Date of Degree
Lisa Schwartz, Ed.D., M.S.
Medically-actionable secondary genomic findings (SF); Communication; Family
Background: Medically-actionable secondary genomic findings (SF) can be life- preserving or life-prolonging for recipients but this benefit can only extend to family members if this information is shared with relatives. How SF recipients communicate this important genetic information with relatives, barriers and facilitators to this process, and SF recipients’ lived experiences in communicating about their results over time remain largely unknown. Family communication is required for relatives of SF recipients to access cascade testing and the potential benefits of enhanced screening and management. Applying behavioral and implementation science theories and providing rich and deep descriptions of SF recipients’ lived experiences in sharing their results with relatives may lay the foundation for the development of future studies of interventions to optimize this process.
Objective: The purpose of this study was to describe SF recipients’ lived experience of sharing their results with family members and characterize self-reported determinants of this process.
Methods: This multimethod study was conducted in two Phases. In Phase 1, existing data from interviews of SF recipients was analyzed to characterize self-reported determinants of family communication. The COM-B (Michie et al., 2014) was employed as the theoretical framework for the thematic analysis of existing data to describe SF recipients’ capability, opportunity, and motivation to share their results with their relatives. A novel interview guide based on this analysis was also developed in Phase 1. In Phase 2 purposive sampling to emphasize diversity of family communication experiences was employed to conduct novel phenomenological interviews (Moustakas, 2011) with SF recipients to develop a deeper understanding of their lived experiences of sharing their results with their relatives over time. These data were also thematically analyzed and coded to describe textural and structural elements of the described lived experiences. A second coder, bracketing, and member-checking were employed to enhance trustworthiness of the data.
Results: A codebook mapped to the COM-B constructs of Capability, Opportunity, and Motivation was developed to analyze existing interview transcripts from 40 participants in Phase 1 of the study. Over a quarter of participants (n=13) demonstrated poor or uncertain knowledge (Capability) of their SF. Interpersonal and social factors affecting family communication (Social Opportunity) were described by 32 participants and over half of participants (n=22) described emotional closeness as a facilitator of family communication. Physical proximity and frequency of contact (Physical Opportunity) were also cited as determinants of family communication. Participants commonly discussed a desire to help relatives as a Reflective Motivator of family communication, and many also described worry or concern about how relatives might react to their sharing their SF (Automatic Motivation). Purposive sampling was used to assemble a cohort of 11 Phase 2 participants, and analysis of the novel phenomenologic interviews that characterized this Phase extended and deepened some Phase 1 findings. Two major themes emerged from analysis of Phase 2 data: 1) the experience of family communication of SF is one that engenders personal reflection and emotional responses, and 2) family communication of SF is strongly influenced by existing family dynamics. For Phase 2 participants the essential experience of sharing their SF with relatives was analogous to giving each family member an important and valuable gift; sharing SF information was a personal and loving act, and they were very invested in, and affected by, how relatives received it.
Discussion: This study’s theory-informed approach demonstrated key ways family communication of SF parallels what is known about how families communicate about genetic information generally and suggests some possible differences that may form intervention development for this understudied population. SF recipients may lack both knowledge of the medical implications of their findings and a shared familial understanding of how family health history may be related to their finding. As well, while SF recipients may be motivated to share their findings with relatives to improve their care, they are tasked with sharing unexpected medical information within complex existing family systems. The interplay of these factors suggests that interventions designed to optimize family communication of SF may need to address both gaps in knowledge and understanding as well as communication strategies employed in family systems.
Sapp, Julie Chevalier, "Communicating Unexpected Genetic Information with Family Members: A Multimethod Study of Secondary Findings Recipients" (2023). Doctor of Philosophy in Translational Health Sciences Dissertations. Paper 25.