How genomics can help parents and their kids with rare disease
It’s one of the great promises of genomic medicine – all children with a rare disease will have their genetic disorder pinpointed and treated.
It’s one of the great promises of genomic medicine – all children born with a rare disease will in time have their genetic disorder pinpointed and receive personalised treatment as technology and scientific expertise rapidly advances towards solving the agony of diagnostic limbo.
Only half of children with a rare genetic disorder at present are able to receive diagnoses, and 30 per cent of those affected die before the age of five. Many Australian families still do not have access to genomic testing and, when they do get a diagnosis, many rare diseases have no treatment options.
But the huge and growing amount of genetic data amassed in public databases around the world, along with rapid developments in artificial intelligence and machine learning, are enabling many families to obtain a desperately wanted diagnosis of rare disease, paving the way for early intervention and precision treatment.
Leading scientific institutes in Australia such as the Murdoch Children’s Research Institute and the Garvan Institute are intensively working on achieving diagnosis and personalised treatment for the one in 12 babies born with a rare disease.
There are more than 6000 known rare diseases and 75 per cent affect children, with causes of many of these disorders remaining unexplained.
Research consortium Australian Genomics has led cutting-edge work during the past eight years laying the scientific groundwork for the wide adoption of reproductive carrier screening, which is approved under Medicare for three rare diseases but will expand to many more in the near future. The researchers’ work has demonstrated categorically that genomic testing is cost-effective.
The aspiration of genomics researchers is to increase the rate of diagnosis of rare diseases in children to 70 per cent of those affected, but hope lies on the horizon that as genomics and AI advance, they will one day in the not too distant future be able to diagnosis all children within one year of birth as thousands and ultimately millions of human genome sequence data and clinical information are able to be drawn upon. That treasure trove of genomic data is supplemented by growing large clinical datasets that contain rich, multilayered information about individuals’ medical history.
“The amount of clinically relevant information that is encoded in those datasets is almost unimaginable – and so far, we have only scratched the surface of what genome sequences can tell us,” said then Garvan executive director John Mattick AO several years ago when the extent of the vast data being collected in global databases – and its ramifications – was becoming mindblowingly clear.
Professor Mattick described it as the “next great technological and social advance”. The current executive director of the Garvan Institute is Professor Benjamin Kile.
The MCRI has already made more than 100 genetic discoveries in rare disease, and Garvan is now revisiting the genetic data of children whose genomes were mapped years ago and cross-checking against growing international datasets, sometimes now enabling a diagnosis.
The projects are also now linking with children’s hospitals to enable precision treatment or access to clinical trials. MCRI’s Rare Disease Now program is delivering genomic diagnoses and precise, personalised care to children at The Royal Children’s Hospital in Melbourne, establishing a pathway for children who remain undiagnosed after a genomic test such as exome sequencing.
Many more such programs will come down the line, but the challenge is making them available to everyone across the country. Equity of access to gene screening in the case of concerns over a child’s development will be key, and clear pathways of connection to the clinic, to enable doctors to be able to support families with whatever early interventions or therapies may be available, as soon as possible in a child’s life.
