3-D genetics face-off

Article courtesy of Medical Forum.

No longer just a tool for gaming and security systems, 3D facial analysis technology has the
potential to revolutionise the diagnosis and treatment of rare genetic disorders, which impact
more than 300 million people globally.

The study, funded by Takeda Pharmaceutical Asia-Pacific Medical Affairs in Rare Diseases,
will ensure clinicians at SingHealth, Singapore’s largest group of healthcare institutions, are
trained to capture and analyse 3D facial images using Curtin University’s Cliniface software

Cliniface and study clinical lead Professor Gareth Baynam, the Head of the Western
Australian Register of Developmental Anomalies at King Edward Memorial Hospital,
NMHS, said that after years trialling the new technology, they have produced demonstratable
reference statistics of 3D facial norms.

“What we have been doing, as well as collecting information on people who have conditions,
we collect information – that is 3D scans – on people who don’t have known conditions, if
you like that reference range data. We’ve done that locally with both Aboriginal
and non Aboriginal people,” Prof Baynam said.

“So, for instance, we have a project supported by the Roy Hill Community Foundation in the
Pilbara, called The Pilbara Faces, in which we’ve been building a reference range of Pilbara
data, so that its more equitable and accessible to help with care closer to home.”

The team has been conducting specific research on Hereditary Angioedema (HAE), a rare
disease that affects one in 50,000 people that is characterised by severe and sometimes life

threatening episodic swelling, mainly of the face and upper torso.

Currently, only subjective clinical descriptions of the nature of facial swelling in people with
HAE exist and giving clinicians an objective understanding of the facial swelling will help
assess the onset of an attack, its severity, recovery and treatment, potentially assisting with the
initial diagnoses and improving management outcomes.

“About a third of some 8000 rare diseases are known to have some sort of facial clues, some
sort of facial signature – often really subtle, not something that you would look at a person
and immediately notice,” Prof Baynam said.

“So potentially, for that third, which is thousands of diseases out of the 8000, this technology
could help, both from the perspective of trying to improve diagnosis, but also in trying to
improve how we monitor the response to certain therapies, or how we perform clinical trials.”

“The way that we have built the software means that we can partner internationally,” he

“And we do it in such a way that the actual data, in terms of the individual scans, all stay in
those places: what actually ends up being shared is fundamentally a series of growth charts for
essential facial measurements that have been generated, which means that people can really
do this on a global scale.”

Computer scientist Dr Richard Palmer, from Curtin University’s School of Earth and
Planetary Sciences, who developed the Cliniface technology, said that in the upcoming study
the 3D facial images of 900 Singaporeans would be processed through the Cliniface platform,
extracting more than 50 facial measurements from each image.

“The resulting de-identified data will be transmitted from SingHealth to the Cliniface team at
Curtin University for analysis, allowing us to generate modelling that outlines facial features
specific to the Singapore population,” Dr Palmer said.

“By working together, we will expand our understanding of the facial features of this rare
genetic disorder with the ultimate aim of potentially making it easier for clinicians to treat
patients and ultimately improve the lives of people living with HAE.”