Medical Genetics

Impact of Genetics on Health and Disease

It is estimated that 3-7% of the general population will be diagnosed with a recognized genetic disorder. This does not include common disorders such as cancer, diabetes, heart disease, and psychiatric disorders.

All diseases or medical conditions have a genetic component (except trauma).

Understanding how variations in an individual’s DNA may affect disease and health is the focus of genomic medicine. This knowledge can lead to:

  • Innovative ways to diagnose disease
  • Earlier detection,  by identifying genetic predisposition to a particular disease
  • New approaches to treatment
  • Development of designer drugs that target a mutation or its products (pharmacogenomics)

Common Terms in Medical Genetics

Genetics is the study of genes and their effects.

Genomics is the study not just of single genes but of the functions and interactions of many genes in the genome.

Medical genetics is any application of genetic principles to medical practice. This includes studies of inheritance, mapping disease genes, diagnosis and treatment, and genetic counseling.

Pharmacogenetics is the study of how drugs affect the body with respect to specific genetic backgrounds. Knowledge of these effects can improve effectiveness of drugs and minimize side effects on an individual –patient basis.

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