New study shows AI can diagnose some gene mutations from a photo

And now, an algorithm can predict not only whether they carry a genetic mutation, but which genes were mutated. The study, published Monday in Nature Medicine, is the latest from a Boston-based company called FDNA, one of a few organizations creating software that can help physicians diagnose genetic syndromes based just on a face -- and may serve an important validation of the company's technology, said Yaron Gurovich, the company's chief technology officer. "We went for this high-impact journal to prove beyond any doubt that this technology is good, it performs as we say, we can stand behind it, and now it opens a lot of doors to publish more," he said. The study itself is a collection of experiments testing how the results of algorithms -- FDNA refers to them as DeepGestalt -- stack up against clinicians' diagnoses. In one of the experiments, DeepGestalt's performance was better than random chance when picking which of five genetic mutations might be causing a condition called Noonan syndrome.