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

Primary Purpose

BRCA1 Mutation, POLD1 Gene Mutation, CDKN2A Mutation

Status
Recruiting
Phase
Not Applicable
Locations
United States
Study Type
Interventional
Intervention
Intervention Arm At-risk Relative/ARR Contacts
Sponsored by
Memorial Sloan Kettering Cancer Center
About
Eligibility
Locations
Arms
Outcomes
Full info

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

25 Years - undefined (Adult, Older Adult)All SexesAccepts Healthy Volunteers

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

Arm Type

Experimental

Experimental

Arm Label

Proband-Mediated Cascade Genetic Testing

Provider-Facilitated Cascade Genetic Testing

Arm Description

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.

Outcomes

Primary Outcome Measures

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.

Secondary Outcome Measures

Full Information

First Posted
June 6, 2022
Last Updated
September 11, 2023
Sponsor
Memorial Sloan Kettering Cancer Center
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1. Study Identification

Unique Protocol Identification Number
NCT05420064
Brief Title
An Intervention to Increase Genetic Testing in Families Who May Share a Gene Mutation Related to Cancer Risk
Official Title
Effective Familial OutReach Via Tele-genetics (EfFORT): A Sustainable Model to Expand Access to MSK's Genetic Services
Study Type
Interventional

2. Study Status

Record Verification Date
September 2023
Overall Recruitment Status
Recruiting
Study Start Date
December 1, 2022 (Actual)
Primary Completion Date
May 31, 2026 (Anticipated)
Study Completion Date
November 30, 2026 (Anticipated)

3. Sponsor/Collaborators

Responsible Party, by Official Title
Sponsor
Name of the Sponsor
Memorial Sloan Kettering Cancer Center

4. Oversight

Studies a U.S. FDA-regulated Drug Product
No
Studies a U.S. FDA-regulated Device Product
No

5. Study Description

Brief Summary
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.

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
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

7. Study Design

Primary Purpose
Health Services Research
Study Phase
Not Applicable
Interventional Study Model
Parallel Assignment
Masking
None (Open Label)
Allocation
Randomized
Enrollment
896 (Anticipated)

8. Arms, Groups, and Interventions

Arm Title
Proband-Mediated Cascade Genetic Testing
Arm Type
Experimental
Arm Description
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.
Arm Title
Provider-Facilitated Cascade Genetic Testing
Arm Type
Experimental
Arm Description
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.
Intervention Type
Behavioral
Intervention Name(s)
Intervention Arm At-risk Relative/ARR Contacts
Intervention Description
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.
Primary Outcome Measure Information:
Title
Comparison of genetic testing uptake in provider-facilitated cascade testing intervention to the proband-mediated cascade testing control
Description
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.
Time Frame
12 months

10. Eligibility

Sex
All
Minimum Age & Unit of Time
25 Years
Accepts Healthy Volunteers
Accepts Healthy Volunteers
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 "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
Central Contact Person:
First Name & Middle Initial & Last Name or Official Title & Degree
Kenneth Offit, MD, MPH
Phone
646-888-4059
Email
offitk@mskcc.org
First Name & Middle Initial & Last Name or Official Title & Degree
Zsofia Stadler, MD
Phone
646-888-4039
Email
stadlerz@mskcc.org
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Kenneth Offit, MD, MPH
Organizational Affiliation
Memorial Sloan Kettering Cancer Center
Official's Role
Principal Investigator
Facility Information:
Facility Name
Memorial Sloan Kettering Basking Ridge (Limited Protocol Activities)
City
Basking Ridge
State/Province
New Jersey
ZIP/Postal Code
07920
Country
United States
Individual Site Status
Recruiting
Facility Contact:
First Name & Middle Initial & Last Name & Degree
Kenneth Offit, MD, MPH
Phone
646-888-4059
Facility Name
Memorial Sloan Kettering Monmouth (Limited Protocol Activities)
City
Middletown
State/Province
New Jersey
ZIP/Postal Code
07748
Country
United States
Individual Site Status
Recruiting
Facility Contact:
First Name & Middle Initial & Last Name & Degree
Kenneth Offit, MD, MPH
Phone
646-888-4059
Facility Name
Memorial Sloan Kettering Bergen (Limited Protocol Activity)
City
Montvale
State/Province
New Jersey
ZIP/Postal Code
07645
Country
United States
Individual Site Status
Recruiting
Facility Contact:
First Name & Middle Initial & Last Name & Degree
Kenneth Offit, MD, MPH
Phone
646-888-4059
Facility Name
Memorial Sloan Kettering Suffolk - Commack (Limited Protocol Activities)
City
Commack
State/Province
New York
ZIP/Postal Code
11725
Country
United States
Individual Site Status
Recruiting
Facility Contact:
First Name & Middle Initial & Last Name & Degree
Kenneth Offit, MD, MPH
Phone
646-888-4059
Facility Name
Memorial Sloan Kettering Westchester (Limited Protocol Activities)
City
Harrison
State/Province
New York
ZIP/Postal Code
10604
Country
United States
Individual Site Status
Recruiting
Facility Contact:
First Name & Middle Initial & Last Name & Degree
Kenneth Offit, MD, MPH
Phone
646-888-4059
Facility Name
Memorial Sloan Kettering Cancer Center
City
New York
State/Province
New York
ZIP/Postal Code
10021
Country
United States
Individual Site Status
Recruiting
Facility Contact:
First Name & Middle Initial & Last Name & Degree
Kenneth Offit, MD, MPH
Phone
646-888-4059
Facility Name
MSK at Ralph Lauren (Limited Protocol Activities)
City
New York
State/Province
New York
ZIP/Postal Code
10035
Country
United States
Individual Site Status
Recruiting
Facility Contact:
First Name & Middle Initial & Last Name & Degree
Kenneth Offit, MD, MPH
Phone
646-888-4059
Facility Name
Memorial Sloan Kettering Nassau (Limited Protocol Activity)
City
Uniondale
State/Province
New York
ZIP/Postal Code
11553
Country
United States
Individual Site Status
Recruiting
Facility Contact:
First Name & Middle Initial & Last Name & Degree
Kenneth Offit, MD, MPH
Phone
646-888-4059

12. IPD Sharing Statement

Plan to Share IPD
Yes
IPD Sharing Plan Description
Memorial Sloan Kettering Cancer Center supports the international committee of medical journal editors (ICMJE) and the ethical obligation of responsible sharing of data from clinical trials. The protocol summary, a statistical summary, and informed consent form will be made available on clinicaltrials.gov when required as a condition of Federal awards, other agreements supporting the research and/or as otherwise required. Requests for deidentified individual participant data can be made beginning 12 months after publication and for up to 36 months post publication. Deidentified individual participant data reported in the manuscript will be shared under the terms of a Data Use Agreement and may only be used for approved proposals. Requests may be made to: crdatashare@mskcc.org.
Links:
URL
http://www.mskcc.org
Description
Memorial Sloan Kettering Cancer Center

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

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