Opportunities and challenges in machine learning-based newborn screening—A systematic literature review

• Main Authors: Garbade, S.F (Author), Haupt, S. (Author), Heuveline, V. (Author), Kölker, S. (Author), Mütze, U. (Author), Zaunseder, E. (Author)
• Format: Article
• Language: English
• Published: John Wiley and Sons Inc 2022
• Subjects: Article; artificial intelligence; artificial neural network; classification algorithm; data mining; data preprocessing; data science; deep learning; discriminant analysis; human; learning algorithm; machine learning; modeling; multiple acyl CoA dehydrogenase deficiency; neonatal screening; newborn screening; pattern recognition; phenylketonuria; predictive value; prevalence; publication; receiver operating characteristic; risk factor; sensitivity and specificity; support vector machine; systematic review; transcriptomics
• Online Access: View Fulltext in Publisher

 The development and continuous optimization of newborn screening (NBS) programs remains an important and challenging task due to the low prevalence of screened diseases and high sensitivity requirements for screening methods. Recently, different machine learning (ML) methods have been applied to support NBS. However, most studies only focus on single diseases or specific ML techniques making it difficult to draw conclusions on which methods are best to implement. Therefore, we performed a systematic literature review of peer-reviewed publications on ML-based NBS methods. Overall, 125 related papers, published in the past two decades, were collected for the study, and 17 met the inclusion criteria. We analyzed the opportunities and challenges of ML methods for NBS including data preprocessing, classification models and pattern recognition methods based on their underlying approaches, data requirements, interpretability on a modular level, and performance. In general, ML methods have the potential to reduce the false positive rate and identify so far unknown metabolic patterns within NBS data. Our analysis revealed, that, among the presented, logistic regression analysis and support vector machines seem to be valuable candidates for NBS. However, due to the variety of diseases and methods, a general recommendation for a single method in NBS is not possible. Instead, these methods should be further investigated and compared to other approaches in comprehensive studies as they show promising results in NBS applications. © 2022 The Authors. JIMD Reports published by John Wiley & Sons Ltd on behalf of SSIEM.