Facial Phenotyping by Artificial Intelligence is now possible according to Nature Genetics on 10 February 2022. Patients with rare genetic diseases can be diagnosed this way. Since these diseases are characterized by specific facial features, the new system can identify these phenotypes and help doctors reach a diagnosis by just a patient’s photo.
Facial phenotyping has long been practiced by doctors. However, many of the patients with rare diseases endure an odyssey until the correct diagnosis is made. It is important to detect such diseases at an early stage and initiate appropriate therapy as soon as possible.
Artificial intelligence uses the facial characteristics, calculates the similarities, and automatically links them to clinical symptoms and genetic data of patients. Thus, the face provides a starting point for diagnosis. GestaltMatcher, according to the researchers, can calculate what the disease is with a high degree of accuracy.
Together with mutation data, GestaltMatcher can accelerate the clinical diagnosis of patients with ultra-rare disorders. It also enables the delineation of new phenotypes. Patients can be matched to others with the same molecular diagnosis even when the disorder was not included in the machine training set.
GestaltMatcher’s ability to match previously unseen syndromes distinguishes it from other approaches. Matching of unseen syndromes is of importance for identifying ultra-rare disorders. It can also be useful for the discovery of new diseases. Thus, GestaltMatcher can also speed up the process of delineating new disorders.
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Source: Hsieh, T-C., et al. (2022) GestaltMatcher facilitates rare disease matching using facial phenotype descriptors. Nature Genetics (2022). doi.org/10.1038/s41588-021-01010-x.