Genetic Testing

Pros and Cons

By Hayden, Ethan, Ankith


Genetic testing is a type of medical test that identifies changes in chromosomes, genes, or proteins. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person’s chance of developing or passing on a genetic disorder. More than 1,000 genetic tests are currently in use, and more are being developed.

Several methods can be used for genetic testing:

  • Molecular genetic tests (or gene tests) study single genes or short lengths of DNA to identify variations or mutations that lead to a genetic disorder.

  • Chromosomal genetic tests analyze whole chromosomes or long lengths of DNA to see if there are large genetic changes, such as an extra copy of a chromosome, that cause a genetic condition.

  • Biochemical genetic tests study the amount or activity level of proteins; abnormalities in either can indicate changes to the DNA that result in a genetic disorder.

Genetic testing is voluntary. Because testing has benefits as well as limitations and risks, the decision about whether to be tested is a personal and complex one. A geneticist or genetic counselor can help by providing information about the pros and cons of the test and discussing the social and emotional aspects of testing.


    Genetic Testing can..

    • Diagnose diseases

    • Identify gene changes that are responsible for an already diagnosed disease

    • Determine the severity of a disease

    • Guide doctors in deciding on the best medicine or treatment to use for certain individuals

    • Identify gene changes that may increase the risk to develop a disease

    • Identify gene changes that could be passed on to children

    • Screen newborn babies for certain treatable conditions
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    • If you learn that you've passed on an abnormal gene to your children, you may feel guilty and worried. (Yet such knowledge may also prepare you for helping your children cope with their genetic information.)

    • You could face discrimination — in getting insurance coverage or employment — based on your genetic information. So far, however, discrimination related to genetic information has not proven to be a major problem. In 2008, the Genetic Information Nondiscrimination Act (GINA) was signed into law. It protects Americans against discrimination based on their genetic information when it comes to health insurance and employment.

    • Genetic testing might not the precise answers about inherited diseases. A positive result may not always mean you will get the disease. On the other hand if you get a negative test result that doesn’t mean you have no risk at the disease. They may also be flawed or wrong.

    • You might have to take counselling so if you end up with a positive result you know how to react. The test results might also affect future relationships with a spouse or other family members, which can be stressful, too.

    • People who do not receive adequate information or counseling about the limitations of genetic testing may falsely assume that a negative test result eliminates their risk for developing a disease

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