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    Genetic Screening and Prevention: A Case Study

    Mary Jane Smith is a 30 year old mother of two young boys who has recently lost both her mother and an older sister to breast cancer. After learning about the development of a test for determining one's susceptibility to a particular form of breast cancer, Mary decides to have the test done. The gene for which Mary was tested is responsible for causing 4 percent of the breast cancer diagnoses. Women who test positive for this genetic mutation have an 85 percent chance of developing breast cancer by age 80.

    Mary's test came back positive. She was given two possible courses of action. Either she could have both of her breasts removed as a form of prevention, or she could continue to have regularly scheduled follow-up visits and check-ups.

    Mary decides to have the operation and have a double mastectomy. She decides on this course of action so that she can have some "peace of mind."

    Removing the breasts does not completely eliminate the risk of cancer. Although a person may have the breasts removed, the gene that is responsible could still present in the body.

    Discussion questions:
    1. Do you think Mary has made the right decision? Why or Why not?
    2. Do you consider the operation to be a form of preventive medicine? Why or why not?
    3. Many find Mary's approach "extreme" because genetic testing is so novel. Share a study regarding genetic screening that might shed some light on this issue. Please comment on your findings.
    4. Some insurance plans cover BRAC testing and some do not. From an epidemiological perspective, why is this so?
    5. APA Format with viable references.

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    Solution Preview

    I've attached the discussion.

    1. Many studies have shown that a mastectomy is not effective when there is already a tumor present. One study showed that the long-term survival rate among women who undergo breast-conserving surgery is the same as that among women who undergo radical mastectomy (Veronesi et al., 2002). This longitudinal study found that after a median follow-up of 20 years, the rate of death from all causes was 41.7 percent in the group that underwent breast-conserving surgery and 41.2 percent in the radical-mastectomy group (P=1.0). The respective rates of death from breast cancer were 26.1 percent and 24.3 percent (P=0.8) (Veronesi et al., 2002). However, other studies have shown that prophylactic mastectomy was associated with a reduction in the incidence of breast cancer of at least 90 percent (Hartmann et al., 1999). Thus, in women with a high risk of breast cancer on the basis of family history, prophylactic mastectomy can significantly reduce the incidence of breast cancer. Therefore, the information of effectiveness of mastectomy is highly variable and there is still much uncertainty surrounding the procedure. However, the overall consensus is that there is a somewhat higher risk of developing a local recurrence of the cancer after lumpectomy than after mastectomy. However, local recurrence can be treated successfully with mastectomy. However, mastectomy is very effective at reducing the chances of breast cancer from arising in people with a history of breast cancer.

    Women with a high risk for breast cancer have the options of surveillance, chemoprevention, and prophylactic mastectomy. Overall, Mary likely made the right choice in getting a mastectomy as it is extremely effective and reduces the risk of getting breast cancer (Hartmann et al., 1999). There is still the issue that it is not completely certain that this procedure will protect an individual woman from breast cancer. Breast tissue is widely distributed on the chest wall, and can sometimes be found in the armpit, above the collarbone, and as far down as the abdomen. Therefore, removing the breasts does not guarantee complete elimination of risk of breast cancer. The decision may have ...

    Solution Summary

    The genetic screening and prevention case study are examined.