An Intervention to Increase Genetic Testing in Families Who May Share a Gene Mutation Related to Cancer Risk
BRCA1 Mutation, POLD1 Gene Mutation, CDKN2A Mutation
About this trial
This is an interventional health services research trial for BRCA1 Mutation focused on measuring EfFORT, Memorial Sloan Kettering Cancer Center, Genetic Testing, 22-023
Eligibility Criteria
Inclusion Criteria:
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 comprehension of written and verbal English 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:
BRCA1 POLD1 CDKN2A (P16) BRCA2 POLE APC I1307K ATM MLH1 BARD1 MSH2 BRIP1 MSH6 CHEK2 PMS2 PALB2 EPCAM RAD51C BMPR1A RAD51D SMAD4 PTEN GREM1
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.
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 comprehension of written and verbal English language
Exclusion Criteria:
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
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
Sites / Locations
- Memorial Sloan Kettering Basking Ridge (Limited Protocol Activities)Recruiting
- Memorial Sloan Kettering Monmouth (Limited Protocol Activities)Recruiting
- Memorial Sloan Kettering Bergen (Limited Protocol Activity)Recruiting
- Memorial Sloan Kettering Suffolk - Commack (Limited Protocol Activities)Recruiting
- Memorial Sloan Kettering Westchester (Limited Protocol Activities)Recruiting
- Memorial Sloan Kettering Cancer CenterRecruiting
- MSK at Ralph Lauren (Limited Protocol Activities)Recruiting
- Memorial Sloan Kettering Nassau (Limited Protocol Activity)Recruiting
Arms of the Study
Arm 1
Arm 2
Experimental
Experimental
Proband-Mediated Cascade Genetic Testing
Provider-Facilitated 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.
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.