Dr Fran Maher1, Dr Valerie Sung1,2, Dr Lilian Downie1,3,4, Elly Lynch1
1Melbourne Genomics Health Alliance, Parkville, VIC Australia,
2The Royal Children’s Hospital, Parkville, VIC Australia,
3Victorian Clinical Genetics Service, Parkville, VIC Australia,
4Murdoch Children’s Research Institute, Parkville, VIC Australia
Did you know that there are more than 100 genes that can cause hearing impairment, and that genetic variants are thought to cause more than 50% of all congenital hearing impairment?
Genomics has the potential to improve diagnostic rates of rare and difficult to diagnose conditions. Identifying gene variants associated with hearing impairment can improve early diagnosis, offer prognostic information and enable early interventions.
The Congenital Deafness clinical flagship project run by Melbourne Genomics Health Alliance, uses whole exome sequencing to identify the genetic variants causing hearing impairment in newborns, aiming for increased diagnosis rates and early therapeutic intervention.
“What is an exome?” I hear you say. Come to this workshop and learn from the experts involved in the Flagship to learn about exomes and how genomics applies to your practice today.
The workshop has been designed specifically for clinicians and trainees practising in hearing impairment to upskill in the rapidly growing area of clinical genomics and to increase your understanding of genomics in clinical practice. Group work on case studies is facilitated by experts in the use of clinical genomics in hearing impairment.
The workshop includes a short presentation to introduce genomics and how it is applied in the clinic, followed by small-group, case-based discussions to develop your practical skills for clinical application, such as ordering appropriate tests and interpreting genomic test reports. The ethical, legal and social implications of genomic testing will also be addressed.
Through the workshop you will learn the general principles of genomics, including test types, test limitations, interpreting reports, and the role of clinical geneticists and genetic counsellors.
The Melbourne Genomics Health Alliance team presenting the workshop includes Dr Valerie Sung, Consultant Paediatrician and Director of the Caring for Hearing Impaired Children Clinic at the Royal Children’s Hospital in Melbourne, Dr Lilian Downie, Genetics Fellow at the Victorian Clinical Genetics Service, Elly Lynch, Genetic Counsellor and Clinical Projects Manager at Melbourne Genomics Health Alliance, all of whom have extensive experience in the application of genomic testing in the clinic. The clinical team is joined by Dr Fran Maher, Education Officer with Melbourne Genomics.