DESPITE significant advances in genetic testing, between 60 and 70 per cent of children with rare intellectual disabilities remain undiagnosed.
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But Hunter-led research is using facial recognition technology to try to piece the puzzle together for the patients, and their parents.
Clinical geneticist Dr Tracy Dudding-Byth, of HMRI and Hunter Genetics, said there was about 8000 rare diseases which were "individually rare but collectively common".
"Usually they have a prevalence of less than one-in-2000. There might only be a handful of families in the world with them. And they are very difficult to diagnose," she said. "I predominantly deal with paediatric diseases associated with intellectual disability. About half of those children will have facial features that will provide a clue for diagnosis."
Dr Dudding-Byth said historically, they would look at a child's face and decide which genetic test to order.
"And up until about two years ago, when we saw a child, we would choose one gene to test - because each gene test costs about $2000," she said. "But there has been recent advances in genetic testing which allows us to sequence all the genes - all the 1500 known intellectual disability genes, in a single, cost-effective test. That has revolutionised our approach. But the diagnostic rate is still around 40-to-50 percent, so 60-to-70 per cent of the children remain undiagnosed, despite testing all the genes."
When children remained undiagnosed, doctors manually presented photos to colleagues trying to find two individuals, or a cluster of individuals, with the same features.
"If you can find people that look the same, you can compare their DNA and discover new genes," she said. "FaceMatch is using facial recognition technology via a web-based portal to match the faces of these children, to discover new genes, and help us determine whether we can diagnose known conditions at an earlier age."
The co-founder of Rare Voices Australia said even without a pharmacological treatment, a definite genetic diagnosis could inform prognosis and treatment, and restore "reproductive confidence" for parents.
It could also reduce the sense of isolation and desperation experienced by the family, the number of hospital visits, and the need for invasive testing.
Dr Dudding-Byth said research showed that around 30 per cent of people would spend at least five years searching for a diagnosis, and 50 per cent were misdiagnosed more than once.
But the FaceMatch project had found a medical use for the technology normally employed by policing and security agencies by looking for common facial traits across ethnicity, age and gender to help diagnosed intellectual disabilities.
"The computer vision is able to store and match more images than is possible by the human eye," she said.
This international platform is the first of this kind to empower parents to initiate enrolment, nominate a doctor and provide, edit, and update their childs profile page and images for face-matching."
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