Trastornos hereditarios pediátricos: el papel del NP en las pruebas, el asesoramiento y el manejo

Pediatric inherited disorders significantly impact morbidity, mortality, and quality of life, making timely diagnosis and management essential. Nurse practitioners (NPs) play a critical role in genetic care by guiding families through testing, providing counseling, and collaborating to provide long-term management. With knowledge of inheritance patterns, genetic testing modalities, and newborn screening, NPs can identify pathogenic variants, coordinate multidisciplinary care, and address parental concerns. Acting as the family's point person in the medical home, primary care NPs integrate education, support, and evidence-based practice to reduce diagnostic delays, improve outcomes, and empower families navigating the complexities of genetic disorders.