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.
To read this article in full you will need to make a payment
Purchase one-time access:Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online access
One-time access price info
- For academic or personal research use, select 'Academic and Personal'
- For corporate R&D use, select 'Corporate R&D Professionals'
ACMG Member LoginAre you an ACMG Member? Sign in for online access.
Subscribe:Subscribe to Genetics in Medicine
Already a print subscriber? Claim online access
Already an online subscriber? Sign in
Register: Create an account
Institutional Access: Sign in to ScienceDirect
- Committee on Genetics, American College of Medical Genetics and Genomics Social, Ethical, Legal Issues Committee. Ethical and policy issues in genetic testing and screening of children.Pediatrics. 2013; 131: 620-622https://doi.org/10.1542/peds.2012-3680
- Points to consider: ethical, legal, and psychosocial implications of genetic testing in children and adolescents.Am J Hum Genet. 2015; 97 (Published correction appears in Am J Hum Genet. 2015;97(3):501. https://doi.org/10.1016/j.ajhg.2015.05.022): 6-21
- Genetic testing in asymptomatic minors: recommendations of the European Society of Human Genetics.Eur J Hum Genet. 2009; 17: 720-721https://doi.org/10.1038/ejhg.2009.26
- Genetic testing of minors for adult-onset conditions. National Society of Genetic Counselors. Published.https://www.nsgc.org/Policy-Research-and-Publications/Position-Statements/Position-Statements/Post/genetic-testing-of-minors-for-adult-onset-conditionsDate: 2018Date accessed: August 29, 2022
- Genetic testing of children. American Medical Association Code of Medical Ethics.https://www.ama-assn.org/delivering-care/ethics/genetic-testing-childrenDate accessed: August 29, 2022
- Freedom and Fulfillment: Philosophical Essays.Princeton University Press, 1992
- Predictive genetic testing in minors for late-onset conditions: a chronological and analytical review of the ethical arguments.J Med Ethics. 2012; 38: 519-524https://doi.org/10.1136/medethics-2011-100055
- Children’s decision-making involvement about research participation: associations with perceived fairness and self-efficacy.J Empir Res Hum Res Ethics. 2017; 12: 87-96https://doi.org/10.1177/1556264617696921
- ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.Genet Med. 2013; 15 (Published correction appears in Genet Med. 2017;19(5):606. https://doi.org/10.1038/gim.2013.73): 565-574https://doi.org/10.1038/gim.2013.73
- Parents perspectives on whole genome sequencing for their children: qualified enthusiasm?.J Med Ethics. 2017; 43: 535-539https://doi.org/10.1136/medethics-2016-103564
- Parental views on expanded newborn screening using whole-genome sequencing.Pediatrics. 2016; 137: S36-S46https://doi.org/10.1542/peds.2015-3731H
- Parents, their children, whole exome sequencing and unsolicited findings: growing towards the child’s future autonomy.Eur J Hum Genet. 2021; 29: 911-919https://doi.org/10.1038/s41431-020-00794-6
- Preferences for the return of individual results from research on pediatric biobank samples.J Empir Res Hum Res Ethics. 2017; 12: 97-106https://doi.org/10.1177/1556264617697839
- Parental attitudes and expectations towards receiving genomic test results in healthy children.Transl Behav Med. 2018; 8: 44-53https://doi.org/10.1093/tbm/ibx044
- Postpartum women’s attitudes to disclosure of adult-onset conditions in pregnancy.Prenat Diagn. 2022; 42: 1038-1048https://doi.org/10.1002/pd.6162
- Prenatal whole-exome sequencing: parental attitudes.Prenat Diagn. 2015; 35: 1030-1036https://doi.org/10.1002/pd.4635
- Parents’ attitudes toward pediatric genetic testing for common disease risk.Pediatrics. 2011; 127: e1288-e1295https://doi.org/10.1542/peds.2010-0938
