Increasing Genetic Testing for Families at Risk of Cancer
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
NA · Memorial Sloan Kettering Cancer Center · NCT05420064
This study is testing a new way to encourage families at risk of cancer to get genetic testing by having healthcare providers reach out directly to them instead of relying on patients to share their results.
Quick facts
| Phase | NA |
|---|---|
| Study type | Interventional |
| Enrollment | 1000 (estimated) |
| Ages | 25 Years and up |
| Sex | All |
| Sponsor | Memorial Sloan Kettering Cancer Center (other) |
| Locations | 8 sites (Basking Ridge, New Jersey and 7 other locations) |
| Trial ID | NCT05420064 on ClinicalTrials.gov |
What this trial studies
This study evaluates new models of cancer genetic counseling aimed at enhancing patient engagement with genetics teams. It consists of two trials, with the first focusing on cascade genetic testing, where healthcare providers reach out to family members of patients who have tested positive for harmful gene mutations. The goal is to assess the practicality and effectiveness of this approach compared to traditional methods where patients inform their relatives. By facilitating direct communication, the study aims to increase the rate of genetic testing among at-risk individuals.
Who should consider this trial
Good fit: Ideal candidates include current patients at Memorial Sloan Kettering who have received recent genetic counseling and have at least one at-risk relative eligible for testing.
Not a fit: Patients who do not have a family history of the specified gene mutations or who are not current patients at Memorial Sloan Kettering may not benefit from this study.
Why it matters
Potential benefit: If successful, this approach could significantly improve early detection and management of cancer risk in families with genetic mutations.
How similar studies have performed: Other studies have shown promise in similar approaches to genetic testing, indicating potential for success in this intervention.
Eligibility criteria
Show full inclusion / exclusion 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
Where this trial is running
Basking Ridge, New Jersey and 7 other locations
- Memorial Sloan Kettering Basking Ridge (Limited Protocol Activities) — Basking Ridge, New Jersey, United States (RECRUITING)
- Memorial Sloan Kettering Monmouth (Limited Protocol Activities) — Middletown, New Jersey, United States (RECRUITING)
- Memorial Sloan Kettering Bergen (Limited Protocol Activity) — Montvale, New Jersey, United States (RECRUITING)
- Memorial Sloan Kettering Suffolk - Commack (Limited Protocol Activities) — Commack, New York, United States (RECRUITING)
- Memorial Sloan Kettering Westchester (Limited Protocol Activities) — Harrison, New York, United States (RECRUITING)
- Memorial Sloan Kettering Cancer Center — New York, New York, United States (RECRUITING)
- MSK at Ralph Lauren (Limited Protocol Activities) — New York, New York, United States (RECRUITING)
- Memorial Sloan Kettering Nassau (Limited Protocol Activity) — Uniondale, New York, United States (RECRUITING)
Study contacts
- Principal investigator: Kenneth Offit, MD, MPH — Memorial Sloan Kettering Cancer Center
- Study coordinator: Kenneth Offit, MD, MPH
- Email: offitk@mskcc.org
- Phone: 646-888-4059
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions: BRCA1 Mutation, POLD1 Gene Mutation, CDKN2A Mutation, BRCA2 Mutation, POLE Gene Mutation, APC Gene Mutation, ATM Gene Mutation, MLH1 Gene Mutation