Although the area of genomics has not been developing at an exponential rate that experts expected when the Human Genome Project was announced to be completed, more and more ways of potential use of genomic data in medicine have showed how it might transform our lives. A few months ago, it was published that so-called “genetic mugshots” can be recreated from DNA. By only using a person’s DNA, a face can be generated which sounds like pure science fiction.
Now researchers at Oxford University have developed a computer program that can diagnose rare genetic disorders in children simply by analyzing family photos.
One day we might be able to sequence the genomes of newborns immediately after birth (or even before) to tell parents what major conditions the child might have to deal with in the future. As an additional feature, children without genomic sequences made available could get an instant diagnosis only by looking into the camera of a computer using this algorithm.
An excerpt about how it works:
The program works by recognising certain characteristic facial structures that can be present with certain conditions, including Down’s syndrome, Teacher Collins, Progeria, Fragile X and Angelman syndrome. It combines computer vision and machine learning to scan pictures for similarities to a database of pictures of people with known conditions, and then returns matches ranked by likelihood.