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

Lilian Downie1,2,3,4, Jane L Halliday2,4, Rachel A Burt2,4

  • 1Victorian Clinical Genetics Services, Victoria, Melbourne, Australia.

BMJ Paediatrics Open
|April 12, 2018
PubMed

Insights

This study uses whole-exome sequencing (WES) to identify genetic causes of congenital hearing loss in infants. It also explores parental preferences for receiving additional genetic findings from the WES test.

Area of Science:

  • Genetics
  • Paediatrics
  • Genomic Medicine

Background:

  • Congenital hearing loss has a heterogeneous aetiology, with genetic factors frequently suspected.
  • Parents often experience a prolonged diagnostic journey to determine the cause of their infant's hearing loss.

Purpose of the Study:

  • To determine the genetic causes of congenital hearing loss in infants using whole-exome sequencing (WES) and chromosome microarray.
  • To evaluate parental choices regarding receiving additional findings from infant WES.
  • To assess parental experiences with WES for diagnosing congenital hearing loss.

Main Methods:

  • Prospective cohort study identifying infants through the Victorian Infant Hearing Screening Program.
  • Infants offered paediatrician and genetics assessment, with consent for WES and chromosome microarray.
  • Surveys used to evaluate parents' experience and preferences for counselling and information provision.

Main Results:

  • The project will provide a descriptive analysis of the genetic aetiology of congenital hearing loss.
  • Potential data on genotype-phenotype correlations will be generated.
  • Parental choices regarding additional genetic findings will be analyzed.

Conclusions:

  • This research will enhance understanding of the genetic basis of congenital hearing loss.
  • It will inform genetic testing strategies and parental support in diagnosing hearing impairment.
  • The study aims to generalize findings across a diverse population, improving diagnostic yield and patient care.
Abstract

Keywords:
DeafnessGeneticsScreening

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