"With Just a Photo, This Algorithm Can Do More Than Spot A Possible Genetic Condition - It Can Suggest A Cause" - Kate Sheridan
Some people's faces - or even just a photo of them - hint at the genes they carry. And now, an algorithm can predict not only whether they carry a genetic mutation, but which genes were mutated. The study, published in Nature Medicine, is the latest from a Boston-based company called FDNA, one of a few organizations creating software that can help physicians diagnose genetic syndromes based just on a face - and may serve an important validation of the company's technology. The study itself is a collection of experiments testing how the results of algorithms stack up against clinicians' diagnoses. One expert on Noonan syndrome, Bruce Gelb, MD, the director of the Mindich Child Health and Development Institute at the Icahn School of Medicine at Mount Sinai, cautioned that being able to pick apart a person's genotype based on facial features is not generally going to be useful for people with the condition. Some children with Noonan syndrome attend special education classes; other develop typically and can attend mainstream classes. Many can live independently when they're adults. "It varies a lot," Dr. Gelb said.
— Bruce Gelb, MD, Professor, Pediatrics, Cardiology, Genetics and Genomic Sciences, Director, Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai