You could spit in a tube and mail it to a gene testing company, but that's a lot of work. Face2Gene is a service, in the form of an app, that can phenotype you just by taking a photo. Snap a selfie, and the app will analyze it and tell you if you have any genetic disorders. The app is available for anyone to download, but is designed to be used by a doctor as an aid to diagnosis. Not that that will stop anyone taking it for a spin.
This incredible service uses—you guessed it—deep learning and artificial intelligence to analyze your face. It converts the photo to a grid, like you'd see in a 1980s-era sci-fi movie, and then compares this to its database of grids made from faces of people with various syndromes. Perhaps the most impressive part of this is not the technical part itself—after all, your iPhone can already search your tens of thousands of photos and instantly show you just the pictures of, say, dogs. What's surprising here is that these syndromes can be seen in the face.
Some syndromes are easy to spot just from a facial picture and this software applies the same principals, but for rarer or less obvious genetic disorders. The Face2Gene service is relatively new, but the company behind it, FDNA, lists scientific publications back to 2012. The catch is that all of these publications are were sponsored by FDNA itself. I can't find any independent research on the subject (The company says that it merely offers free use of its technologies to these researchers).
However, its efficacy as a diagnostic tool will be clear (or not) to the doctors that use it. If it can flag an ultra-rare disorder that would otherwise have gone unnoticed, the technology will have proved its worth. "The diagnostic journey for identifying a rare disease can take about seven years," said Brittany Jacobsen, PR representative for FDNA, in an email. "For families, that is half of a son or daughter’s childhood not knowing."
Big data is already changing medicine. Smart watches, popular with fitness fans, can already monitor you far closer than any doctor could hope to do. Time will tell whether apps like Face2Gene actually help with diagnosis—in the U.S., the app's biggest market so far, there are still only 6,500 users according to Jacobsen—but in the future, AI and machine learning will almost certainly turn out to make great doctors' assistants.
Correction: This article previously misstated the number of global users the app has: it is 6,500 not nearly 2,000.