AI App Identifies Rare Genetic Disorders from Photos of Patients’ Faces

Deep-learning algorithms could help doctors narrow in on the causes of certain medical conditions, say researchers.

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A group of image-analyzing algorithms designed by Boston-based startup FDNA can diagnose certain genetic diseases based on people’s faces, according to a study published yesterday (January 7) in Nature Medicine. The algorithms, collectively termed DeepGestalt by the company, rely on deep learning and computer vision to identify patterns in facial photos of patients and identify which of multiple possible genetic mutations could be behind a person’s condition.

The approach “is clearly not perfect,” says FDNA’s chief technology officer, Yaron Gurovich. “[But] it’s still much better than humans are at trying to do this.”

DeepGestalt powers the company’s app, Face2Gene, which has been freely available to health care professionals since 2014. Doctors have already started using the technology as an aid, according to Nature, although the tool is not intended to be used to provide a definitive diagnosis.

The current study was designed to demonstrate the technology’s ...

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