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

Abstract

Purpose: Genomic newborn screening raises practical and ethical issues.Evidence is required to build a framework to introduce this technology safelyand effectively. We investigated the choices made by a diverse group of parentswith newborns when offered tiered genomic information from exomesequencing. Methods: This population-derived cohort comprised infants with congenitaldeafness. Parents were offered exome sequencing and choice regarding the scopeof analysis. Options were choice A, diagnostic analysis only; choice B,diagnostic analysis plus childhood-onset diseases with medical actionability; orchoice C, diagnostic analysis plus childhood-onset diseases with or withoutmedical actionability. Results: Of the 106 participants, 72 (68%) consented to receive additionalfindings with 29 (27.4%) selecting choice B and 43 (40.6%) opting for choice C.Family size, ethnicity, and age of infant at time of recruitment were thesignificant predictors of choice. Parents who opted to have additional findingsanalysis demonstrated less anxiety and decisional conflict. Conclusions: These data provide evidence from a culturally diverse populationthat choice around additional findings is important and the age of the infantwhen this choice is offered impacts on their decision. We found no evidence thatoffering different levels of genomic information to parents of newborns has anegative psychological impact.