Abstract
Purpose
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.
Methods
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.
Results
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.
Conclusion
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.
Keywords
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Article info
Publication history
Published online: December 19, 2022
Accepted:
December 15,
2022
Received in revised form:
December 13,
2022
Received:
September 2,
2022
Footnotes
Robert C. Green and Amy L. McGuire contributed equally.
Identification
Copyright
© 2022 American College of Medical Genetics and Genomics. Published by Elsevier Inc. All rights reserved.
