Application of facial analysis Technology in Clinical Genetics: Considerations for diverse populations

Abstract

AbstractFacial analysis technology in rare diseases has the potential to shorten the diagnostic odyssey by providing physicians with a valuable diagnostic tool. Given that most clinical genetic resources focus on populations of European descent, we compare craniofacial features in genetic syndromes across different populations and review how machine learning algorithms perform on diagnosing genetic syndromes in geographically and ethnically diverse populations. We also discuss the value of populations from ancestrally diverse backgrounds in the training set of machine learning algorithms. Finally, this review demonstrates that across diverse population groups, machine learning models have outstanding accuracy as supported by the area under the curve values greater than 0.9. Artificial intelligence is only in its infancy in the diagnosis of rare disease in diverse populations and will become more accurate as larger and more diverse training sets, including a wider spectrum of ages, particularly infants, are studied.