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

Stacey Pereira; Amanda M Gutierrez; Jill Oliver Robinson; Kurt D Christensen; Casie A Genetti; Carrie L Blout Zawatsky; Rebecca L Hsu; Bethany Zettler; Melissa Kurtz Uveges; Richard B Parad; Alan H Beggs; Ingrid A Holm; Robert C Green; Amy L McGuire; BabySeq Project Team

doi:10.1016/j.gim.2022.100002

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

Genet Med. 2023 Mar;25(3):100002. doi: 10.1016/j.gim.2022.100002. Epub 2022 Dec 20.

Authors

Affiliations

¹ Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX. Electronic address: spereira@bcm.edu.
² Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX.
³ PRecisiOn Medicine Translational Research (PROMoTeR) Center, Department of Population Medicine at Harvard Pilgrim Health Care Institute, Boston, MA; Department of Population Medicine, Harvard Medical School, Boston, MA.
⁴ Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA.
⁵ Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA; Medical and Population Genetics, The Broad Institute, Cambridge, MA; Brigham and Women's Hospital and the Harvard T.H. Chan School of Public Health, Ariadne Labs, Boston, MA; The MGH Institute of Health Professions, Boston, MA.
⁶ Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA.
⁷ Connell School of Nursing, Boston College, Chestnut Hill, MA.
⁸ Department of Pediatrics, Harvard Medical School, Boston, MA; Department of Pediatric Newborn Medicine, Brigham and Women's Hospital, Boston, MA.
⁹ Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA; Harvard Medical School, Boston, MA; The Broad Institute of MIT and Harvard, Cambridge, MA.
¹⁰ Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA; Department of Pediatrics, Harvard Medical School, Boston, MA; Harvard Medical School, Boston, MA; The Broad Institute of MIT and Harvard, Cambridge, MA.
¹¹ Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA; Brigham and Women's Hospital and the Harvard T.H. Chan School of Public Health, Ariadne Labs, Boston, MA; Harvard Medical School, Boston, MA; The Broad Institute of MIT and Harvard, Cambridge, MA.

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: Adult onset; Decision-making; ELSI; Newborn screening; Newborn sequencing.

Publication types

Research Support, N.I.H., Extramural

MeSH terms

Adult
Child
Decision Making
Genetic Testing*
Humans
Infant, Newborn
Motivation
Parenting
Parents*

Abstract

Publication types

MeSH terms

Grants and funding