AI Can Identify Rare Genetic Disorders by the Shape of Someone’s Face

January 7, 2019

New Scientist

“People with genetic syndromes sometimes have telltale facial features, but using them to make a quick and cheap diagnosis can be tricky given there are hundreds of possible conditions they may have. A new neural network that analyses photographs of faces can help doctors narrow down the possibilities. FDNA in Boston and his team built a neural network to look at the gestalt – or overall impression – of faces and return a list of the 10 genetic syndromes a person is most likely to have.”

People with genetic syndromes often exhibit distinctive facial features, but diagnosing these conditions quickly and cost-effectively can be challenging due to the vast number of potential disorders. A new neural network developed by FDNA in Boston addresses this by analyzing photographs of faces to assist doctors in narrowing down diagnostic possibilities. This AI-driven tool evaluates the gestalt, or overall impression, of facial features and generates a list of the ten most likely genetic syndromes. This advanced technology offers a significant aid in streamlining and enhancing the accuracy of genetic disorder diagnoses, improving patient care outcomes.