Study defines new artificial intelligence standard in healthcare

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FDNA, a leader in artificial intelligence and precision medicine, in collaboration with a team of influential scientists and researchers published a milestone study on the use of facial analysis in detecting genetic disorders. The findings in this paper suggest that this type of technology adds significant value in personalized care and will become a standard among deep learning based genomic tools.

The paper, titled "Identifying Facial Phenotypes of Genetic Disorders Using Deep Learning", was published in the peer-reviewed journal Nature Medicine (January 07, 2019) as the product of three years of research. The deep learning technology discussed, DeepGestaltTM, is a novel facial analysis framework that highlights the facial phenotypes of hundreds of diseases and genetic variations.

"This is a long-awaited breakthrough in that has finally come to fruition," said Dr. Karen Gripp, CMO at FDNA and co-author of the paper. "With this study, we've shown that adding an automated facial analysis framework, such as DeepGestalt, to the clinical workflow can help achieve earlier diagnosis and treatment, and promise an improved quality of life."

Yaron Gurovich, CTO at FDNA and first author of the paper, added, "The increased ability to describe phenotype in a standardized way opens the door to future research and applications, and the identification of new genetic syndromes. It demonstrates how one can successfully apply state of the art algorithms, such as , 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."

This technology transforms next-generation phenotyping (NGP)—the capture, structuring, and analysis of complex human physiological data—and is trained on a dataset of over 150,000 patients, curated through Face2Gene, a community-driven phenotyping platform. For the purposes of this study, 17,000 patient images representing more than 200 syndromes were used.

Findings from the study include:

  • DeepGestalt achieves 91 percent top-10-accuracy in identifying the correct syndrome on 502 images;
  • outperformed expert clinicians in three additional experiments;
  • adds significant value to phenotypic evaluations in clinical genetics, genetic testing, research, and precision medicine;
  • should be used in tandem with next-generation sequencing (NGS) for optimal results

"Artificial intelligence is the life force of personalized care, with genome sequencing well on its way to becoming a standard protocol in ," said Dekel Gelbman, CEO of FDNA. "For years, we've relied solely on the ability of medical professionals to identify genetically linked disease. We've finally reached a reality where this work can be augmented by AI, and we're on track to continue developing leading AI frameworks using clinical notes, medical images, and video and voice recordings to further enhance phenotyping in the years to come."

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More information: Yaron Gurovich et al. Identifying facial phenotypes of genetic disorders using deep learning, Nature Medicine (2018). DOI: 10.1038/s41591-018-0279-0
Journal information: Nature Medicine

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Citation: Study defines new artificial intelligence standard in healthcare (2019, January 9) retrieved 8 August 2022 from
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