Exome sequencing in newborns with congenital deafness as a model for genomic newborn screening: the Baby Beyond Hearing project.

Lilian DownieJane HallidaySharon LewisSebastian LunkeElly LynchMelissa MartynClara GaffAnna JarmolowiczDavid J Amor

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)

These data provide evidence from a culturally diverse population that choice around additional findings is important and the age of the infant when this choice is offered impacts on their decision. We found no evidence that offering different levels of genomic information to parents of newborns has a negative psychological impact.

Keyphrases

copy number
pregnant women
gestational age
decision making
low birth weight
cord blood
quality improvement
electronic health record
single cell
health information
hearing loss
sleep quality
data analysis