AACG Oral 7: WHOLE EXOME SEQUENCING IN INFANTS WITH CONGENITAL DEAFNESS

摘要

Background: 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. Aim: To define the genetic etiology of congenital hearing loss, streamline the care of affected children, explore parents' interest in genomic testing, and gain further information on whole exome sequencing. Methods: Whole exome sequencing allows for the sequencing, simultaneously, of all genes known to play a role in hearing loss. Exome sequencing 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. They are informed about (1) the pediatrician-run clinics for children with hearing loss, (2) the VicCHILD databank, and (3) genomic testing. Results: We are currently in the recruitment phase and have identified 56 patients; 18 have consented for genetic testing, 2 have received results, 15 patients are awaiting booked clinic appointments, 5 patients have declined participation, and the remainder are yet to be contacted. Discussion/Conclusion: This research will provide important evidence on the genetic causes of hearing loss and parents preferences when being offered additional findings using next generation sequencing technology.