Clinical trial NCT05420064: 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
Official title: 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
Study type: INTERVENTIONAL
Overall status: RECRUITING
Phase: NA
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
Keywords: EfFORT
Memorial Sloan Kettering Cancer Center
Genetic Testing
22-023
Lead sponsor: Memorial Sloan Kettering Cancer Center
Sponsor class: OTHER
First posted: 2022-06-15
Enrollment: 2060
Sex: ALL
Minimum age (years): 25
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Allocation: RANDOMIZED
Intervention model: PARALLEL
Primary purpose: HEALTH_SERVICES_RESEARCH

Brief summary: 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."


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

Primary outcomes:
measure: Comparison of genetic testing uptake in provider-facilitated cascade testing intervention to the proband-mediated cascade testing control
timeFrame: 12 months
measure: Comparison of participant perceived quality of care
timeFrame: 12 months
Secondary outcomes:
Other outcomes:
Locations:
city: Basking Ridge
country: United States
facility: Memorial Sloan Kettering Basking Ridge (Limited Protocol Activities)
state: New Jersey
city: Middletown
country: United States
facility: Memorial Sloan Kettering Monmouth (Limited Protocol Activities)
state: New Jersey
city: Montvale
country: United States
facility: Memorial Sloan Kettering Bergen (Limited Protocol Activity)
state: New Jersey
city: Commack
country: United States
facility: Memorial Sloan Kettering Suffolk - Commack (Limited Protocol Activities)
state: New York
city: Harrison
country: United States
facility: Memorial Sloan Kettering Westchester (Limited Protocol Activities)
state: New York
city: New York
country: United States
facility: Memorial Sloan Kettering Cancer Center
state: New York
city: New York
country: United States
facility: MSK at Ralph Lauren (Limited Protocol Activities)
state: New York
city: Uniondale
country: United States
facility: Memorial Sloan Kettering Nassau (Limited Protocol Activity)
state: New York
Study officials:
affiliation: Memorial Sloan Kettering Cancer Center
name: Kenneth Offit, MD, MPH
role: PRINCIPAL_INVESTIGATOR
References: