A protocol for whole-exome sequencing in newborns with congenital deafness: a prospective population-based cohort

摘要: Introduction The aetiology of congenital hearing loss is heterogeneous, and in many infants a genetic cause suspected. Parents face diagnostic odyssey when searching for their infant’s loss. Through the Melbourne Genomics Health Alliance, prospective cohort will be offered whole-exome sequencing (WES) with targeted analysis conjunction chromosome microarray to determine causes also opportunity receive additional results from WES. Methods Eligible identified through Victorian Infant Hearing Screening Program an appointment paediatrician-run clinic, genetics assessment enrolment Childhood Impairment Longitudinal Databank. If parents consent WES, genes causing deafness analysed they can choose obtain findings. For component, modified laboratory protocol has been designed reporting absence relevant phenotype. Parents’ experience being WES evaluated using surveys. Discussion This project provide descriptive this may data on genotype–phenotype correlations. Additionally, choices regarding findings analysed. Participants represent diverse cross section population, increasing ability generalise beyond study group. Evaluation surveys allow preferences around counselling, usefulness decision aid adequacy information provision.