A family received an explanation for the condition of a child who suffered from delayed growth, movement and speech after his mother uploaded his photo to Face2Gene, a medical application that uses artificial intelligence to analyze facial features and search for patterns associated with rare genetic disorders. The result came after years of medical assurances that the child would catch up with his peers without any apparent problem.

The match decided by genetic testing

According to the Wall Street Journal, the application suggested that the child Oliver suffers from a rare syndrome called cutaneous nasal sarcoma that affects bones, joints and growth. Genetic consultations and tests confirmed the result and revealed that his mother carries the same condition. A study involving 90 previously diagnosed rare cases showed that chatbots achieved the correct answer at rates of 13% and 10%, compared to 5.6% for doctors who reviewed medical records alone.

An assistant to find possibilities without replacing the doctor

The strength of artificial intelligence lies in its ability to compare an image or symptoms with a vast number of cases and research that a single doctor may struggle to recall. However, it can provide an incorrect diagnosis due to the scarcity of data on some diseases or the poor representation of certain population groups. Therefore, its safest function remains suggesting appropriate possibilities, tests, and organizing records, while leaving the final confirmation to genetic testing, imaging, and specialized medical consultation.