Medical genetics in pediatric practice: essential concepts

Abstract

Introduction: Genetic disorders are a significant cause of morbidity and mortality in the pediatric population, particularly in the context of the global epidemiological transition. Advances in diagnostic technologies, especially in genomics, have expanded the role of medical genetics in pediatric clinical practice. Objective: To present, in a clear and structured manner, the main concepts of medical genetics applicable to pediatric practice, including biological foundations, inheritance patterns and diagnostic methods. Data source: Narrative review based on searches in PubMed, using descriptors related to medical genetics, genetic testing, genetic counseling, and pediatrics, with selection of relevant review articles published in the last 10 years. Data synthesis: Fundamental concepts of DNA structure, types of genetic variants and inheritance patterns were addressed, including penetrance and expressivity. The main diagnostic modalities were discussed, including karyotyping, chromosomal microarray, Sanger sequencing and next generation sequencing, along with their indications, limitations, and clinical applications. Differences between targeted and broad approaches, such as gene panels, whole-exome sequencing and whole-genome sequencing, were highlighted, as well as aspects related to diagnostic yield, result interpretation, and secondary findings. Ethical issues were also discussed, particularly in the pediatric setting. Conclusions: This review provides a practical overview of the main inheritance patterns, diagnostic methodologies, and variant classification criteria, aiming to support clinical decision-making in the pediatric setting.