Uses of Genetics in Health Care

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 pregnancy or 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 medications (Genetic Makeup and Response to Medications). For example, specific genes can predict how much warfarin, an anticoagulant ("blood thinner"), a person is likely to require. This prediction is important because taking too much warfarin can cause serious bleeding and taking too little makes the medication ineffective, which is also risky. ). For example, specific genes can predict how much warfarin, an anticoagulant ("blood thinner"), a person is likely to require. This prediction is important because taking too much warfarin can cause serious bleeding and taking too little makes the medication ineffective, which is also risky.

Gene analysis can also predict whether a person will have intolerable or only minor side effects when taking irinotecan, an anticancer agent. People likely to have intolerable side effects can be treated with a different medication. Gene analysis can also predict whether a person will have intolerable or only minor side effects when taking irinotecan, an anticancer agent. People likely to have intolerable side effects can be treated with a different medication.

Gene analysis can also determine how quickly people metabolize and thus respond to codeine, an analgesic. People who metabolize codeine rapidly can accumulate high levels of a metabolic byproduct of codeine that impairs their unconscious drive to breathe. This effect of rapid metabolization resulted in the death of some children who were given codeine after tonsillectomy and adenoidectomy were done to treat obstructive sleep apnea. Gene analysis can also determine how quickly people metabolize and thus respond to codeine, an analgesic. People who metabolize codeine rapidly can accumulate high levels of a metabolic byproduct of codeine that impairs their unconscious drive to breathe. This effect of rapid metabolization resulted in the death of some children who were given codeine after tonsillectomy and adenoidectomy were done to treat obstructive sleep apnea.

The genetics of diseased tissue (such as cancers) can help drug manufacturers identify more precise treatment targets when developing drugs (such as anticancer agents). For example, the anticancer agent trastuzumab can target specific cancer cells in breast cancers that involve the breast cancer gene The genetics of diseased tissue (such as cancers) can help drug manufacturers identify more precise treatment targets when developing drugs (such as anticancer agents). For example, the anticancer agent trastuzumab can target specific cancer cells in breast cancers that involve the breast cancer geneHER2/neu.