To read on ABC website:
Facial recognition technology used in world first to diagnose intellectual disabilities
Since the day Charleigh Hayes was born, her life has been filled with doctors and medical appointments.
« She was a very floppy baby, a very sleepy baby, so initially when we were in hospital the doctors were aware something was up, but we didn’t know what, » her mother Ainsley Hayes said.
Charleigh does not feel pain and cannot talk, so she cannot tell her parents what she wants, if she is hungry, or if she is hurt.
Ms Hayes said her daughter also had seizures and got sick easily.
« She doesn’t drink so she needs fluid intake through a gastro peg in her belly, so there’s all the hygiene involved with that, which just makes it really hard to go anywhere, » Ms Hayes said.
« And she’s still incontinent, so again having nappy changes, a lot of places are just ill-equipped to change her at their facilities, where ever it is, so that’s a huge thing as well. »
But while she has seen numerous doctors and specialists, Charleigh, who is about to turn eight, is still without a diagnosis.
« It’s limbo. We never know what’s going to happen next, because we don’t know what to expect, » Ms Hayes said.
« It’s day by day. We can’t make any plans as a family to go on holidays because we just never know when the next shoe is going to drop, what else is going to happen. »
Many are still undiagnosed
Rare genetic conditions are extremely difficult to diagnose, with up to 70 per cent of people with an intellectual disability still undiagnosed, despite having had genetic testing.
So, geneticists have turned to key clues — written on a person’s face.
A third to half of children with moderate to severe intellectual disabilities have facial features that differ from their family’s, and clinicians are using these subtle differences to try to find a way to crack the codes of unknown conditions.
Geneticists and doctors already try to manually match their patient’s facial features with another’s, either in Australia or internationally using photos, with the hope of finding people with the same rare genetic condition, and work out what it is.
The process is long, difficult and poses many challenges.
So, geneticists have turned to a technology many might associate with spy films and national security rather than medicine, after an idea sparked by an episode of the ABC’s Catalyst program in 2012.
Media player: « Space » to play, « M » to mute, « left » and « right » to seek.
World first platform developed
« I was watching Catalyst and I wondered whether the technology developed by [University of Queensland’s] Professor Brian Lovell for counter-terrorism and policing, which is a face-matching technology or face-recognition technology, could be used to help us find patients around the world who have similar faces and possibly may have the same as yet undiagnosed condition, » said Dr Tracy Dudding-Byth, a clinical geneticist from Hunter New England Health in New South Wales.
« So, I met with Brian, and published the pilot data showing that his technology is very accurate at matching children within the same syndrome sub-group.
« From then we’ve been working on developing this website, which is the FaceMatch platform — it’s an international platform which is available to parents and doctors around the world. »
« Parents are able to upload photographs and they’re asked to nominate an associated clinical geneticist or medical specialist and that doctor comes in and verifies the photo and provides more information, » Dr Dudding-Byth said.
Each time a photo is uploaded to the website, launched on Wednesday by the Hunter Medical Research Institute, it is matched against every other photo in the database.
The images are encrypted and the data collected is stored securely.
Dr Dudding-Byth said it would take time to get enough photos from around the world to start making matches.
« It’s a bit like looking for someone at a birthday party who’s got the same birth date, the more people at the birthday party, the more likely you’re going to find someone who was born on the same day, » she said.
« And so, the more families we have around the world uploading these images, the more likely we are to find matches and to help make diagnoses. »