UCL in the News: Face can help diagnose rare genetic disorders

10 September 2007

A way to help diagnose rare genetic disorders by the appearance of a child’s face has been developed to the point where it can train junior doctors. …

It can … help to reveal the precise genes that, when damaged, cause severe developmental disorders so that diagnosis can be made earlier, Prof Peter Hammond of the UCL Institute of Child Health will tell the nation’s biggest annual general science meeting this week.

The public easily recognise individuals with Down syndrome, but there are over 700 of the 5,000 documented genetic conditions that involve unusual and often subtle changes to the face. …

The new method compares a child’s face to similarly aged groups of individuals with known conditions and selects which condition looks the most similar. In order to do this, collections of 3D face images of children and adults with the same genetic condition had to be gathered, as well as controls or individuals with no known genetic condition. …

The insights have come from a project in which Prof Hammond spent seven years travelling worldwide to scan affected children to hone computer software that compares the faces of undiagnosed children with those with genetic disorders that affect their development and especially their face. …

If, in a difficult case, the software can narrow down the possibilities to conditions with similar facial features, a doctor can then undertake further examinations and DNA tests, if they exist, to determine the diagnosis. Testing for fewer conditions will save money, time and reduce the amount of stress the child and the parents are put under.

“This could reduce the amount of testing and associated stress for the child, and maybe even save money,” he will tell the British Association, adding that genetic testing can cost up to £1000. “ It could also speed up the diagnostic process and help reduce the anxiety of parents who need genetic counselling.”

Prof Hammond said: “Delay in diagnosis causes anxiety to parents who need advice on risks to their future children. Moreover, delay may defer important medical treatment or behavioural training that could improve the prognosis for affected children.’ …

Roger Highfield and Nic Fleming, ‘The Daily Telegraph’