Talking DNA: the difference genomics makes

Did you know that paediatricians across Australia can now order Medicare funded genomic testing for certain conditions? This change means kids and families have a better chance at getting the answers they need, faster than ever before.

As many families with a child with a suspected rare genetic condition know too well, the search for a diagnosis can be long and frustrating. Advances in technology are providing doctors and scientists with new tools to try and search for answers. One tool shown to increase the chances of finding an answer is genomic testing.

WHAT IS GENOMIC TESTING?

Genomic or DNA testing allows many genes to be looked at it once. Being able to pinpoint the cause of a child’s condition via genomic testing has been shown to yield
a range of potential benefits, including helping guide patient care. This evidence led to genomic testing being funded in Australia for kids under 11 who meet certain clinical criteria.

WHAT DOES THIS MEAN FOR ME AND MY FAMILY?

“As a paediatric doctor and as a parent, genomic testing has the ability to give us answers we really need” – Cara1

A few things are worth emphasising at this point. One, not everyone may want to know the cause of their child’s condition – and that’s perfectly okay. Two, genomic testing is not always the right diagnostic test for your child’s specific circumstances; chat to your paediatrician to see if it might be the right fit for your child and family. Three, many kids unfortunately remain without a diagnosis after genomic testing – for various reasons.

ACCESSING GENOMICS

The ability for paediatricians to order genomic testing is new. Previously families have mainly been referred to clinical genetics services, which can have a very long waiting lists. A study from the University of Melbourne and the Murdoch Children’s Research Institute is working to understand how families’ experiences of this shift in care can be enhanced. Click here to read more about the study or contact PhD student Erin Crellin ([email protected]) if you are interested in getting involved.

By Erin Crellin. PhD student, the University of Melbourne and Murdoch Children’s Research Institute [email protected]

1MELBOURNE GENOMICS (2023). EDWARD’S STORY. MELBOURNEGENOMICS.ORG.AU/NEWS-AND-MEDIA/10-YEARS/EDWARDS-STORY