An Pediatr (Engl Ed). 2025 Nov 20:503929. doi: 10.1016/j.anpede.2025.503929. Online ahead of print.
ABSTRACT
Genomic medicine has made significant progress, driven by genomic technologies and their integration into clinical practice. However, its implementation presents challenges, particularly in genetic counseling (GC) and the interpretation of genomic data. Genetic counseling is a nondirective communication process aimed at helping patients and families understand and adapt to the implications of a genetic diagnosis. In pediatric care, GC takes on particular importance, adapting to the needs of each child development stage. Challenges arise with genetic newborn screening and rapid tests in intensive care units (ICUs) during the neonatal period. In children, GC focuses on the communication with the young patient and their family, addressing complex ethical issues such as consent, predictive testing and incidental findings. In adolescents, new challenges arise in relation to autonomy and decision-making. Multidisciplinary care is essential, including yet undiagnosed cases still on the journey commonly referred to as the “diagnostic odyssey”. This article reviews the role of GC across the stages of pediatric care in the framework of the current evidence on genomics.
PMID:41271535 | DOI:10.1016/j.anpede.2025.503929
