Applications of artificial intelligence in clinical genetics

Wednesday 12 June 2024, 12:30 pm
PhD candidate
A.J.M. Dingemans MSc.
prof. dr. L.B.A. de Vries, prof. dr. M.A.J. van Gerven, prof. dr. L.E.L.M. Vissers
dr. M. Hinne

When children with developmental disorders undergo testing for potential genetic predispositions, a DNA change of unknown significance is often identified, leading to uncertainty about a possible diagnosis. This situation is troubling for families due to the ambiguity and is also of medical importance, as a genetic diagnosis can indicate an elevated risk of additional symptoms. In this research, data were gathered and artificial intelligence (AI) applications were developed to ascertain whether children suspected of having a genetic disorder indeed have the condition. The method includes using facial recognition technology combined with advanced data analysis, feasible because many genetic disorders exhibit facial characteristics (Down syndrome is an example). This study demonstrates that AI can help diminish the number of inconclusive outcomes in genetic testing, thereby providing more families with the answers they seek.

Lex Dingemans earned his medical degree in 2017 from Radboud University and has since been working as a physician in the clinical genetics department at Radboud university medical center. In his research, partly conducted at the artificial intelligence faculty, he develops applications of artificial intelligence to address issues he encounters in his medical practice.