
Many hereditary diseases have their own symptoms and indicators that can lead to diagnosis. However, it is still a great challenge for doctors and geneticists to diagnose diseases solely based on the physical appearance of symptoms. However, an Israeli company has made it far easier to do that than ever before.
According to MIT Technology Review, Israeli company Face2Gene provides face recognition technology (FRT) to help doctors diagnose diseases. The use of FRT has been approved in the U.S.
By examining photos of patients, doctors can offer a series of potential diagnoses. Karen Gripp, the director of A.I. DuPont Hospital in Wilmington, Delaware, used the technology to diagnose a female patient suffering from cerebrospinal meningitis.
“I noticed the cheilopalatoschisis, but that's like red herring, and it's hard to find symptoms. You can only judge based on the knowledge you're given. You can, however, screen symptoms with the assistance of Face2Gene,” Gripp said in an interview with MIT Technology Review.
Face2Gene can build a model of people with similar characteristics, and make comparisons using composite photos generated by the application's software. Of 7,000 genetic syndromes, more than half have unique facial characteristics, which can be used to diagnose irregularities such as Down Syndrome, according to Face2Gene. However, the biggest challenge for the application is diagnosing rare diseases.
“Imagine you are a geneticist: based on your training and what you see, you will have a basic judgment based on photos. But it is impossible for you to truly know,” said Dekel Gelbman, the CEO of Face2Gene.
What Face2Gene has done is collect data from geneticists to attract more pharmaceutical and medical companies to get involved. With more people using Face2Gene, the database will become more sophisticated, and the connections between facial characteristics and diseases will become more obvious. Gelbman said that the FRT is now being used by more than 60 percent of clinical geneticists and genetic counselors around the world.
What’s more, patients themselves can upload photos to the system. After uploading a photo to the server through an app, the program generates a number of matching syndromes. Patients can also obtain information about each syndrome from the Landon Medical Database. By adding descriptions of relevant syndromes, the system is better able to calculate probabilities.
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