An Intervention to Increase Genetic Testing in Families Who May Share a Gene Mutation Related to Cancer Risk
Study Details
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.
| Condition or Disease | Intervention/Treatment | Phase |
|---|---|---|
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Study Design
Arms and Interventions
| Arm | Intervention/Treatment |
|---|---|
| Proband-mediated cascade testing arm Control arm |
Behavioral: Multidimensional Impact of Cancer Risk Assessment questionnaire
Participants will complete questionnaires at 6-months (+/- 4 weeks) and 12-months (+/- 4 weeks) following their study enrollment. This validated scale measures adverse emotional reactions, and includes three subscales that measure Uncertainty, Distress, and Positive Experiences in response to genetic test results (Cronbach's α≥0.75 for each subscale).
Other Names:
Behavioral: Satisfaction with Decision Scale
Participants will complete questionnaires at 6-months (+/- 4 weeks) and 12-months (+/- 4 weeks) following their study enrollment. This validated scale measures satisfaction with healthcare decisions (Cronbach's α=0.88), and will be used to assess satisfaction with the decision about undergoing genetic testing for the familial PV or not.
Other Names:
Behavioral: Cancer Prevention Behaviors uptake and intentions
Participants will complete questionnaires at 6-months (+/- 4 weeks) and 12-months (+/- 4 weeks) following their study enrollment. Widely used and validated items derived from the Behavioral Risk Factor Surveillance System and National Health Interview Survey will be used to assess cancer risk management and prevention behaviors (e.g., screening, risk-reducing surgery).
Behavioral: Genetics Knowledge
Participants will complete questionnaires at 6-months (+/- 4 weeks) and 12-months (+/- 4 weeks) following their study enrollment. A subset of items (14 of the original 16 items that have relevance to our sample) from the KnowGene scale will be used. This validated scale measures general cancer genetics knowledge (Cronbach's α=0.83)
Behavioral: Modified version of the Acceptability E-scale
A modified version of this validated scale (Cronbach's α=0.76) will be used to measure the extent to which participants perceive the intervention and tele-genetics services to be agreeable and satisfactory.
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| Provider-facilitated cascade testing arm Intervention arm |
Other: Intervention Arm At-risk Relative/ARR Contacts
The participant/proband will pick a date by which they plan to have notified their Arm At-risk Relatives/ARRs of the familial PV and, with reasonable assurance of the proband's intent to outreach to their ARRs, after which the study team may contact these individuals to discuss the familial Pathogenic/likely pathogenic variant/PV and offer study enrollment. Research staff will contact ARRs by a combination of phone/email/text using the contact information for these relatives provided by the proband.
Behavioral: Multidimensional Impact of Cancer Risk Assessment questionnaire
Participants will complete questionnaires at 6-months (+/- 4 weeks) and 12-months (+/- 4 weeks) following their study enrollment. This validated scale measures adverse emotional reactions, and includes three subscales that measure Uncertainty, Distress, and Positive Experiences in response to genetic test results (Cronbach's α≥0.75 for each subscale).
Other Names:
Behavioral: Satisfaction with Decision Scale
Participants will complete questionnaires at 6-months (+/- 4 weeks) and 12-months (+/- 4 weeks) following their study enrollment. This validated scale measures satisfaction with healthcare decisions (Cronbach's α=0.88), and will be used to assess satisfaction with the decision about undergoing genetic testing for the familial PV or not.
Other Names:
Behavioral: Cancer Prevention Behaviors uptake and intentions
Participants will complete questionnaires at 6-months (+/- 4 weeks) and 12-months (+/- 4 weeks) following their study enrollment. Widely used and validated items derived from the Behavioral Risk Factor Surveillance System and National Health Interview Survey will be used to assess cancer risk management and prevention behaviors (e.g., screening, risk-reducing surgery).
Behavioral: Genetics Knowledge
Participants will complete questionnaires at 6-months (+/- 4 weeks) and 12-months (+/- 4 weeks) following their study enrollment. A subset of items (14 of the original 16 items that have relevance to our sample) from the KnowGene scale will be used. This validated scale measures general cancer genetics knowledge (Cronbach's α=0.83)
Behavioral: Modified version of the Acceptability E-scale
A modified version of this validated scale (Cronbach's α=0.76) will be used to measure the extent to which participants perceive the intervention and tele-genetics services to be agreeable and satisfactory.
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Outcome Measures
Primary Outcome Measures
- Comparison of genetic testing uptake in provider-facilitated cascade testing intervention to the proband-mediated cascade testing control [12 months]
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.
Eligibility Criteria
Criteria
Inclusion Criteria:
Probands
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Current MSK patient
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Received post-test genetic counseling from MSK Clinical Genetics Service within the last 3 months
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25 years of age or older
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Self-reported comprehension of written and verbal English language
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Has at least one ARR who meets criteria for study enrollment (see below)
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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):
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Biological first-, second-, or third- degree relative of enrolled MSK proband
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25 years of age or older
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Resides within the United States
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Self-reported medical insurance which can be in or out of network with MSK
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Self-reported comprehension of written and verbal English language
Exclusion Criteria:
Probands
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Is unwilling or unable to provide informed consent
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Is unwilling or unable to create a MyMSK patient portal account (see section 3.0 on MyMSK patient usage at MSK and CGS)
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Does not have an email address
At-Risk Relatives (ARRs):
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Is unwilling or unable to provide informed consent
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Is unwilling or unable to create a MyMSK patient portal account
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Has previously undergone genetic testing for the familial PV
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Does not have an email address
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Has opted out of study contact
Contacts and Locations
Locations
| Site | City | State | Country | Postal Code | |
|---|---|---|---|---|---|
| 1 | Memorial Sloan Kettering Basking Ridge (Limited Protocol Activities) | Basking Ridge | New Jersey | United States | 07920 |
| 2 | Memorial Sloan Kettering Monmouth (Limited Protocol Activities) | Middletown | New Jersey | United States | 07748 |
| 3 | Memorial Sloan Kettering Bergen (Limited Protocol Activity) | Montvale | New Jersey | United States | 07645 |
| 4 | Memorial Sloan Kettering Suffolk - Commack (Limited Protocol Activities) | Commack | New York | United States | 11725 |
| 5 | Memorial Sloan Kettering Westchester (Limited Protocol Activities) | Harrison | New York | United States | 10604 |
| 6 | Memorial Sloan Kettering Cancer Center | New York | New York | United States | 10021 |
| 7 | MSK at Ralph Lauren (Limited Protocol Activities) | New York | New York | United States | 10035 |
| 8 | Memorial Sloan Kettering Nassau (Limited Protocol Activity) | Uniondale | New York | United States | 11553 |
Sponsors and Collaborators
- Memorial Sloan Kettering Cancer Center
Investigators
- Principal Investigator: Kenneth Offit, MD, MPH, Memorial Sloan Kettering Cancer Center
Study Documents (Full-Text)
None provided.More Information
Additional Information:
Publications
None provided.- 22-023