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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

Memorial Sloan Kettering Cancer Center · NCT05420064

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Key facts

Compensation
Not posted. Ask the study team before screening.
Who can join
Ages 25+ · All sexes
Healthy volunteers
Accepted
Study type
Interventional · Not applicable
Target enrollment
1000
US sites recruiting
8
Study start
December 1, 2022
Record last updated
August 27, 2026

Status re-checked against ClinicalTrials.gov within the last 12 hours.

What the study is about

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."

Being studied: Intervention Arm At-risk Relative/ARR Contacts; MyGene Portal; Standard of Care

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

Eligibility criteria

Copied from the official record. The study team makes the final decision at screening.

Show full criteria

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

Recruiting US locations

  • Memorial Sloan Kettering Basking Ridge (Limited Protocol Activities)

    Basking Ridge, NJ 07920

    Site contact: Kenneth Offit, MD, MPH · 646-888-4059

  • Memorial Sloan Kettering Monmouth (Limited Protocol Activities)

    Middletown, NJ 07748

    Site contact: Kenneth Offit, MD, MPH · 646-888-4059

  • Memorial Sloan Kettering Bergen (Limited Protocol Activity)

    Montvale, NJ 07645

    Site contact: Kenneth Offit, MD, MPH · 646-888-4059

  • Memorial Sloan Kettering Suffolk - Commack (Limited Protocol Activities)

    Commack, NY 11725

    Site contact: Kenneth Offit, MD, MPH · 646-888-4059

  • Memorial Sloan Kettering Westchester (Limited Protocol Activities)

    Harrison, NY 10604

    Site contact: Kenneth Offit, MD, MPH · 646-888-4059

  • Memorial Sloan Kettering Cancer Center

    New York, NY 10021

    Site contact: Kenneth Offit, MD, MPH · 646-888-4059

  • MSK at Ralph Lauren (Limited Protocol Activities)

    New York, NY 10035

    Site contact: Kenneth Offit, MD, MPH · 646-888-4059

  • Memorial Sloan Kettering Nassau (Limited Protocol Activity)

    Uniondale, NY 11553

    Site contact: Kenneth Offit, MD, MPH · 646-888-4059

Study contacts (from the official record)

  • Kenneth Offit, MD, MPH · 646-888-4059 · offitk@mskcc.org
  • Zsofia Stadler, MD · 646-888-4039 · stadlerz@mskcc.org
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An Intervention to Increase Genetic Testing in Families Who May… (NCT05420064) | Bored Studies