Thanks To AI, Computers Can Now See Your Health Problems

By Megan Molteni for WIRED.

Patient Number Two was born to first-time parents, late 20s, white. The pregnancy was normal and the birth uncomplicated. But after a few months, it became clear something was wrong. The child had ear infection after ear infection and trouble breathing at night. He was small for his age, and by his fifth birthday, still hadn’t spoken. He started having seizures. Brain MRIs, molecular analyses, basic genetic testing, scores of doctors; nothing turned up answers. With no further options, in 2015 his family decided to sequence their exomes — the portion of the genome that codes for proteins — to see if he had inherited a genetic disorder from his parents. A single variant showed up: ARID1B.