What are genes and how are they related to disease?
Segments of DNA are genes. They are found in chromosomes & they control growth & help one stay healthy. Sometimes, when they are damaged or abnormal, they may not work rightly, which may lead to any disease. Some of genetic abnormalities, or “gene mutations,” may also run in the families. Some only happen by chance. Often one mutation can cause a person to have a disease, but many of diseases are caused and occurred by combination of genetic & environmental factors.
What is genetic testing?
It is a kind of medical test which identifies changes in chromosomes, genes, and proteins. The results of such genetic test confirms or rule out a suspected genetic condition or aid determine the chance of a person of developing or passing on any of genetic disorder. More than thousand genetic tests are currently in use, & more are being developed. Various methods can be used for such (genetic) testing:
1):- Molecular genetic ( or gene) test: It studies every single genes or short lengths of DNA to determine variations or mutations which lead to any genetic disorder.
2):- Chromosomal genetic tests: It analyzes whole / all of chromosomes or long lengths of DNA to check if there are some large genetic changes, like an extra copy of a chromosome, which cause a genetic condition.
3):- Biochemical genetic test: It studies the amount and activity level of proteins; abnormalities in either can determine changes to the DNA which result in a genetic disorder.
This testing is voluntary. Because testing has benefited as well as limitations & risks, the decision about whether to be tested or not is a personal & complex one. A geneticist / genetic counselor can aid by providing information about the pros & cons of the test & discussing the social & emotional aspects of testing. This testing help to show if one has inherited a tendency to get particular diseases or not. A sample of blood or a sample of skin is usually needed for this testing.
What does a positive test result mean?
If the result of the test of one is positive it means that one has the mutation which one has been tested for. If one has a positive test result, it means one may be more likely to get a particular disease than other people, but it does not mean that one will definitely get the disease.
What does a negative test result mean?
If the result of the test of one is negative it means that one does not have that particular mutation. This may also mean that disease does not run in one’s family. A negative result does not mean you would not the disease. It merely means that one is not more likely to get the disease than most of other people are.
Who should be tested?
By deeply looking at one’s family history, one’s doctor can tell if one is likely to have a gene mutation which may contribute to disease. A disease might run in one’s family if a blood relative developed any such disease at a young age or if lots of family members have that such disease. Persons from some ethnic groups may also be more likely to get some diseases. If one’s any one family members already has the disease, such person should be tested first. This helps in showing which genes, if any, are actually associated with the disease.
How you decide if you could get tested or not?
If one thinks one may be at high risk for an inherited disease, one must talk to one’s family doctor. That doctor will ask some questions about one’s health & the health of one’s blood relatives. This information will help that doctor in finding out that what one’s risks might be. The information that doctor gives one about one’s risks can help one decide whether one want to be tested or not.
These are two necessary questions one should think about before one goes through such genetic testing:
- What can be gained by being tested?
Here are few reasons one might want genetic testing:
- One might not be so worried about getting any such disease.
- One might be able to alter one’s lifestyle to reduce one’s risk of getting a disease.
- One’s doctor will know how often to check one to see if a disease is developing.
- One might be able to take medicine to keep away the disease.
- Are there semi negative effects of testing?
Here are few reasons one might not want to know that one could be at risk for a certain disease:
- Testing can make one more worried about getting sick.
- Testing can give one stress or make one feel guilty .
Testing can lead to few problems with employers or i