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Pediatrics. 2019 Jan;143(Suppl 1):S27-S32. doi: 10.1542/peds.2018-1099F.

Challenging the Current Recommendations for Carrier Testing in Children.

Author information

1
Division of Genetics and Genomics and The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts.
2
Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, Texas.
3
Departments of Medicine and.
4
Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts; and.
5
The Eli and Edythe L. Broad Institute, Cambridge, Massachusetts.
6
Pediatrics, Harvard Medical School, Boston, Massachusetts.
7
Division of Genetics and Genomics and The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts; ingrid.holm@childrens.harvard.edu.

Abstract

The authors of current professional guidelines generally do not support the return of information about genetic carrier status for infants and children because of a perceived lack of immediate benefit and an abundance of caution regarding potential harm and desire to protect the children's future autonomy. The advent of genomic sequencing, used either as a diagnostic or a screening tool, and the increasing use of this technology in childhood creates the potential for the identification of carrier status in the pediatric period. As part of the BabySeq Project, researchers are exploring the implications of genomic sequencing in both newborns who are healthy and newborns who are sick and developing policies and procedures for the return of carrier status information to the parents and physicians of newborns. In this commentary, we review the history of carrier testing in children and explore the potential benefits, risks, and challenges of returning such results both for the children, their parents, and potential future siblings.

PMID:
30600268
DOI:
10.1542/peds.2018-1099F

Conflict of interest statement

POTENTIAL CONFLICT OF INTEREST: Dr Green is a cofounder, an advisor, and an equity holder in Genome Medical, Inc; the other authors have indicated they have no potential conflicts of interest to disclose.

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