Artificial intelligence recognizes genetic disorders based on images of the face

Breakthrough in the diagnosis of genetic disorders achieved

So-called artificial intelligence (AI) is increasingly used for the early diagnosis of diseases. Researchers have now developed a new AI technology that can accurately identify rare genetic disorders from a photograph of a patient's face.

The scientists from Tel Aviv University and FDNA Inc have developed a new form of diagnosis of rare genetic disorders that requires only a photograph of the patient's face. The physicians published the results of their study in the English-language journal "Nature Medicine".

Artificial intelligence is becoming increasingly valuable in the early detection of disease. (Image: sakkmesterke / fotolia.com)

AI surpasses diagnosis of medics

The new artificial intelligence called "DeepGestalt" has already surpassed physicians and experts in identifying a number of syndromes in three different studies. The use of this form of diagnosis could greatly enhance the personalized treatment of patients.

Many genetic disorders have recognizable facial features

The current study found that eight percent of the population suffer from diseases with important genetic components. Many of these disorders show recognizable facial features, researchers say. The new technology could, for example, identify the so-called Angelman syndrome, a disorder of the nervous system with characteristic features such as a wide mouth with widely spaced teeth. Strabismus could also be detected, a disease in which the eyes point in different directions.

How was the learning algorithm trained??

The results show how state-of-the-art algorithms can be used to tackle even the most demanding problems for which there is currently limited data available, the researchers explain. In the future, important applications could be developed and new genetic syndromes identified with the help of the technology. The learning algorithm was trained by using 17,000 facial images of patients from a database of patients with over 200 different genetic syndromes.

Possible disadvantages of the new technology

Because facsimile images are easily accessible, this could lead employers to analyze facial images and discriminate people with pre-existing conditions or medical complications, the study authors warned.

How reliable is the new AI?

The research team found that AI technology outperformed physicians in two separate sets of tests when identifying a target syndrome among 502 selected images. In each test, the AI ​​suggested a list of potential syndromes and identified the correct syndrome in the top 10 of the suggestions in 91 percent of the cases. The technology uses the learning algorithm along with the facial features of the image provided and then creates a list of possible clinical pictures. All images used in the studies are from patients who have already been diagnosed with a disease.

The potential of AI in healthcare is enormous

The collection of ever larger and better curated medical datasets allows AI tools to predict genetic mutations based on imaging phenotypes, thereby reducing the burden on healthcare systems and improving patient care. Some limitations still need to be addressed to ensure that the proposed hospital algorithms are robust, clinically accurate, and applicable to different age groups and ethnic populations, the study authors say. However, the potential of AI in healthcare is enormous. (As)