Abstract
Clinical genetics is a rapidly expanding field that is integrating into every aspect of medical care from pregnancy planning to end-of-life decisions to illustrating research avenues and novel therapeutics. In this chapter, we aim to define, discuss, and elaborate upon basic concepts of genetic and genomic medicine and its application in clinical care. Starting with cytogenetic and the chromosomal aberrations that are commonly encountered in the pediatric clinic to the fields of bioethics and the burgeoning field of newborn screening and genomic testing, we explore the clinical presentations, currently known genes, and molecular pathways that are vital for the pediatrician to be familiar with. Recognizing monogenic disorders remains an important part of the pediatric physical diagnostic skill set and can impact both the child and family in front of you and the broader field of pediatric medicine. Familiarity with the underlying presence, utility, and limitations of genetic and genomic medicine is crucial to ensure proper care of the modern pediatric patient.
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