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Editorial

Amazing AI!

Artificial Intelligence has taken detection to an altogether new level. Indeed, it can accurately identify some rare genetic disorder 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 personalised care, according to the study published in the journal Nature Medicine. 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. "It 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," said Yaron Gurovich, chief technology officer at FDNA, an artificial intelligence and precision medicine company, who led the research. This opens the door for future research and applications, and the identification of new genetic syndromes. Gurovich and his team trained DeepGestalt, a deep learning algorithm, by using 17,000 facial images of patients from a database of patients diagnosed with over 200 distinct genetic syndromes. 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 per cent of the time. All the images used in the trials were from patients already diagnosed with a condition; the technology did not identify whether each patient had a genetic disorder, but identified possible disorders that had already been diagnosed. Jorge Cardoso, senior lecturer in artificial medical intelligence at the school of biomedical engineering and imaging sciences at King's College London, described the technology as "very interesting." He added that "the collection of increasingly large and well-curated medical datasets has enabled AI tools to predict genetic mutations from imaging phenotypes reducing the burden of healthcare systems and improving the way we care for patients". Phenotypes are observable characteristics. "While several limitations still need to be addressed to ensure the proposed algorithms are robust in the hospital environment, clinically accurate, and applicable to different age groups and ethnic populations, the potential of AI in healthcare is immense," said Cardoso. This is yet another fantastic and potentially life-changing application of AI. When there are so many negative stories round AI technology it is good to be reminded of the real benefits it can provide to humanity.

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