Whole Exome Sequencing in infants with congenital hearing loss

Dr Lilian Downie1,2,3,4,5, Professor David Amor1,2,3,4,5, Professor Jane  Halliday2,4, Dr  Rachel Burt2,4

1Victorian Clinical Genetics Service, Parkville , Australia,

2Murdoch Children’s Research Institute , Parkville , Australia,

3Royal Children’s Hospital , Parkville , Australia,

4University of Melbourne , Parkville , Australia,

5Melbourne Genomics Health Alliance, Parkville , Aus

The Melbourne Genomics Health Alliance is working to establish a system for rolling out genomic medicine in Victoria. The Congenital Deafness project is offering genomic testing to families who have a child with moderate or worse bilateral hearing loss born in 2016 or 2017.

We expect that about half of these children will have a genetic cause for their hearing loss. The test we are offering is Whole Exome Sequencing (WES). This allows for the sequencing, simultaneously, of all genes known to play a role in hearing loss.  WES generates data for all known disease-causing genes, not just those for hearing loss. We are also offering families the opportunity to receive results about genes that cause diseases other than hearing loss that present in childhood.  Families who have an eligible child are identified by the Victorian Infant Hearing Screening Program (VIHSP). They are informed about (i) the paediatrician-run clinics for children with hearing loss, (ii) the VicChild databank, and (iii) genomic testing.

Using the existing screening program and VicChild databank has allowed this project to be rolled out smoothly and efficiently. We are currently in the recruitment phase and have identified 56 patients; 18 have consented for genetic testing, 15 patients are awaiting booked clinic appointments, 5 patients have declined participation and the remainder are yet to be contacted. The aim is to define the genetic aetiology of congenital hearing loss, streamline the care of affected children, explore parents’ interest in genomic testing and gain further information on WES.


Lilian is a genetics fellow at the VCGS. She is currently coordinating the team for the Melbourne Genomics Health Alliance Congenital Deafness Project as well as completing a Masters of Philosophy at the University of Melbourne.