Introduction:


Genes which code for all the proteins required for the body to function normally are passed on from parents to their child. Genes are responsible for hair color, eye color, height and also other physical attributes of a child. Genes can also be used to detect whether an individual is likely to develop some dangerous diseases like cancer.

Genes which is situated in the 23 pairs of chromosome play important role in the development of cancer. Mutations that occur in genes are responsible for the condition known as cancer. Mutations in several genes are required to become a normal cell into a cancerous cell. Only small percentages of inherited mutated form of genes are responsible for cancer induction.

Genetic testing is done to see if an individual is at risk for certain types of diseases like cancer by looking for certain gene mutations. Genetic testing is also used to confirm gene mutation present in an individual or in a family.

Genetic Testing Process:

1. First risk of a person to develop certain form of genetic disease is assessed. The risk assessment is done by studying the pattern of disease in a person's family. Family history is used to find out how the genetic condition is presented itself in that particular family is understood first by a doctor, nurse or genetic counsellor.

2. If a person and his family are at great risk then the genetic counsellor will help in understanding about the genetic condition, such as how to manage and deal with the condition.

3. After this the written consent should to given to test for genetic makeup of you.

4. Genetic test are done for the prone genetic disease conditions. Genetic testing are done using blood sample, hair, skin or other tissues.

5. After genetic testing result is sent to doctor or genetic counsellor and they will make sure that the person and his family are well equipped with information to face that particular genetic disease.

Application of Genetic Testing:

1. Genetic testing can be used to detect the gene mutations, which can increase risk of getting some disease in a person. This is called as predictive gene testing. This kind of testing is done in families with history of inherited form of diseases. For example genetic testing for the mutations in the gene BRCA1 and BRCA2 in a woman whose mother and sister suffered or had breast cancer.

2. Genetic testing can be used to help couples to learn chances of inheriting mutated forms of genes present in them or in their family to their children. This kind of genetic testing is called as carrier testing, this can be used to detect the chances of transferring genetic mutations which cause diseases like cystic fibrosis, Tay-Sachs disease or sickle-cell anaemia and much more.

3. Genetic testing can be done on unborn baby or foetus to check some genetic conditions like Down syndrome and this type of genetic testing is called as prenatal screening.

4. Genetic testing can be done in newborns to screen for inherited forms of some conditions like phenylketonuria, sickle cell anaemia and this kind of testing is called as newborn screening.

In all the forms or types of genetic testing, doctors look for gene mutations that are present in every cell of an individual, and these changes in the gene are transferred from one generation to another, that is from parents to their children.

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