Parents’ decision-making regarding whether to receive adult-onset only genetic findings for their children: Findings from the BabySeq Project

• Published in: Genetics in medicine Vol. 25; no. 3; p. 100002
• Main Authors: Pereira, Stacey, Gutierrez, Amanda M., Robinson, Jill Oliver, Christensen, Kurt D., Genetti, Casie A., Blout Zawatsky, Carrie L., Hsu, Rebecca L., Zettler, Bethany, Uveges, Melissa Kurtz, Parad, Richard B., Beggs, Alan H., Holm, Ingrid A., Green, Robert C., McGuire, Amy L.
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.03.2023
• Subjects: Adult; Adult onset; Child; Decision Making; ELSI; Genetic Testing; Humans; Infant, Newborn; Motivation; Newborn screening; Newborn sequencing; Parenting; Parents; Decision-making; Adult onset; Newborn screening; Newborn sequencing; ELSI
• ISSN: 1098-3600; 1530-0366; 1530-0366
• DOI: 10.1016/j.gim.2022.100002

Most professional guidelines recommend against genetic screening for adult-onset only (AO) conditions until adulthood, yet others argue that there may be benefit to disclosing such results. We explored parents’ decision-making on this issue in the BabySeq Project, a clinical trial of newborn genomic sequencing. We conducted interviews with parents (N = 24) who were given the option to receive actionable AO results for their children. Interviews explored parents’ motivations to receive and reasons to decline AO genetic disease risk information, their decision-making process, and their suggestions for supporting parents in making this decision. Parents noted several motivations to receive and reasons to decline AO results. Most commonly, parents cited early intervention/surveillance (n = 11), implications for family health (n = 7), and the ability to prepare (n = 6) as motivations to receive these results. The most common reasons to decline were protection of the child’s future autonomy (n = 4), negative effect on parenting (n = 3), and anxiety about future disease (n = 3). Parents identified a number of ways to support parents in making this decision. Results show considerations to better support parental decision-making that aligns with their values when offering AO genetic information because it is more commonly integrated into pediatric clinical care.