge, New Jersey, United States

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Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

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

Primary outcomes

  1. Comparison of genetic testing uptake in provider-facilitated cascade testing intervention to the proband-mediated cascade testing control

    Time frame: 12 months

    The Primary Objective for EfFORT Trial: Assess genetic testing uptake by first-, second-, and third-degree relatives in the provider-facilitated cascade testing intervention as compared to the proband-mediated cascade testing control.

  2. Comparison of participant perceived quality of care

    Time frame: 12 months

    The Primary Objective for STRIVE Trial: Assess perceived quality of Variant of uncertain significance/VUS follow-up care and continued engagement with the Clinical Genetics Service/CGS care team in the digitally-facilitated VUS follow-up intervention as compared to the patient-led VUS follow-up control. A modified subset of items based upon an existing survey of patient-centered quality of follow-up care for cancer survivors (Cronbach's α=0.65-0.93) will be used to measure patient perceptions of the quality of their follow-up care provided by both the CGS care team (11 items) and their PCPs (6 items). Items are measured on a 4-point Likert-type scale, and mean scores are computed such that higher scores indicate greater perceived quality of care This measure will be collected from VUS patient participants in both study arms and a mean score calculated across items.

Study contacts

Contact information is provided by the study sponsor or research team.

Kenneth Offit, MD, MPH

CONTACT

[email protected]

646-888-4059

Zsofia Stadler, MD

CONTACT

[email protected]

646-888-4039

Sponsors and collaborators

Lead sponsor

Memorial Sloan Kettering Cancer Center

Other

Registry information

Official study title

Digital Technology to Enhance Access to and Effectiveness of Cancer Genetic Counseling: Effective Familial OutReach Via Tele-genetics (EfFORT) Trial & Supporting Test Result Interpretation and Variant Education (STRIVE) Trial

Important dates

Study start
2022
Primary completion
2026
Study completion
2026
First posted
Jun 15, 2022
Registry last updated
Nov 12, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

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This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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