English Final

Dec 03, 2008 00:59


Marie Burrell

Hasty

English 1100 11:00

November 30, 2008

Genetic Screening in Breast Cancer

Everything from ancestry to predetermining genetic disorders can be done using by genetic screening or testing. Genetic screenings can determine whether a person is at risk for certain diseases, such as breast cancer or telling patients their blood type.  Much of genetic screening in the medical world is used to try and treat existing diseases with the introduction of gene therapy once genetic screenings have identified what genes predispose a disorder. Educating the public about genetic screenings would better the chance at survival in breast cancer among women.

In today’s world, genetic screening is commonly used to identify whether a person is at risk for breast cancer. Many medical professionals are looking at specific mutations in genes as “genetic testing is now increasingly incorporated into the pretreatment diagnostic workup of patients with breast cancer and a family history,” (Roukos, Dimitrios). Screening has become more widely used to identify breast cancer because many patients fear having to go through more aggressive surgery or may have a new strain of the cancer along with a possible family predisposition. “Microarrays-based global gene-expression profiling studies of primary tumor have revealed several molecular subtypes with different pathological, clinical and prognostic characteristics…,” (Sotiriou and Piccart). Breast cancer genes are mutating into other forms, with many markers, making it beneficial for women to get screening to see if they are at risk or carriers of a specific gene. Genetic screening provides and opening for oncologists to track mutations.

For the patients, cancer screening is a”preference-sensitive” decision, (Ropka, Phillips and Wenzel). Screening must be weighed on whether they will be able to face the implications that testing may bring and possible surgery. Decision Aids (DA), those who are there specifically to help women make the decision to get tested and to help with the patient’s understanding of risks and benefits were created and implemented and are beneficial for those making the decision for breast cancer screening and treatment. The more women know about how to treat their cancer, if the screening predicts that they are vulnerable to it, will then have available choices other than mastectomy, like radiation therapy have.  There has been an increase in survival rate in women with breast cancer as they become more familiar with their options and get early screenings.

Currently, the BRAC1 and BRAC2 gene mutations are the main focus on breast cancer screening. These two genes are common with familial breast cancer and which could ideally be avoided with proper genetic screening and advance knowledge. More than a million women worldwide are diagnosed with breast cancer every year and according to Rukos, Paraskevaidis, and Agnantis, approximately 25% of all breast cancer is familial. The mutated breast cancer genes count for almost 5% to 10% of the twenty-five percent familial cancer. Familial cancer is a result of one’s genetics and environment.

Women who are found to be at risk to the BRAC1 and BRAC2 genes should be screened and consult for more information. Almost 20% of heredity cancer is also familial cancer. Today, genetic screenings have become widely popular and many other providers other than doctors perform them, leading to confusion between doctors and patients. Patient’s privacy may also be breeched with genetic tests that are not given my appropriate facilities.

Genetic tests have somewhat become direct to consumer available. According to Kenneth Offit, “the unregulated and invalidated introduction of genomic self-testing may undermine physicians' efforts to secure public confidence and acceptance of this vital component in the emerging field of "personalized" medicine. The public may not be able to interpret the tests and their confidence in it and the doctors may decrease.

That is why there are many privacy laws on genetic information and some states have standards for laboratories certified for genetic testing. Organizations like the American College of Medical Genetics highly advise against genetic testing without counseling. Many laboratories who offer screenings recommend counseling to their patients. Along with the genetic screenings comes a host of questions (Couzin). The subject of environmental factors along with mutations comes into play. Smoking, especially for women over 50 increases the cancer risk by 6% as well as other outside causes.

There are currently two stages of genetic screening for breast cancer. The first is a blood sample from a patient for a “mutation search.” Testing in individuals who are already affected by breast cancer can help further map out a women risk for future risks. Even if there is a family history, the mutation search may result as inconclusive as there mutations may not be found. The second stage is if a mutation is found in a family member, other members can get a “predictive” test to see if they too, carry the mutated gene. Women who are carriers of the BRAC1 or BRAC2 genes have a lifetime risk of developing breast cancer of 50-85%... with her offspring having a 50% chance of carrying the same mutation,” ( Wakefield, et al.).

The more educated a women becomes about the risks of breast cancer, the more they will understand screening results. The first option for those who are at risk or are affected my not be as drastic as a mastectomy, but radiation therapy or lumpectomy. Genetic counseling helps patients learn and cope with factors that they are faced with and can be guided to whatever choice is necessary. Genetic screening for breast cancer is not only a physical stressor, but a psychological one as well.

Screening does have a potential harm, “which are over diagnosis and overtreatment,” (Day). Over diagnosis can occur when screening produces benign tumors or lesions that may never have been detected nor harmful in a person’s lifetime and then operated when they were not even harmful to the patient, using time and money with no real benefit. The biggest harm is that patients undergo unnecessary treatments with many consequent side effects and costs. Two things need to be ascertained in genetic screening.

The first being the extent of the problem or how many lesions that may be detected that would never have progressed. The second thing is the harm that may be caused to an individual who receives such a diagnosis according to Nick E. Day. Detecting over diagnosis is hard to predict though as doctors will treat any lesions that they find and it would be hard to track how many of them would have progressed and become harmful to an individual.

Screening does have a financial barrier. Lower income women may not have as knowledge of breast cancer screening is more likely to get screenings based on their self perception of being at risk for breast cancer. A study performed by Erika Lubektin and associates showed that women in the study of 1,177 patients “that perceived themselves as being was much higher, somewhat higher, same, or somewhat lower than others had higher rates of screening than patients who reported perceived risk as much lower,” (Lubektin, et al.). Women in different racial groups are more likely to get screenings based on doctor recommendations in their areas and based on their culture.

Breast cancer is a major cause of death in women. The disease may be avoidable with proper genetic screenings in advance to determine the proper treatment. With proper education alongside the screenings, women may be able to find out if family members are also carriers or at risk for breast cancer. There are possible harmful effects with screenings though if other non important lesions are found and treated, but women should be screened to be safe.
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