Wednesday, April 12, 2017

Facial-recognition software finds a new use: diagnosing genetic disorders

Inspired by observations made by Dr. Maximilian Muenke, it has been hypothesized that distinctive facial features may indicate the presence of a genetic disorder within an individual. He claims from his experience within the field, it is exceptionally easy for him to look at a patient and diagnose an existing condition such as William's syndrome, without any prior pedigree knowledge or medical testing. Although this immediate recognition may not always be completely accurate, it could give reason for someone to seek genetic testing or counseling if necessary. This skill is to be applied in the facial-recognition technology that is readily available today. Scientists hypothesize this technological breakthrough could be especially useful in instances where genetic testing is not available, and people who wish to have accurate medical help, or do not wish to pass such genetic disorders onto their children. Even in advanced societies, individuals with such syndromes could be misdiagnosed, and this will aid physicians in finding the best treatment for their patients. Face2Gene is a new program developed by FDNA, a Boston based start up, which is readily available to clinicians as a mobile app in which they may take photographs of their patients, with their consent, to be analyzed for possible syndromes they may have. A now quickly moving force, this new technology will have to be constantly updated and improved with the help of both developers and geneticists to keep the possible diagnoses as accurate and as useful to the public as possible. I believe if this technology is used properly, and can be as accurate as it claims, Face2Gene could really give clinicians, genetic counselors, and the public an edge on making actions to both treat and prevent deleterious and unwanted genetic syndromes. I hope this application is used as it is intended, and can genuinely make a difference in our society in dealing with these conditions.

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