Doctors faced with the tricky task of spotting rare genetic diseases in children may soon be asking parents to email their family photos. A computer program can now learn to identify rare conditions by analysing a face from an ordinary digital photograph. It should even be able to identify unknown genetic disorders if groups of photos in its database share specific facial features.
Rare genetic disorders are thought to affect 6 per cent of people. Genetic tests exist for the more common conditions such as Down’s syndrome, but many people with the rarer disorders never get a proper clinical diagnosis. Genetic tests aren’t available for many conditions because the gene variants that cause them haven’t been identified. This means doctors often have to rely on the pronounced facial features that occur in between 30 and 40 per cent of rare disorders to make a diagnosis, but few people are trained to recognise them.
“Clinicians skilled in the use of facial features to support diagnosis are few and far between,” says Alastair Kent, director of the charity Genetic Alliance UK. “As a result, families frequently experience long delays – years rather than months – before they receive a diagnosis for their child.”
“有能力根据病人脸部特征进行诊断治疗的临床医生为数不多。”英国慈善组织英国遗传疾病联盟（Genetic Alliance UK）主席阿拉斯泰尔·肯特（Alastair Kent）说，“许多家庭的小孩因未能得到及时诊断而耽搁治疗宝贵时间-不只是数月而是几年。”
The software developed by Christoffer Nellåker and Andrew Zisserman of the University of Oxford and their colleagues should help family doctors or general paediatricians make a preliminary diagnosis. “The idea is to offer it to health systems right across the world because all you need is a computer and a digital photo,” says Nellåker.