RNA diagnostic testing: Helping families find answers

A new test for genetic diseases is successfully providing the sought-after answers for families of sick children. RNA diagnostic testing has already achieved a diagnosis for more than 70 families, with hopes it can be implemented in everyday clinical practice.

Current methods using DNA sequencing are only able to diagnose half of the children and families with suspected genetic disorders. Professor Sandra Cooper from Kids Neuroscience Centre (KNC) at Kids Research says the importance of a diagnosis cannot be overstated, so she developed standardised RNA testing procedures to deliver patients with a precise molecular diagnosis.

"I’m now at the next frontier of genomic medicine, the RNA. The RNA is the voice of the DNA and what my team has found is if the answer is not in the DNA, about 90 per cent of the time it’s in the RNA."

Prof Cooper recruited 74 families across Australia and New Zealand to take part in the pioneering study. The team of researchers, supported by KNC, the University of Sydney and Children’s Medical Research Institute (CMRI), conducted RNA analysis on patient samples including blood, urine and skin to identify the genetic variation responsible for their condition.

"To learn what has caused the disorder in their child, or perhaps what caused the premature death of a baby, and helping parents make informed decisions about what to do next is tremendously valuable," she said.

This delivered amazing results for the families, with 75 per cent receiving a diagnosis, 41 per cent of those used for newborn disease prevention, while some of the families went on to a clinical trial or a precision treatment. For many families though, the most important thing is being able to put a name to the disorder.

"Every now and then a diagnosis leads to a treatment that works, but this doesn’t always happen. Most of the time it’s about giving families an answer and helping them make decisions moving forward."

Prof Cooper leads SpliceACORD, the Australian Consortium for RNA Diagnostics, with a vision to implement these standardised practices in routine clinical medicine. This study, supported by Sydney Health Partners and Luminesce Alliance and recently published in Genetics in Medicine, brings researchers a step closer to this goal.

"It’s been a huge mission and my team have done an incredible job."