What is Genetic Testing:

♤ Genetic testing is a detailed analysis of the DNA, the molecular structure of the chromosomes that carries the genes responsible for all body’s functions. The technology can detect gene alterations or mutations, which are associated with certain diseases or conditions in a person and his/her relatives.

♤ Genetic tests are performed on asample of blood, hair, skin, amniotic fluid (the fluid that surrounds a fetus during pregnancy), or other tissue.

♤ In medical practice, genetic tests are requested for valid medical reasons such as to determine the possible genetic cause of a disease, predict possible future illness in a person with a family background of an inherited disorder, assess the risk of transmitting a genetic abnormality to children and predict the response to a given therapy.

♤ Genetic testing can tell you whether or not you are at a high risk for a disease like cancer, and then allow you to prevent it yet such results often lead to a quandary for both patients and doctors.

♤ These tests might provide a positive (disease is present) or a negative result (absence of the gene mutation) and also give an inconclusive result (test is not interpretable).

♤ For some illnesses, a positive or negative outcome is straightforward and irrefutably confirms or rules out the genetic abnormality. However, for many other genetic tests, the positive result indicates that while the individual has a higher risk of developing the disease, it does not mean that he/she will eventually get it.

♤ Likewise, the negative test stresses a low risk for the disorder but does not rule out development of the disease later in life.

♤ Without proper advice, the result can trigger important emotional issues, irrational behaviour (such as stopping screening when the result is negative) and/or social implications such as tense family relationships when a gene problem is diagnosed. In France, for example, generic testing is highly regulated.