Medicine and Genomics

MEDICINE AND GENOMICS

One of the greatest applications for human genomics data is in disease and diagnoses. Medical applications of genomics are abundant and the remaining chapters of this session cover some of these. Gene testing is the most common present application. Once genes have been associated with particular diseases, people can be screened for genetic mutations within the gene. Such tests can diagnose diseases such as muscular dystrophy, cystic fibrosis, sickle cell anemia, and Huntington’s disease because these are strictly inherited disorders. In diseases with an environmental component, genetic testing offers information that may change how a person lives his or her life. Perhaps those with a genetic predisposition to colon cancer will have more screenings, earlier than usual, and perhaps alter their diet to minimize the chance of cancer developing. Other applications include gene therapy.