Articles with "genomic newborn" as a keyword



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Australian healthcare professionals' perspectives on the ethical and practical issues associated with genomic newborn screening

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Published in 2022 at "Journal of Genetic Counseling"

DOI: 10.1002/jgc4.1645

Abstract: Newborn bloodspot screening (NBS) is a successful public health initiative that seeks to identify serious, treatable medical conditions. The increasing use of genomic sequencing (GS) in a wide range of medical settings has reignited the… read more here.

Keywords: practical issues; issues associated; newborn screening; ethical practical ... See more keywords
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Exome sequencing in newborns with congenital deafness as a model for genomic newborn screening: the Baby Beyond Hearing project

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Published in 2020 at "Genetics in Medicine"

DOI: 10.1038/s41436-019-0745-1

Abstract: Purpose Genomic newborn screening raises practical and ethical issues. Evidence is required to build a framework to introduce this technology safely and effectively. We investigated the choices made by a diverse group of parents with… read more here.

Keywords: congenital deafness; exome sequencing; analysis; genomic newborn ... See more keywords