Genetic Testing for Disease Risk
Genetic testing is an advanced diagnosis technique doctors and researchers use to test for genetic disorders that can cause diseases and other medical complications. Genetic testing can be done by direct analysis of the DNA molecule or by testing enzymes, proteins, and chromosomes. Gene testing can help doctors diagnose a disease, provide the correct treatment, and can inform parents of the risk of having children with devastating diseases.
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Which Diseases Can Be Tested?
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Tests exist for over a thousand diseases. Contact GeneTests (see reference 1), a publicly funded medical genetics website, for more details on genetic testing facilities and availability. Devastating diseases like Alzheimer's, hemophilia, Huntington's, Sickle cell, and Tymothy syndrome are among the many illnesses for which testing exists.
Law
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Gene testing in the United States is not regulated. There are no rules or guidelines to measure the accuracy or reliability of gene testing. This is because gene testing is considered by laboratories as a service, which is not regulated by the Food and Drug Administration (FDA). Unfortunately, some companies are taking advantage of this lack of control to market test kits they claim not only test for disease but also help customize food, vitamins, and medicine for each individual. These are dubious claims to say the least. If you are thinking of buying one of these kits, check first for their reliability and usefulness.
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Costs
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Gene tests cost from $200 to $3,000. Genetic testing costs between $200 and $3,000. Insurance companies do not usually cover gene testing. If they do, they will want access to the results. You have to decide whether you are happy with that because legislation about genetic information nondiscrimination laws is sketchy and unclear (see reference 4 for a list of current legislation).
Limits
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Gene testing is an effective research and diagnosis tool. However, like any scientific tool it is not perfect. Errors can be made during lab work through contamination or misidentification. There are also doubts linked to the cause and effect of a disease-associated mutation. A positive test for a specific disease-associated mutation tells doctors the risk of contracting the disease is high. However, it does not mean the individual will necessarily contract the disease.
Screening Embryos
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Embryos can be tested before they are implanted into the mother's womb. Doctors can test embryos with a PGD test (preimplantation genetic diagnosis). This test screens the embryo for genetic defects before they are used in in-vitro fertilization. It gives doctors the option of implanting only mutation-free embryos into a mother's womb.
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References
Resources
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