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Keywords:

  • genetic testing;
  • congenital hearing loss;
  • sickle cell disease;
  • Usher syndrome;
  • pediatric nursing

Purpose: To describe the effects of genetics and genomics on children's health care.

Organizing Construct: The breakthroughs in the Human Genome Project have great potential for disease prediction, treatment, and prevention in the health care of children with chronic health conditions. Most childhood conditions based on a single gene are influenced by a complex interaction of genetic and environmental factors.

Methods: A review of the literature was conducted to determine the most common childhood diseases linked to genetic causes.

Findings: Two examples were selected to depict how a health professional would use genetic knowledge to provide holistic health promotion and disease prevention.

Conclusions: Knowledge of the interaction of the genetic profile coupled with a person's lifestyle, work environment, and family context provide a more holistic picture of a person's health profile. The clinical implications are that this knowledge will provide opportunities for health professionals to advise families on individualized treatment options or to tailor health promotion to future disease states based on genes and their interaction with the environment.