Abstract: The utility of DNA sequencing in diagnosing and prognosis of diseases is vital for assessing the risk of genetic disorders, particularly for asymptomatic individuals with a genetic predisposition. Such diagnostic approaches are integral in guiding health and lifestyle decisions and preparing families with the necessary foreknowledge to anticipate potential genetic abnormalities. The present study explores implementing a define-by-run deep learning (DL) model optimized using the Tree-structured Parzen estimator algorithm to enhance the precision of genetic diagnostic tools. Unlike conventional models, the define-by-run model bolsters accuracy through dynamic adaptation to data during the learning process and iterative optimization of critical hyperparameters, such as layer count, neuron count per layer, learning rate, and batch size. Utilizing a diverse dataset comprising DNA sequences fromtwo distinct groups: patients diagnosed with breast cancer and a control group of healthy individuals. The model showcased remarkable performance, with accuracy, precision, recall, F1-score, and area under the curve metrics reaching 0.871, 0.872, 0.871, 0.872, and 0.95, respectively, outperforming previous models. These findings underscore the significant potential of DL techniques in amplifying the accuracy of disease diagnosis and prognosis through DNA sequencing, indicating substantial advancements in personalized medicine and genetic counseling. Collectively, the findings of this investigation suggest that DL presents transformative potential in the landscape of genetic disorder diagnosis and management.
