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The Value and Uncertainly of Genetic Testing in Medicine Paper

The Value and Uncertainly of Genetic Testing in Medicine

    Doctors have many resources in regard to medical testing. They can test for an existing disease, or they can test for the possibility of developing a disease. Routine genetic testing can aid in reproduction decisions, assist a doctor in making a diagnosis, and most importantly, encourage patients to live a healthier life in order to avoid diseases to which they are genetically predisposed. On the other hand, the results of such tests can leave one open to denial of insurance claims and general genetic discrimination. While the consequences of such testing may be unpleasant, insurance companies and family members have a right to know the results. Genetic testing for medical purposes should only be undertaken when the patient is willing to accept the responsibility to inform all affected parties of the outcome of the tests.

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    Responsible adults who wish to become parents can be tested for conditions that can be passed down to their children. Currently, those of Jewish descent are tested for Tay-Sachs, and individuals with a history of cystic fibrosis in their families avoid reproducing together. Currently, there are over 400 conditions which can be detected through the use of genetic testing.

Today we test for one trait at a time. In the future, however, with advances in biochip technology, it will be possible to test simultaneously for as many traits as one would like (Parens, 1993).

The benefit of simultaneous testing is that parents don’t have to know what to look for – the doctor can offer a test package that includes a predetermined set of diseases or mutations for which to be tested. In the event that a pregnancy is already underway, genetic testing can give parents the option of either discontinuing a pregnancy, or to prepare themselves with the resources to care for a future sick child. The drawback to this kind of testing is the possibility of increased abortions. Given the current political environment and the widespread anti-abortion sentiments, genetic testing that leads to more abortions might lead to a move to prevent prenatal genetic testing altogether.

    Genetic testing on babies can provide doctors with a diagnosis that would otherwise be difficult to ascertain. Babies, after all, cannot tell a doctor where it hurts, so a child that shows strange symptoms can be tested to determine what is actually wrong. Adults can use it to confirm a diagnosis; or to confirm that a condition is genetic rather than environmental. One such example is that of breast cancer. Lois Mayer of Crete debated what to do about her recurring cancer until she received genetic counseling and testing. Once it had been confirmed that she carried two important genetic mutations that lead to breast cancer, she opted to have both breasts surgically removed to minimize her risk of dying (Testing Genes Gives Patients Early Look at Cancer Possibility). Patients who undergo genetic testing that are undergoing genetic testing must be aware that their condition  may or may not lead to therapy or preventive measures. It all depends on the availability of therapy for each particular disorder (Davis, 2001, p. 260). The decision to have the testing much be weighed with the fact that the information gained from genetic testing will also have an affect on the patient’s family members. They may have the same genetic mutation and have to decide whether to be tested. Patients must consider what is best for their families as well as themselves when getting tested.

    In spite of the benefits of genetic testing, there are dangers. One such danger is that the results of the testing will be made available to insurance companies – this could mean financial disaster for those who test positive for genetic mutations leading to cancer, Alzheimer’s and Huntington’s. Huntington’s disease is a disorder that causes progressive physical and neurological deterioration. An individual with Huntington’s usually begins to notice symptoms between the ages of thirty-five to forty-five years old. There is no current cure, or even a treatment (Radetzki, 2003, p.15). Currently, individuals who have family members with Huntington’s are often denied insurance until they have been tested for the dominant gene. Should they prove to have it, they are either denied health or life insurance, or all symptoms of Huntington’s become a pre-existing condition for which they will not be covered.

    The other side of the insurance debate it is unfair and financially unsound for an insurance company to provide coverage when they do not have the same access to information as the insured. The two issues are whether or not the insurance company has the right to demand genetic testing, and if they are entitled to the information if the insured is tested independently. Under current law, an insurance company cannot demand genetic testing; it simply hasn’t been considered yet. They can, however, deny coverage based on pre-existing conditions. Insurance companies use the healthier groups of insured patients to balance out the extra coverage needed by the groups who incur costlier health care (Laurie, 2002). While it is the responsibility of the company to remain profitable in order to be able to afford to provide coverage to all of its insured, it is not their responsibility to provide coverage to everyone.

    Some states have passed laws in regard to genetic testing as a precondition for employment. Approximately thirteen states prohibit employers from requiring applicants to undergo genetic testing; the state of Florida prohibits screening applicants for the sickle-cell trait (as it can be construed as race discrimination). Wisconsin requires employers to obtain written and informed consent from applicants prior to administering genetic tests, but does not forbid the testing as a whole. There are times when employers need to test applicants, one such example is a genetic test for chronic berrylium disease, which is caused by exposure to certain toxins in the workplace. There have been a few cases where employees have filed claims against their employers for not incorporating this kind of testing in pre-employment physicals (Legislation and Genetic Discrimination).

    The future possibility of genetic discrimination may prevent many at risk for disease from getting tested. A research study asked 300 medical professionals what safeguards could be used to protect oneself against genetic discrimination. The majority said they would pursue genetic testing for breast or colon cancer, but only if they were at least at a 50 percent risk to carry the mutated gene. Another 68  percent said they would pay for the testing in cash rather than have it billed to their health insurance company or leaving a credit card trail and 26 percent would use an alias so that it could never be traced back to them. (Mehlman, 1998).

    In conclusion, the decision to undergo testing for diagnostic purposes must go hand in hand with the responsibility to share the information with all interested and affected parties. In spite of an interest in retaining one’s privacy, one should not forget that genetic testing for medical purposes has many benefits. An individual can determine what conditions might be passed to offspring, they can be aware of a disease that they might develop in the future, and they can use the information to determine whether or not to continue a pregnancy. One can inform a family member that they, too, should get tested. Individuals must be aware that once the information is out there; there is no taking it back. Insurance companies and employers may have just as much right to the information as the individuals themselves.

Works Cited:

Davis, J. B. (Ed.). (2001). The Social Economics of Health Care. London: Routledge.

Laurie, G. (2002). Genetic Privacy: A Challenge to Medico-Legal Norms. Cambridge, England: Cambridge University Press.

Legislation and Genetic Discrimination. (2001). Journal of Law and Health, 16(1), 47+.

Mehlman, M. J., & Botkin, J. R. (1998). The Challenge to Equality The Challenge to Equality. Washington, DC: Georgetown University Press.

Parens, E., & Asch, A. (1999). The Disability Rights Critique of Prenatal Genetic Testing. The Hastings Center Report, 29(5).

Radetzki, M., Radetzki, M., & Juth, N. (2003). Genes and Insurance: Ethical, Legal, and Economic Issues. Cambridge, England: Cambridge University Press.

Testing Genes Gives Patients Early Look at Cancer Possibility. (2005, March 24). Daily Herald (Arlington Heights, IL), p. 5.

 

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