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

Launched by MEMORIAL SLOAN KETTERING CANCER CENTER · Jun 14, 2022

Keywords

ClinConnect Summary

This clinical trial is designed to improve how families manage genetic testing for cancer risks, particularly for those who may carry certain gene mutations linked to cancer. The study has two parts: the EfFORT Trial, which focuses on offering genetic testing to family members of individuals who have already tested positive for specific gene mutations, and the STRIVE Trial, which helps patients understand uncertain genetic test results. The goal is to see if healthcare providers reaching out directly to family members is more effective than patients informing them on their own. Additionally, the STRIVE Trial will test a new online portal to keep patients and their primary care providers informed about unclear genetic results.

To participate, you must be at least 25 years old, a current patient at the institution conducting the trial, and have received genetic counseling in the last three months. If you're part of a family with a known gene mutation, you may be invited to help your relatives get tested. For those who receive uncertain results, the trial aims to ensure you and your doctor stay updated on what those results might mean. Overall, participants can expect support and resources to navigate these important health decisions.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • EfFORT Trial Probands
• • 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 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, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDKN2A (P16), CHEK2, DICER1, EPCAM, FH, FLCN, GREM1, HOXB13, KIT, MAX, MEN1, MET, MITF, MLH1, MSH2, MSH6, PALB2, PMS2, POLD1, POLE, PTCH1, PTEN, RAD51B, RAD51C, RAD51D, RET, SDHB, SDHC, SDHD, SMAD4, 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