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09/01/2019

AI technology can identify genetic diseases by looking at your face, study says

CNN reports a new artificial intelligence technology can accurately identify some rare genetic disorders using a photograph of a patient's face, according to a new study.

The AI technology, called DeepGestalt, outperformed clinicians in identifying a range of syndromes in three trials and could add significant value in personalized care, according to the study published Monday in the journal Nature Medicine.
The study notes 8% of the population has diseases with key genetic components, and many have recognizable facial features. The technology could identify, for example, Angelman syndrome, a disorder affecting the nervous system with characteristic features such as a wide mouth with widely spaced teeth, strabismus, where the eyes point in different directions, or a protruding tongue.
The team found that the AI technology outperformed clinicians in two separate sets of tests to identify a target syndrome among 502 chosen images. In each test, the AI proposed a list of potential syndromes and identified the correct syndrome in its top 10 suggestions 91% of the time.
Another test looked into identifying different genetic subtypes in Noonan syndrome, which carries a range of distinctive features and health problems, such as heart defects. Here, the algorithm had a success rate of 64%. In previous studies, clinicians looking at images of Noonan syndrome patients were able to identify 20% of cases, explained Gurovich.

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