January 2019, VOLUME 143 / ISSUE Supplement 1
Table of Contents
- Open AccessEthical and Psychosocial Issues in Whole Genome Sequencing (WGS) for NewbornsJohn D. LantosPediatrics Jan 2019, 143 (Supplement 1) S1-S5; DOI: 10.1542/peds.2018-1099B
WGS raises different ethical issues than previous uses of genomics in newborns.
- Open AccessPerceived Benefits, Risks, and Utility of Newborn Genomic Sequencing in the BabySeq ProjectStacey Pereira, Jill Oliver Robinson, Amanda M. Gutierrez, Devan K. Petersen, Rebecca L. Hsu, Caroline H. Lee, Talia S. Schwartz, Ingrid A. Holm, Alan H. Beggs, Robert C. Green, Amy L. McGuire, on behalf of The BabySeq Project GroupPediatrics Jan 2019, 143 (Supplement 1) S6-S13; DOI: 10.1542/peds.2018-1099C
We explore clinicians’ and parents’ baseline attitudes toward and perceptions of the risks, benefits, and utility of newborn GS compared with NBS.
- Open AccessRapid Challenges: Ethics and Genomic Neonatal Intensive CareChristopher Gyngell, Ainsley J. Newson, Dominic Wilkinson, Zornitza Stark, Julian SavulescuPediatrics Jan 2019, 143 (Supplement 1) S14-S21; DOI: 10.1542/peds.2018-1099D
We examine the ethical challenges of RGT in neonatal intensive care, focusing on informed consent, child-caregiver bonding, and distributive justice.
- Open AccessGenomic Sequencing Expansion and Incomplete PenetranceJoseph T.C. ShiehPediatrics Jan 2019, 143 (Supplement 1) S22-S26; DOI: 10.1542/peds.2018-1099E
Genomic sequencing is rapidly impacting diagnostics and research; however, disease penetrance remains a challenge.
- Open AccessChallenging the Current Recommendations for Carrier Testing in ChildrenGrace E. VanNoy, Casie A. Genetti, Amy L. McGuire, Robert C. Green, Alan H. Beggs, Ingrid A. Holm, The BabySeq Project GroupPediatrics Jan 2019, 143 (Supplement 1) S27-S32; DOI: 10.1542/peds.2018-1099F
In this article, we discuss our experience in the BabySeq project and explore the potential benefits, risks, and challenges of returning carrier status results both for the children, their parents, and potential future siblings.
- Open AccessThe False-negative PhenotypeJohn D. LantosPediatrics Jan 2019, 143 (Supplement 1) S33-S36; DOI: 10.1542/peds.2018-1099G
With genomic testing, a test result may seem more valid than phenotypic findings. Thus, instead of false-positive test results, we may have false-negative phenotypes.
- Open AccessReturning a Genomic Result for an Adult-Onset Condition to the Parents of a Newborn: Insights From the BabySeq ProjectIngrid A. Holm, Amy McGuire, Stacey Pereira, Heidi Rehm, Robert C. Green, Alan H. Beggs, and the BabySeq Project TeamPediatrics Jan 2019, 143 (Supplement 1) S37-S43; DOI: 10.1542/peds.2018-1099H
We discuss a case in which a genetic finding for an actionable, adult-onset–only condition was detected in a newborn as part of a genomic sequencing study, highlighting the ethical issues surrounding the return of such finding in a newborn to the parents.
- Open AccessPhysician Communication of Genomic Results in a Diagnostic Odyssey Case SeriesCaryn Kseniya Rubanovich, Cynthia Cheung, Ali Torkamani, Cinnamon S. BlossPediatrics Jan 2019, 143 (Supplement 1) S44-S53; DOI: 10.1542/peds.2018-1099I
In this multiperspective study, we aim to gain further insight into physician communication of patient genome sequencing information.
- Open AccessNeonatologists’ Attitudes About Diagnostic Whole-Genome Sequencing in the NICUBrett Knapp, Carole Decker, John D. LantosPediatrics Jan 2019, 143 (Supplement 1) S54-S57; DOI: 10.1542/peds.2018-1099J
Neonatologists are enthusiastic about diagnostic WGS for newborns who are critically ill, but they have concerns about consent, the interpretation of results, and the clinical utility of such tests.