With improving technology and ever-growing developments in genetics, the significance of genetic testing is becoming ever more salient. In many of our communities, where some genetic disorders are particularly prevalent and impact quality of life, the ability to test and evaluate these risks becomes pertinent.
AIMA Victoria held an educational event on genomic testing on Friday 20 September 2024 at Manara restaurant in Melbourne designed to provide an overview of the current status of genomic medicine and carrier testing – what is available, how it is used, and why it is important for our community.
The event featured two speakers, Dr Fahaz Nazer, a clinical genetics fellow at Monash Health, and Mrs Essra Bartlett, a scientist and currently Team Lead in Germline Genetics (Molecular) at Genomic Diagnosis.
The audience learnt about the science behind chromosomal microarrays, the significance of long contiguous stretches of homozygosity (LCSH) and the genetic impact of consanguinity.
It was made clear that reproductive carrier screening is available to the public, with a full Medicare rebate offered for testing of Fragile X Syndrome, Spinal Muscular Atrophy (SMA) and Cystic Fibrosis. A rebate is also available for extended and comprehensive carrier screening.
An extensive discussion took place among the speakers and attendees, exploring the pervasiveness of consanguinity and how carrier screening and an understanding of genetic risk can help guide members of the community prior to marriage and childbearing.
The evening was both incredibly insightful and a great opportunity for new networks to be formed.
AIMA Victoria is look forward to seeing everyone at the next event in November.