Exploring parental perspectives on pediatric genome testing, research, and data management in a multicultural population - Current data privacy mechanisms (e.g., de-identification, broad consent) may not adequately address concerns about genomic testing for all individuals.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 deploy this technology in pediatrics, we need to understand the range of perspectives on genomic data privacy, ownership, and control held by parents. The proposed project is an exploratory pilot study utilizing focus groups, interviews, and a survey with two specific aims: (1) Explore parent attitudes towards genome sequencing for clinical testing and research with a focus on preferences for genomic data ownership and control, 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 parents from 4 different 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 characteristics and levels of trust in medical researchers. This qualitative work is essential to refine the conceptual framework of genomic dignity to center parents’ concerns and priorities, and will inform development of educational materials, consent tools, and data management platforms that will meet the needs of parents for genomic clinical testing and research participation, furthering our long-term goal to enable lifelong patient-centered genomic medicine in all populations. Modified Narrative Section Because current genomic privacy mechanisms (e.g., de-identification, broad consent) do not adequately address the concerns of some parents related to pediatric genomic testing and research,1-3 some families may not optimally benefit from advances in genomic medicine. To understand the full range of perspectives on genomic data privacy held by parents, this exploratory pilot study will elicit parent attitudes, concerns and preferences related to genomic testing, research, data ownership and management, providing essential data to inform development of educational materials, consent tools, and genomic data management platforms to enable lifelong patient-centered genomic medicine in all populations.
