Uses of Genetics

The potential for understanding human genetics increased greatly when the scientists behind the Human Genome Project successfully identified and mapped all the genes on human chromosomes in 2003. Genetic techniques can be used to study individual genes to learn more about specific disorders. For example, some kinds of disorders that have been classified based on what symptoms they caused have been reclassified based on what the genetic abnormality is.

Genetic tests are routinely used to diagnose certain disorders (for example, hemochromatosis and chromosome disorders such as Down syndrome and Turner syndrome).

Genetics is also increasing the ability to predict what disorders a person is likely to develop. For example, women with certain abnormalities in the BRCA genes are prone to breast cancer and ovarian cancer. These predictions may allow disease prevention and screening to be tailored much more to each person.

Advances in techniques that assess people’s genetic characteristics and increased understanding of human genetics have improved diagnosis of genetic disorders before birth. In some cases, genetic disorders that are diagnosed before birth can be treated after birth or sometimes before, which prevents future complications. For example, corticosteroids given to the mother before birth may decrease the severity of a type of genetic hormone deficiency in the offspring.

Genetic screening can be used to counsel parents about the risks of passing on a genetic disorder to their offspring. Screening can also be used to detect abnormalities in a fetus (Prenatal Diagnostic Testing).

Increased understanding of human genetics has the potential to predict how people, depending on their precise genetic makeup, will respond to certain drugs (Genetic Makeup and Response to Drugs

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