How to use facial phenotyping technology and machine learning to help identify clinical genetic syndromes

Telemedicine has developed significantly over the last few decades. It was initially used for dermatology and genetic clinics and has been used to support medicine in remote settings from central units. The pandemic of COVID-19 has forced development of this method of clinic delivery in many specialties. The combination of machine learning and improved technology has been revisited in the genetics clinic by Porras AR et al (The Lancet Digital Health 2021;3:e635-e643) who have developed and evaluation of a machine learning-based point-of-care screening tool for helping the diagnosis of genetic syndromes in children. They have developed a facial deep phenotyping technology based on deep neural networks and facial statistical shape models to screen children for genetic syndromes. They trained the machine learning models on facial photographs from children (aged <21 years) with a clinical or molecular diagnosis of a genetic syndrome and controls without a genetic syndrome matched for...

from Archives of Disease in Childhood current issue https://ift.tt/3jlEsgV