A new artificial intelligence (AI) technology accurately identifies rare genetic disorders using a photo of a patient's face, which could be of value in personalized medicine.
Yaron Gurovich of AI and precision-medicine firm FDNA said the DeepGestalt tool "demonstrates how one can successfully apply state-of-the-art algorithms, such as deep learning, to a challenging field where the available data is small, unbalanced in terms of available patients per condition, and where the need to support a large amount of conditions is great."
DeepGestalt was trained on 17,000 facial images of patients from a database of subjects diagnosed with more than 200 distinct genetic maladies.
The algorithm outperformed clinicians in two separate sets of tests to identify a target syndrome among 502 selected images, proposing a list of potential diseases and identifying the right one in its top 10 suggestions 91% of the time.
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Abstracts Copyright © 2019 SmithBucklin, Washington, DC, USA