Journal article

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

Lilian Downie, Jane Halliday, Sharon Lewis, Sebastian Lunke, Elly Lynch, Melissa Martyn, Clara Gaff, Anna Jarmolowicz, David J Amor



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 newborns when offered tiered genomic information from exome sequencing. METHODS: This population-derived cohort comprised infants with congenital deafness. Parents were offered exome sequencing and choice regarding the scope of analysis. Options were choice A, diagnostic analysis only; choice B, diagnostic analysis plus childhood-onset diseases with medical actionability; or choice C, diagnostic analysis plus childhood-onset diseases with or without medical act..

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Funding Acknowledgements

We thank Ivan Maccioca, Gemma Brett, Yael Prawer, Belinda Creighton, Samantha Ayres, Yana Smagarinsky, Ella Wilkins, Jane Wallace, Lisette Curnow, Anaita Kanga-Parabaita, Rigan Titherleigh, Matthew Hunter, Jonathan Berg, Cynthia Powell, and Heidi Rehm. The study was funded by the State Government of Victoria (Department of Health and Human Services) and the ten member organizations of the Melbourne Genomics Health Alliance.