Selfies Could Be Key In Diagnosing Genetic Diseases

Seth Richardson Contributor
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All of those selfies everyone seems to hate (but can’t stop taking) could soon have a practical application: diagnosing genetic disorders.

New Scientist reports that researchers at the University of Oxford have developed software to analyze facial pictures to help diagnose rare disorders. Christoffer Nellåker and Andrew Zisserman developed the software and plan to use it to help pediatricians and general practitioners.

The software analyzes specific facial features and compares them to a photo database of genetic disorders. As more pictures are added to the program, its accuracy increases. Nellåker and Zisserman reported accurate readings 93 percent of the time.

“It automatically analyzes the picture and annotates key feature points, producing from that a description of the face, which expands the features that are important for distinctiveness,” Nellåker told New Scientist.

The concept is not new. Most disorders lack a genetic test, so specialists analyze facial features to determine the condition. But doctors with the necessary skill set are hard to come by.

“Clinicians skilled in the use of facial features to support diagnosis are few and far between,” Alastair Kent, director of the charity Genetic Alliance UK, said. “As a result, families frequently experience long delays – years, rather than months – before they receive a diagnosis for their child.”

The software currently recognizes 90 different disorders. It does not make a direct diagnosis, however; rather, it narrows down the possibilities. This makes it easier for doctors to determine the condition.

David Fitzpatrick, the clinical geneticist who confirmed the diagnoses, said the software will be used extensively in areas where genetic specialists aren’t available.

Nellåker said he and his colleagues hope to expand the software to full frontal images, as well as including DNA analysis to simultaneously explore facial structure and genetic features of disorders.

Seth Richardson