Clinical genetics

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Clinical genetics is a branch of medicine that involves the diagnosis and management of hereditary disorders. Clinical genetics involves the application of genetic principles in the care of patients.

Pronunciation

  • Clinical: /ˈklɪnɪkəl/
  • Genetics: /dʒɪˈnɛtɪks/

Etymology

  • Clinical: Derived from the Greek word "klinike" which means "bedside". In the medical context, it refers to the observation and treatment of actual patients rather than theoretical or laboratory studies.
  • Genetics: Derived from the Greek word "genetikos" which means "genitive" and "genes" which means "born". In the context of biology, it refers to the study of heredity and the variation of inherited characteristics.

Related Terms

  • Genomics: The study of the genomes of organisms.
  • Molecular genetics: The field of biology and genetics that studies the structure and function of genes at a molecular level.
  • Genetic counseling: The process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease.
  • Genetic testing: A type of medical test that identifies changes in chromosomes, genes, or proteins.

Overview

Clinical genetics encompasses many different areas, including genetic counseling, genetic testing, and genetic therapy. These services can help patients and their families understand and cope with genetic disorders. Clinical genetics can be used to diagnose, treat, and prevent genetic diseases.

Diagnosis

In clinical genetics, diagnosis involves identifying or determining the nature and cause of a certain disease or condition through evaluation of patient history, examination, and the use of diagnostic tests. This often involves genetic testing to identify changes in chromosomes, genes, or proteins that may be associated with a hereditary disorder.

Treatment

Treatment in clinical genetics can involve a variety of strategies, including medical management to treat symptoms, genetic counseling to understand and cope with the condition, and in some cases, gene therapy to correct the underlying genetic defect.

Prevention

Prevention of genetic disorders can involve a variety of strategies, including prenatal testing and preimplantation genetic diagnosis to identify genetic disorders in embryos.

See Also

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