Evaluating Cascade Communication Methods

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.

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

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.)