Given that pediatric genomic sequencing (GS) may have implications for the health and well-being of both the child and family, a clearer understanding of the key drivers of the utility of GS from the family perspective is needed. The purpose of this study is to explore what is important to caregivers of pediatric patients regarding clinical GS, with a focus on family-level considerations. We conducted semi-structured interviews with caregivers (n = 41) of pediatric patients who had been recommended for or completed GS that explored the scope of factors caregivers considered when deciding whether to pursue GS for their child. We analyzed the qualitative data in multiple rounds of coding using thematic analysis. Caregivers raised important family-level considerations, in addition to those specifically for their child, which included wanting the best chance at good quality of life for the family, the ability to learn about family health, the impact on the caregiver’s well-being, privacy concerns among family members, and the cost of testing to the family. We developed a framework of key drivers of utility consisting of four domains that influenced caregivers’ decision making: underlying values, perceived benefits, perceived risks, and other pragmatic considerations regarding GS. These findings can inform measurement approaches that better capture the utility of pediatric GS for families and improve assessments of the value of clinical GS.
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The data that support the findings of this study are available from the corresponding author upon reasonable request.
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Texas Children’s Hospital Genetics Clinic 2020 [Available from: https://www.texaschildrens.org/departments/genetics.
Dr. Smith is supported by the National Human Genome Research Institute of the National Institutes of Health under Award Number K99HG011491. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.
The authors declare no competing interests.
Approval to conduct this human subjects research was obtained by the Baylor College of Medicine Institutional Review Board. Verbal informed consent was obtained from all participants for being included in the study.
Publisher’s note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
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Smith, H.S., Bonkowski, E.S., Deloge, R.B. et al. Key drivers of family-level utility of pediatric genomic sequencing: a qualitative analysis to support preference research. Eur J Hum Genet (2022). https://doi.org/10.1038/s41431-022-01245-0