Exploring parental perspectives on pediatric genome testing, research, and data management in a multicultural population

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Project Summary/Abstract Current genomic privacy mechanisms (e.g., de-identification, broad consent) do not adequately address the concerns of historically disadvantaged populations related to genomic testing and research.1-3 These issues are amplified in pediatric contexts as parental decisions about genomic testing and research have potential impact on children’s privacy and health over their entire lifespan.4,5 We have developed paradigm-shifting software that encrypts genomic data at the time of sequencing, providing complete control to the individual over when, how much, to whom and for how long their genomic data can be accessed, in support of genomic dignity. In order to most effectively and equitably deploy this technology in pediatrics, we need to understand the range of perspectives on genomic data privacy, ownership, and control held by parents from diverse sociodemographic backgrounds. The proposed project is an exploratory pilot study utilizing focus groups, interviews, and a survey in a diverse population, with two specific aims: (1) Explore attitudes towards genome sequencing for clinical testing and research with a focus on preferences for genomic data ownership and control in a diverse population of parents, and (2) evaluate parent preferences for (a) static versus dynamic consent models, (b) direct versus indirect (proxy) management of genomic data, and (c) decision-making involvement of children and adolescents. We will recruit an ethnically, linguistically, socioeconomically diverse group of parents reflective of our patient demographics (65% Hispanic/Latino, 5% African American, 4% Asian; 74% publicly insured). Recruitment will take place in 4 clinical contexts in order to capture a range of perspectives and lived experiences: (1) parents expecting the birth of a child with 1 or more congenital conditions, (2) parents of infants in the Newborn Infant Critical Care Unit, (3) parents of children seen in the genetics clinic who have undergone or are undergoing genetic testing, and (4) parents of healthy children who have not undergone genetic testing. Parents will complete a validated measure of trust in medical researchers and will participate in focus group discussions and interviews in English and Spanish. Transcripts will be coded and analyzed using applied thematic analysis to identify themes pertaining to the domains of interest. Specific preferences will be assessed in light of participant sociodemographics and levels of trust in medical researchers. This qualitative work is essential to refine the conceptual framework of genomic dignity to center diverse parents’ concerns and priorities, and will inform development of educational materials, consent tools, and data management platforms that will meet the needs of diverse populations for genomic clinical testing and research participation, furthering our long-term goal to enable lifelong patient-centered genomic medicine in all populations.