The majority of congenital and childhood hearing loss has an underlying genetic basis. The most common genetic cause is variants in GJB2, following this, there are over a hundred other causes of genetic hearing loss. Understanding the genetic cause can prevent unnecessary investigation. Furthermore, families value knowing the cause and having information about prognosis and recurrence risk.
Genomic sequencing detects variants in all known hearing loss genes simultaneously from a single sample. Depending on the platform used (exome or genome sequencing) it may or may not detect all the relevant variants for a child with hearing loss. It may also reveal conditions that have health problems other than hearing loss. Ordering genomic testing requires the clinician to understand the variety of possible results and the impact these may have on a family.
With the recent changes in publicly funded testing for children with hearing loss across Australia, it is essential for health professionals to understand the when, how and why of ordering and delivering genetic test results to families.
This 1.5-hour workshop is for delegates to learn about the testing options and requirements of the new Medicare item numbers. This will be facilitated by the Melbourne Genomics Health Alliance and include experts in genetics, genetic counselling and the genetics of deafness. It will involve a combination of teaching and interactive sessions.
The workshop is targeted at medical clinicians (paediatricians, geneticists, otolaryngologists) who deliver medical care to deaf and hard of hearing children, who may order, interpret or require a deeper understanding of genetic testing for childhood hearing loss.
Facilitated by Dr Fran Maher and the Melbourne Genomics Health Alliance
Co-facilitated by Dr Lilian Downie & A/Prof Valerie Sung