- Parental attitudes, values, and beliefs toward the return of results from exome sequencing in children.Clin Genet. 2014; 85: 120-126https://doi.org/10.1111/cge.12254
- Whole-exome sequencing in pediatrics: parents’ considerations toward return of unsolicited findings for their child.Eur J Hum Genet. 2016; 24: 1681-1687https://doi.org/10.1038/ejhg.2016.100
Miner SA, Similuk M, Jamal L, Sapp J, Berkman BE. Genomic tools for health: secondary findings as findings to be shared. Genet Med. 24(11):2220-2227. https://doi:10.1016/j.gim.2022.07.015
- The BabySeq project: implementing genomic sequencing in newborns.BMC Pediatr. 2018; 18: 225https://doi.org/10.1186/s12887-018-1200-1
- A curated gene list for reporting results of newborn genomic sequencing.Genet Med. 2017; 19: 809-818https://doi.org/10.1038/gim.2016.193
- Interpretation of genomic sequencing results in healthy and ill newborns: results from the BabySeq project.Am J Hum Genet. 2019; 104: 76-93https://doi.org/10.1016/j.ajhg.2018.11.016
- Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project.Genet Med. 2021; 23: 1372-1375https://doi.org/10.1038/s41436-021-01146-5
- Returning a genomic result for an adult-onset condition to the parents of a newborn: insights from the BabySeq project.Pediatrics. 2019; 143: S37-S43https://doi.org/10.1542/peds.2018-1099H
- Saturation in qualitative research: exploring its conceptualization and operationalization.Qual Quant. 2018; 52: 1893-1907https://doi.org/10.1007/s11135-017-0574-8
- Research Methods in Anthropology: Qualitative and Quantitative Approaches.Rowman & Littlefield, 2011
- Perceived benefits, risks, and utility of newborn genomic sequencing in the BabySeq project.Pediatrics. 2019; 143: S6-S13https://doi.org/10.1542/peds.2018-1099C
- Predispositional genome sequencing in healthy adults: design, participant characteristics, and early outcomes of the PeopleSeq Consortium.Genome Med. 2019; 11: 10https://doi.org/10.1186/s13073-019-0619-9
- Responsibility, culpability, and parental views on genomic testing for seriously ill children.Genet Med. 2019; 21: 2791-2797https://doi.org/10.1038/s41436-019-0570-6
- Rethinking the “open future” argument against predictive genetic testing of children.Genet Med. 2019; 21: 2190-2198https://doi.org/10.1038/s41436-019-0483-4
- Effects of genetic risk information on children’s psychosocial wellbeing: A systematic review of the literature.Genet Med. 2010; 12: 317-326https://doi.org/10.1097/GIM.0b013e3181de695c
- The psychological impact of genetic information on children: a systematic review.Genet Med. 2016; 18: 755-762https://doi.org/10.1038/gim.2015.181
- Psychosocial effect of newborn genomic sequencing on families in the BabySeq project: a randomized clinical trial.JAMA Pediatr. 2021; 175: 1132-1141https://doi.org/10.1001/jamapediatrics.2021.2829
- Ethical issues in newborn sequencing research: the case study of BabySeq.Pediatrics. 2019; 144e20191031https://doi.org/10.1542/peds.2019-1031
- Newborn screening—setting evidence-based policy for protection.N Engl J Med. 2005; 353: 867-870https://doi.org/10.1056/NEJMp058060
- Disclosing secondary findings from pediatric sequencing to families: considering the “benefit to families.”.J Law Med Ethics. 2015; 43: 552-558https://doi.org/10.1111/jlme.12298
- Alternative arguments for generalizing from data as applied to qualitative research.Educ Res. 1993; 22: 16-23https://doi.org/10.3102/0013189X022004016
Published online: December 19, 2022
Accepted: December 15, 2022
Received in revised form: December 13, 2022
Received: September 2, 2022
Robert C. Green and Amy L. McGuire contributed equally.
© 2022 American College of Medical Genetics and Genomics. Published by Elsevier Inc. All rights reserved.