Pediatrics

Genomics allows whole genome approaches to analysis and this has been instrumental in identifying the genetic basis of many childhood disorders, especially those characterized by physical anomalies or neuro-developmental disorders. Personalized medicine, an approach to care in which an individual's genomic information is used to help tailor interventions to maximize health outcomes, is rapidly becoming a reality for a variety of conditions. Though challenges remain in translating new genomic insights into improved patient health, today's pediatricians and their patients will increasingly benefit from this watershed moment in the biological sciences.

Genomic studies provide care for children and adults with a variety of medical problems, including,

  Birth defects

  Abnormalities of newborn screening

  Inborn metabolic diseases

  Genetic syndromes

  Familial cancer syndromes

  Chromosomal abnormalities

  Many other genetic disorders

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