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The Effect of BabySeq on Pediatric and Genomic Research—More Than Baby Steps

The Effect of BabySeq on Pediatric and Genomic Research—More Than Baby Steps Opinion EDITORIAL The Effect of BabySeq on Pediatric and Genomic Research— More Than Baby Steps Beth A. Tarini, MD, MS 1 1 In this issue of JAMA Pediatrics, Pereira et al report on a siz- Of note, Pereira et al report that the control group re- able group of healthy newborns screened with whole-exome ceived standard of care; that is a misnomer. It is not standard sequencing (WES) shortly after birth whose world—and the of care in the US for parents of healthy newborns to receive a world of their parents—did not end in psychological and detailed 3-generation pedigree of their newborn and to re- emotional Armageddon (so view that pedigree in person with a genetic counselor and a far). Does this mean that we physician. This detail is important because control groups that Related article are ready to offer WES to receive more than the standard of care increase a study’s risk each of the 4 million infants born annually in the US? No. of producing a false-negative result. In this case, that concern Does it mean that we have made a critical first step in under- is tempered by the lack of elevated scores in the control http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png JAMA Pediatrics American Medical Association

The Effect of BabySeq on Pediatric and Genomic Research—More Than Baby Steps

JAMA Pediatrics , Volume 175 (11) – Nov 23, 2021

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Publisher
American Medical Association
Copyright
Copyright 2021 American Medical Association. All Rights Reserved.
ISSN
2168-6203
eISSN
2168-6211
DOI
10.1001/jamapediatrics.2021.2826
Publisher site
See Article on Publisher Site

Abstract

Opinion EDITORIAL The Effect of BabySeq on Pediatric and Genomic Research— More Than Baby Steps Beth A. Tarini, MD, MS 1 1 In this issue of JAMA Pediatrics, Pereira et al report on a siz- Of note, Pereira et al report that the control group re- able group of healthy newborns screened with whole-exome ceived standard of care; that is a misnomer. It is not standard sequencing (WES) shortly after birth whose world—and the of care in the US for parents of healthy newborns to receive a world of their parents—did not end in psychological and detailed 3-generation pedigree of their newborn and to re- emotional Armageddon (so view that pedigree in person with a genetic counselor and a far). Does this mean that we physician. This detail is important because control groups that Related article are ready to offer WES to receive more than the standard of care increase a study’s risk each of the 4 million infants born annually in the US? No. of producing a false-negative result. In this case, that concern Does it mean that we have made a critical first step in under- is tempered by the lack of elevated scores in the control

Journal

JAMA PediatricsAmerican Medical Association

Published: Nov 23, 2021

References