• Genetic Testing: Look Before You Leap

    IMAGE Genetic testing can give you valuable and even life-saving information. But it can also alter your relationships with family members, complicate your insurance and employment status, and confront you with tough, perhaps unanswerable, questions. We hear more about the link between genes and disease everyday. If there is evidence of an inherited condition in your family history, a genetic test may be able to provide you with valuable information. The tests can provide information on your own risk, or your child's risk, for an illness.
    There are only a few inherited disorders that can give you a simple yes or no test. The more common test result is an estimate of your risk for developing a disease. The results and the options open to you after your test will vary depending on the particular condition for which you are tested. So take heed before you lift the veil from your genetic profile.

    Beyond the Results

    Results aside, other issues that may come up concerning genetic testing include:
    • How long it takes to get the test results
    • How accurate are the test results
    • The need to test other family members
    • The current status of treatment for a condition
    • The prospects for improved treatment
    • The cost of testing
    • Your age and circumstances
    • What choices you will have once you have your results
    And it doesn't stop there. The impact of genetic testing on your life can be like giving a good twist to a kaleidoscope—mostly the same pieces, but with quite a different image. And once you twist that kaleidoscope, there's no going back to the previous view.

    Find a Guide

    If you are considering having a genetic test, consult with a genetic counselor first. These specially-trained, certified health professionals can guide you through the numerous decisions, interpretations, and options of genetic testing. Most hospitals have certified genetic counselors on staff or you can contact the National Society of Genetic Counselors to find a board-certified counselor in your area.

    To Test or Not to Test

    The first question a genetic counselor can help you with is whether or not to have the test. People seek out tests for many different reasons. A new diagnosis in the family, a news article, or even a suggestion from a doctor can start a quest for answers. In the end, you will need to decide whether or not to go through with the test. In many cases, risk of a disease was overestimated and talking with a counselor can put things back into perspective.
    However, there are several scenarios in which genetic testing may be considered appropriate:
    • Genetic markers that are associated with a family or racial history of a genetic disorder
    • Women who are pregnant after age 34
    • Couples who already have a child with a genetic disorder, intellectual disability , or a birth defect
    • Women who have had two or more miscarriages or whose babies died in infancy
    • Couples who would like testing or information about genetic disorders that occur frequently in their ethnic group or family
    • Couples who are first cousins or other close relatives

    Deciphering the Results

    If you decide to go ahead with the test, a counselor can help you interpret the results and define your options. Testing positive for a genetic mutation associated with a specific disease only means that you are at some risk for getting the disease, not that you will develop it. If you do test positive, available treatments and preventive measures will vary depending on the disease.
    Negative results are no less complex. A negative reading does not guarantee that you will not develop it, since many dieases are caused by any number of gene defects. One study that found many people who tested negative for an inherited form of colon cancer stopped being screened for the disease altogether. The test gave them the impression that they would never get colon cancer. Of course, this is not the case. Testing negative does not mean you should stop getting screened for diseases at the appropriate time.

    Family Matters

    Genetic testing doesn't affect just you. By definition, this is about families. At the minimum, you will need to provide a detailed and complete medical history of your family. Other family members may need to be tested as well. This is called a linkage test and is used when there is no direct test for a condition. Linkage tests use genetic information from other family members to better identify the genetic marker for a condition. Which, and how many, of your relatives will need to be tested depends on the condition and what its inheritance pattern is. Still other relatives may become involved as you may have to decide whether or not to tell them they are at risk for the illness. Who else should know—and what will they do? You may also encounter key family members who refuse any genetic testing, which may leave you unable to find what you are looking for.

    Points to Ponder

    Genetic testing has great power for revealing information that can change the lives of individuals, families, and entire societies. Like many other technologies, genetic testing poses ethical, social, and legal questions about how to balance an individual's right to privacy against society's need to protect itself. Other controversies surrounding genetic testing include sex selection, presymptomatic testing of children, and whether or not to warn third parties or to re-contact patients when new information on their genetic status becomes available.
    There is no doubt that for some people genetic testing can be beneficial. But in this information age, the effects of unintended consequences require as much consideration as do the potential benefits.


    Genetics Home Reference http://ghr.nlm.nih.gov

    National Society of Genetic Counselors, Inc. http://www.nsgc.org


    Health Canada http://www.hc-sc.gc.ca

    The Society of Obstetricians and Gynaecologists of Canada http://www.sogc.org


    Frequently asked questions about genetic testing. National Human Genome Research Institute website. Available at: http://www.genome.gov/19516567. Updated April 30, 2013. Accessed January 30, 2014.

    Genetic testing what it means for you and for your family's health. http://www.genome.gov/Pages/Health/PatientsPublicInfo/GeneticTestingWhatItMeansForYourHealth.pdf. Published August 2007. Accessed January 30, 2014.

    Weitzel, J. The current, social political, and medical role of genetic testing in familial breast and ovarian carcinomas. Curr Opinions in Obstet Gynecol. 1999;11:65-70.

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