By Heather Renton, founder of Syndromes Without a Name Australia.
If you have a child, you are probably very familiar with that feeling of helplessness if they get sick.
But imagine not knowing for years why your child was behind their peers, developmentally delayed or having trouble eating, moving, communicating or breathing.
This is the reality for thousands of families across Australia each year.
It is estimated that 2500 babies are born each year with disability and medical problems which are likely to have an underlying genetic cause.
But for many of these families, a diagnosis for their child is still out of reach.
Since I founded Syndromes Without A Name (SWAN) Australia in 2012, there have been rapid advancements in genomics.
Whole Exome Sequencing (WES) has brought with it the power to get a diagnosis in 30- 50 per cent of children where a genetic condition is suspected.
For those who aren’t scientists or clinicians like me, WES makes it possible to analyse around 20,000 genes all at once, some of which we know are likely to cause genetic conditions.
While the funding supporting WES has been a fantastic start, it hasn’t enabled all families with undiagnosed children to access the technology. WES isn’t on the Medicare schedule, so parents often have to try to get into a research study if they can’t afford the considerable out-of-pocket expenses.
And that’s if they are able to consider the test in the first place – many of our families are simply not offered it.
WES makes it possible to analyse around 20,000 genes all at once, some of which we know are likely to cause genetic conditions.
For those who do get WES for their child, more than half of those children do not get a diagnosis from that technology, and it takes months to process.
Getting children a diagnosis sooner makes economic and social sense.
The Australian Genomics Health Alliance’s Acute Rapid Care Team, led by Associate Professor Zornitza Stark and Dr Sebastian Lunke, trialled a new program where critical ill babies were exome sequenced immediately, with results available in as little as five days.
Of the 40 patients involved in the study, half received a diagnosis. The diagnosis changed the medical care for almost 60 per cent of those patients, resulting in healthcare savings of over $500,000.
Less time in intensive care and averting other, more invasive tests, and the knowledge diagnosis brings has huge social benefits too.
This Sunday March 17 is Undiagnosed Children’s Awareness Day and we’re asking for answers.
We can get them, but it starts with our Federal leaders putting WES on the Medicare schedule, with more funding and fairer access for all.