Genetic testing is carried out for many different reasons the main ones being as follows.

  1. Diagnose a suspected condition
  2. Identify healthy individuals who are carriers (and have a risk of having a child affected with a disorder)
  3. Pre symptomatic diagnosis (to identify people who will develop a disease later in life)
  4. Prenatal diagnosis (identify pregnancies at risk of a genetic disease)
  5. Pharmacogenetics: identify people who are likely to respond well or adversely to a specific treatment.
  6. Cancer genetics: tests are performed in some patients to decide on the type of their cancer and the need for specific therapies
  7. Some people are at risk of an inherited predisposition to cancer and genetic testing for this could be included in either (1) or (3) above.
  8. Some laboratories are offering genetic screening to decide if a person is at risk of developing a host of different diseases using whole genome screening (see below) for healthy individuals.
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