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Parental Perspectives on Pediatric Genomic Testing, Research, and Data Management in a Multicultural Population

Ethical Legal Social Issues (ELSI) Public Health and Policy
  • Primary Categories:
    • ElSI Ethics Legal and Social Issues
  • Secondary Categories:
    • ElSI Ethics Legal and Social Issues
Introduction:
In this precision medicine era, racial/ethnic disparities in genomic research participation are exacerbating inequities in health outcomes. Achieving diverse participation in genomic clinical testing and research may require new paradigms to address the privacy and ownership concerns of historically disadvantaged populations. These concerns are especially complicated in the pediatric setting, where parents’ decisions impact children throughout their life course. We sought to explore parents’ perspectives and concerns regarding (a) whole genome sequencing for clinical care and research, (b) genomic data privacy and ownership, (c) control of data use and sharing, (d) static versus dynamic consenting models, and (e) inclusion of children in decision-making.

 

Methods:
This was an exploratory qualitative pilot study utilizing parent focus groups. Participants were recruited from the urgent care and genetics clinic at an urban quaternary children’s hospital. Parents 18 years of age and older who could read and speak in English or Spanish were included. Focus groups were conducted virtually in both English and Spanish and included basic education on genomic testing and research. Parents completed a survey of sociodemographic information and a 10-item validated measure of trust in medical research. Focus groups were recorded and transcribed. Applied thematic analysis was used to identify common themes as well as nuanced differences in their perspectives and preferences.

Results:
Twenty-five participants completed both the parent survey and focus group. Sixteen participants were English-speaking.  Nine participants were Spanish-speaking. The average age was 38 years old. 80% of participants self-reported Hispanic/Latinx ethnicity, 16% White or European-American, 2% Native American or Alaska Native, and 2% Asian or Asian-American. The participants’ education levels included 32% with a high school diploma, 12% with some college but no degree, 12 % with an associate degree, and 8 % with a master’s degree. Seventeen participants had children with a genetic diagnosis, four had children without one, and four participants were unsure. Most parents expressed high levels of trust in medical professionals and researchers. They shared positive attitudes toward clinical testing (e.g. “more information is better”) and altruistic motives toward research participation. 100% of parents wanted to control decisions about research use of their child's genomic information and the majority preferred dynamic consent (i.e., to be asked permission for each separate use of their child’s data). Parents who were comfortable with broad (static) research consent still preferred to be informed about future studies and the results of research using their child's genomic data. A minority of parents expressed concerns about privacy and potential misuse including disability bias and discrimination. Parents shared mixed attitudes and varied acceptability of commercial entities profiting from their child’s genomic data. Most parents considered including children as soon as they could understand the genetic testing implications and participate in the decision-making process.

 

Conclusion:
In a diverse group of parents, we found high levels of trust in medical professionals, a positive attitude toward research participation, a preference for dynamic consent, and mixed perspectives on commercial entities benefiting from the use of children’s genetic data. Strengths of our approach include the qualitative design allowing for a nuanced and complex understanding of parent perspectives around the emerging topic of control of pediatric genomic data, and attention to including parents of children with and without genetic disorders. For this pilot study, limitations include a small sample size and potentially limited generalizability. Next steps will include focus groups and interviews with parents from additional recruitment sites to test and refine initial findings. These results will inform development of survey tools, educational materials, and platforms to enable genomic research participation for diverse parents and pediatric patients.

 

Agenda

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