Overview
The purpose of this study is to evaluate 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. This process is repeated as more people within the family are found to have the gene change. 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.
Eligibility
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
- 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 GREM1 RAD51D ATM MLH1 SMAD4 BARD1 MSH2 BMPR1A MSH6 BRCA1 PALB2 BRCA2 PMS2 BRIP1
POLD1 CDKN2A (P16) POLE CHEK2 PTEN EPCAM RAD51C
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
- Has a VUS identified in any of the following cancer predisposition genes:
APC CDK4 MAX MUTYH RAD51B SMAD4 ATM CDKN2A (P16) MBD4 NF1 RAD51C STK11 AXIN2 CHEK2 MEN1 NF2
RAD51D TERT BAP1 CTNNA1 MET NTHL1 RET TMEM127 BARD1 DICER1 MITF PALB2 RNF43 TP53 BLM EPCAM
MITF PMS2 RPS20 TSC1 BMPR1A EPCAM MLH1 POLD1 SDHA TSC2 BRCA1 FH MLH3 POLE SDHAF2 VHL BRCA2
FLCN MSH2 POT1 SDHB BRIP1 GREM1 MSH3 PTCH1 SDHC CDH1 HOXB13 MSH6 PTEN SDHD
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