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Genetic and DNA testing
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Why is genetic testing a potentially powerful tool in medicine?
Mutations in the genes an individual is born with can result in genetic disorders that may cause problems at birth, in childhood, in adolescence, in adulthood or very late in life. Some gene changes do not cause health problems for the individual but may cause health problems for their children. Genetic testing allows genes to be examined for mutations. This information can be used to work out the chance of a disorder developing for that person in the future or the risk of a genetic disorder occurring in the person’s children.
Gene mutations that cause health problems are quite rare, so genetic tests are only recommended when there is a history of a genetic health problem in the family. Blood relatives share regions of their DNA with each other. If one member of a family is found to have a genetic mutation, other members of the family may also have the same mutation. If the mutation causes health problems, then the health of other family members could be at risk. Doctors usually encourage people to share this type of information with their family so that other members can seek medical advice as appropriate.
