An Intervention to Increase Genetic Testing in Families Who May Share a Gene Mutation Related to Cancer Risk

Study Overview
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Brief Summary
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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.

Official Title
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Effective Familial OutReach Via Tele-genetics (EfFORT): A Sustainable Model to Expand Access to MSK's Genetic Services

Conditions
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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, BRCA1 Mutation, POLD1 Gene Mutation, CDKN2A Mutation

Intervention / Treatment
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* Behavioral: Intervention Arm At-risk Relative/ARR Contacts


Participation Criteria
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Eligibility Criteria
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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 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: 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 very well 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

Ages Eligible for Study
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Minimum Age: 25 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Health Services Research
Allocation: Randomized
Intervention Model: Parallel Assignment
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Experimental: Proband-Mediated Cascade Genetic Testing<br>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. | Behavioral: Intervention Arm At-risk Relative/ARR Contacts<br>* 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.<br>|
| Experimental: Provider-Facilitated Cascade Genetic Testing<br>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. | Behavioral: Intervention Arm At-risk Relative/ARR Contacts<br>* 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.<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Comparison of genetic testing uptake in provider-facilitated cascade testing intervention to the proband-mediated cascade testing control | Assess genetic testing uptake by first-, second-, and third-degree relatives in the provider-facilitated cascade testing intervention as compared to the proband-mediated cascade testing control. | 12 months | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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EfFORT, Memorial Sloan Kettering Cancer Center, Genetic Testing, 22-023