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Computer program diagnoses genetic disorders from family photos

30 June 2014

By Dr Victoria Burchell

Appeared in BioNews 760

Genetic conditions are often so rare that patients never receive a genetic, or even a clinical, diagnosis. Now an everyday photo may be all that's needed, using a newly developed computer program to analyse facial structures for tell-tale signs of 90 different conditions.

'A doctor should in future, anywhere in the world, be able to take a smartphone picture of a patient and run the computer analysis to quickly find out which genetic disorder the person might have', said Dr Christoffer Nellåker of the University of Oxford, who led the study.

Between 30 and 40 percent of genetic or chromosomal conditions such as Down's, fragile X or Marfan syndromes can cause developmental changes in the face or skull which can be used to aid diagnosis. However, these features can be subtle and difficult to spot.

In a study published in the journal eLife, researchers developed a computer program to do just that.

The program recognises faces in photographs, then builds a description of the structure of the face by identifying features like the corners of the eyes or shape of the eyebrows. It then compares this information to images it has seen before to generate a list of possible diagnoses.

'It's not sufficiently accurate to provide a rock-solid diagnosis, but it helps narrow down the possibilities', Dr Nellåker told the New Scientist.

The algorithm is most accurate at diagnosing conditions for which it has already seen several photos, as it adds each new photo into its database of remembered images.

The researchers first trained the computer by generating a database of 2,878 images, of which roughly half were of people with one of eight known developmental disorders, while the other half were controls.

The program was tested using a fresh set of photos of people, each with one of the eight conditions, and it correctly predicted the diagnosis in 93 percent of cases.

The algorithm is now able to recognise 90 different genetic disorders. Furthermore, the researchers saw that some patients clustered where no documented diagnosis exists, suggesting that they may have a similar underlying genetic condition. This could be useful in diagnosing ultra-rare genetic disorders.

Charities representing patients with genetic disorders have welcomed the research. Speaking to the New Scientist, Alastair Kent, director of Genetic Alliance UK, described it as 'potentially a tremendous step forward in shortening the diagnostic journey that families embark on following the birth of a child with dysmorphic features'.

He continued: 'If validated, it will provide access to expert advice and guidance for families more quickly and efficiently than is currently possible'.


20 November 2017 - by Nina Chohan 
The New York fertility clinic Reproductive Medicine Associates is facing two lawsuits from couples whose children, conceived using donor eggs from the centre, have Fragile X syndrome...
23 May 2016 - by Amina Yonis 
Researchers have discovered four genes that play a part in determining the shape of people's noses...

24 March 2014 - by Chris Hardy 
A new technique allows scientists to make guesses about what a person's face looks like, by examining just 20 genes in their DNA...
28 October 2013 - by Dr Naqash Raja 
Regions of the genome that do not code for proteins have been found to shape facial features, research at the Lawrence Berkeley National Laboratory, USA, has shown...
17 September 2012 - by Daryl Ramai 
Five genes that determine a person’s facial shape have been identified, in a study of almost 10,000 Europeans...
10 September 2007 - by Dr Jess Buxton 
New software that analyses 3D scans of peoples' faces could speed up the diagnosis of rare genetic conditions, say UK researchers...

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