Breast cancer is the most commonly diagnosed cancer among American women, and about 15 % of those women who are diagnosed with breast cancer has a family member already diagnosed with it. In knowing their family history these individuals usually get a genetic testing done. The problem with genetic testing is that special training is needed in order to convey and analyze such results. You must also take into consideration the probability of a false negative and false positive.
Although genetic testing helps in early diagnosis of breast cancer, results of the genetic tests are sometimes misinterpreted causing individuals to take drastic measures. Using experiences of lab personnel, conducting interviews, and research from reliable internet sources we were able to find a solution to this growing issue. Instead of making radical decisions an individual should instead perform regular checks to insure their health. Marie mother has just been diagnosed with breast cancer and recently found out that her great grandmother had it too.
The doctor said that in order to prevent a malignancy in the other breast her mother would have to undergo a mastectomy. Being curious about the potential dangers of this surgery Marie did some research. She found out that 10-15 % of all breast cancers are familial, and that a third of all those cases are the causes of an inherited mutation. This inherited mutation is known as “BRCA1 or BRCA2 breast cancer–susceptibility gene”. Their doctor suggested that Marie get a genetic testing done to see if she had this gene. Upon receiving the results Marie’s doctor offered the many options in prevention of this disease.
The one most appealing to Marie was the same surgery her mother would undergo. What consequences will these options have on Marie’s life? Genetic testing is one of the most newest techniques that examines your DNA in order to unveil the changes in your genes that could cause illnesses or diseases. Genetic testing may be done for many reasons such as: Diagnostic testing. If you have symptoms of a disease that may be caused by genetic alterations, genetic testing can reveal if you have the suspected disorder. Presymptomatic and predictive testing.
If you have a family history of a genetic condition, undergoing genetic testing before you have symptoms may show if you’re at risk of developing that condition. Carrier testing. If you or your partner has a family history of a genetic disorder, such as sickle cell anemia or cystic fibrosis, you may choose to have genetic testing before you have children. This type of genetic testing may also be useful if you are in an ethnic group that has a high risk of a particular genetic disorder. Genetic testing can determine if you carry a copy of an altered gene that would put a child at risk of developing the disorder.
(Mayo Clinic Staff) Like any man made technology genetic testing has its limitations. A positive result in a healthy individual does not mean you can develop the disease. Alternatively a negative result does not guarantee that you cant or wont develop the disease. Because genetic testing is such a complex procedure the results can depend on many things. Accurate interpretation of the results due to special training, and also reliable laboratory procedure help in the reliability of the results. The probability of actual dependency on the results varies among the individuals.
With genetic testing being done and results interpreted that individual may have many options. Preventative (“prophylactic”) mastectomy is the most commonly used in the prevention of breast cancer. This procedure involves the removal of both breasts, and has been known to reduce the risk of breast cancer in women by about 90%. Preventive or (prophylactic) oophorectomyis the removal of both ovaries. When performed before menopause it reduces the risk by taking away the estrogen hormone . A clinical trial known as “the breast cancer prevention trial” was done in the 1900s to test the effectiveness of a hormonal therapy called Tamoxifen.
It was found that it reduced the risk from about 45-50% in women that had a high risk for breast cancer. Tamoxifen helps by blocking the effects of estrogen on breast cancer. The effectiveness of this therapy depends on the type of gene inherited by the individual (BRCA1 ,BRCA2 ). Here lies the issue, when given these options and more the individual usually assumes that they have to choose an option. Each of these prevention methods have their consequences and limitations. They all have a percentage in their effectiveness, and also provide side effects not thought over.
Although Prophylactic oophorectomy is known for being a safe procedure it can cause many complications such as intestinal blockage, and infection. Such complications are the result of a faulty procedure. As stated before prophylactic oophorectomy involves the removal of both ovaries. The removal of the ovaries reduces the amount of progesterone and estrogen hormone that circulates in the body, and either slows down or stops the growth of cancer cells. It is the removal of these hormones which causes the most damage. Bone thinning (osteoporosis). reduces the amount of bone-building estrogen your body produces.
(This may increase your risk of a broken bone. ) Discomforts of menopause. Hot flashes, vaginal dryness, sexual problems, sleep disturbance and sometimes cognitive changes are problems for some women during menopause. Increased risk of heart disease. Your risk of high cholesterol and heart disease may increase if you have your ovaries removed. Lingering risk of cancer. Prophylactic oophorectomy doesn’t completely eliminate your risk of breast cancer or ovarian cancer. . (mayo clinic) Tamoxifen can be effective for lowering the risk of occurrence for breast cancer.
“But tamoxifen does come with its share of side effects, and some are even life-threatening, such as an increased risk of uterine cancer and blood clots forming in the lungs . In the Lancet study, there were nine deaths from uterine cancer and six deaths from lung blood clots among women taking tamoxifen compared with one death from uterine cancer and no deaths from lung blood clots in women taking a placebo. ” (Katie Moisse ABC NEWS). In an interview with Alicia Staley “My doctor felt tamoxifen was definitely doing its job, but the side effects were just too much” .
Even though Tamoxifen kept the breast cancer at bay it brought on unbearable side effects. Alicia Chose to stop treatment rather than to continue living with the side effects. Side Effects such as Overgrowth of the lining of the uterus (endometrial hyperplasia) and cancer of the lining of the uterus (endometrial cancer). An increased risk of blood clots in the legs (deep vein thrombosis) and the lungs (pulmonary embolism) . Changes in the bloods ability to clot have been reported in patients receiving tamoxifen. A small increased chance of stroke . Ovarian cysts.
An increased risk of Cataract formation and the need for surgery for cataracts. The most drastic measure is Preventative (“prophylactic”) mastectomy . In my opinion has the worst consequences but also most effective. Before conducting this surgery you should research in what ways the mastectomy could lower your risk, and also consider the emotional effects that comes with the surgery. It has been researched that many women feel a loss of identity without their breasts. In trying to reduce their anxiety of inheriting this disease they perform mastectomies without considering the impact it can have on their lives.
Also there is a residual effect, even though the mastectomy can greatly “reduce the risk of breast cancer it does not eliminate the risk completely” (Genetic Health. com). Personally id rather leave the risk rather than to live with the emotional consequences in which I would lose my sense of sensuality and sexuality. All these preventative measures have its limitations, and so does genetic testing. Genetic testing only provides the patient with a glimpse of what could come and results should not be taken drastically.
The mastectomy leaves the individual with a loss of sexuality and sensuality (important to women). Tamoxifen can cause life threatening illnesses and deaths. And an oophorectomy leaves a lingering risk of cancer. So what is Marie to do provided with “solutions” to her positive test of the breast cancer gene? The solution is frequent screening schedules. Annual mammograms at age 25 or 10 years before the earliest age at which a family member was diagnosed . participation n a clinical trial of cancer prevention strategies can also help.