Evaluating Cascade Communication Methods

Recruiting

• Conditions: BRCA2 Mutation; BRCA1 Mutation

• Registration Number: NCT04428736
• Lead Sponsor: University of Pennsylvania

Brief Summary

Hereditary cancer programs face challenges with respect to effective communication of genetic test results within families and uptake of genetic testing by relatives. This study aims to determine if a "disclosure toolkit" provided to the index participant (carrier of cancer risk gene mutation) contributes to sharing genetic test results with relatives, if there are preferred disclosure methods, and whether toolkit use contributes towards at-risk relatives pursuing genetic testing.

Detailed Description

The identification of a single individual with a highly penetrant cancer susceptibility gene mutation can have far reaching implications for at-risk relatives in that other family members can engage in highly informative and predictive genetic testing for cancer predisposition. Family members who carry the familial cancer gene mutation are able to receive personalized cancer risk management based upon their positive test result, while those family members who test negative can generally be downgraded to follow cancer screening guidelines for the general population, barring additional familial or personal risk factors for developing cancer. Though crucial for stratifying and managing risks for relatives, familial testing, otherwise known as cascade testing, is not always successfully implemented within and across families. On a clinical basis the proband, also known as the index mutation carrier, is generally encouraged to share results with family members in order to promote their engagement in genetic counseling and testing. Despite the provision of results and a tailored letter for family members, hereditary cancer programs routinely face challenges with respect to communication of results within families and uptake of testing by relatives. Research on family communication and cascade testing substantiates this experience as previous studies have demonstrated suboptimal uptake of cascade testing in families, despite its importance for defining and managing cancer risk (Barsevicket al,2008; Daly et al, 2016). The purpose of our research study is to determine whether the provision of multiple communication tools and platforms will improve communication between probands and at-risk relatives, and if so, which communication method is the most useful to probands in communicating their results and to relatives in coming to a decision regarding genetic counseling and testing. Through the study, probands will be provided with a three-part toolkit that includes a letter, website, and a chatbot known as "GIA" (for"Genetic Information Assistant"). Though the challenges/barriers of cascade testing are well-documented, there are scant reports of follow-up with relatives. Our study allows direct contact with family members (by way of proband consent) to assess motivations and barriers to genetic testing by family members.

Study Timeline

• Study Start: 2020-02-19
• Study First Submitted: 2020-05-22
• Study First Submitted QC: 2020-06-09
• Study First Posted: 2020-06-11
• Status Verified: 2024-04
• Last Update Submitted: 2024-04-29
• Last Update Posted: 2024-04-30
• Primary Completion: 2024-12-31
• Study Completion: 2024-12-31

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 100

Inclusion Criteria

• 18 years of age and older
• Proband must be carrier of a high risk cancer predisposition gene
• Relative must be established relative of respective proband participant and deemed "at-risk" for familial gene mutation and eligible genetic testing candidate as per study team determination
• Participants must be able to understand and read English
• Participants must be able to provide informed verbal or written consent

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Exclusion Criteria

• <18 years of age
• Individuals who are mutation negative for high risk cancer predisposition genes
• Individuals who are carriers of a variant of uncertain significance in any gene
• Individuals who test positive for more than 1 high risk cancer predisposition gene
• Individuals who cannot speak and read English
• Individuals who do not have any at-risk relatives (eligible for familial gene mutation testing) as per study team determination
• Major psychiatric illness or cognitive impairment that in the judgement of the study investigators or study staff would preclude study participation
• Any patients who are unable to comply with the study procedures as determined by the study investigators or study staff
• No available family members for cascade opportunity (adoption, estrangement, etc.)

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Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Impact of Toolkit use on at-risk relatives pursuing genetic testing	1 year	Determine if a "Disclosure Toolkit" impacts the rate of genetic testing by at-risk relatives in comparison to rates of genetic testing by relatives consistently reported in the literature.
Impact of Toolkit use on sharing genetic test results with at-risk relatives	1 year	Determine if a "Disclosure Toolkit" contributes to participant sharing of genetic test result with at-risk relatives, and if so, which method is most useful for aiding in communication of results and decisions to undergo genetic counseling and testing.

Secondary Outcome Measures

Name	Time	Method
Barriers to sharing genetic test results with at-risk relatives	1 year	Assess possible barriers and/or unforeseen challenges that inhibit optimal sharing of genetic test results with at-risk relatives.
Barriers inhibiting uptake of genetic testing by informed at-risk relatives	1 year	Assess possible barriers and/or unforeseen challenges that inhibit optimal uptake of genetic testing by informed at-risk relatives.

Trial Locations

Locations (1)

Abramson Cancer Center; 🇺🇸 Philadelphia, Pennsylvania, United States