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2018 ; 18
(1
): 225
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The BabySeq project: implementing genomic sequencing in newborns
#MMPMID29986673
Holm IA
; Agrawal PB
; Ceyhan-Birsoy O
; Christensen KD
; Fayer S
; Frankel LA
; Genetti CA
; Krier JB
; LaMay RC
; Levy HL
; McGuire AL
; Parad RB
; Park PJ
; Pereira S
; Rehm HL
; Schwartz TS
; Waisbren SE
; Yu TW
; Green RC
; Beggs AH
BMC Pediatr
2018[Jul]; 18
(1
): 225
PMID29986673
show ga
BACKGROUND: The greatest opportunity for lifelong impact of genomic sequencing is
during the newborn period. The "BabySeq Project" is a randomized trial that
explores the medical, behavioral, and economic impacts of integrating genomic
sequencing into the care of healthy and sick newborns. METHODS: Families of
newborns are enrolled from Boston Children's Hospital and Brigham and Women's
Hospital nurseries, and half are randomized to receive genomic sequencing and a
report that includes monogenic disease variants, recessive carrier variants for
childhood onset or actionable disorders, and pharmacogenomic variants. All
families participate in a disclosure session, which includes the return of
results for those in the sequencing arm. Outcomes are collected through review of
medical records and surveys of parents and health care providers and include the
rationale for choice of genes and variants to report; what genomic data adds to
the medical management of sick and healthy babies; and the medical, behavioral,
and economic impacts of integrating genomic sequencing into the care of healthy
and sick newborns. DISCUSSION: The BabySeq Project will provide empirical data
about the risks, benefits and costs of newborn genomic sequencing and will inform
policy decisions related to universal genomic screening of newborns. TRIAL
REGISTRATION: The study is registered in ClinicalTrials.gov Identifier:
NCT02422511 . Registration date: 10 April 2015.
|*Exome Sequencing
[MESH]
|Family/psychology
[MESH]
|Genetic Counseling
[MESH]
|Genetic Predisposition to Disease/psychology
[MESH]