Genetic Testing of Younger Women with Family History of Breast Cancer Essay Example

crucial to refer these women and discuss their options for testing and prophylactic treatment, taking into consideration the potential benefits.

The healthcare provider is responsible for recognizing individuals in their practice who may have an increased genetic risk. To achieve this, they should collect personal and family history information from all patients. The objective is not to calculate a precise quantitative risk, but rather to ascertain if the patient belongs to a higher risk group. This qualitative evaluation should include obtaining a detailed cancer history from multiple generations on both sides of the family.

The risk category is determined by various factors, such as the number and relationships of relatives with breast or other relevant cancers, their ages at diagnosis, and additional factors like ethnic background.

The research suggests that clinicians should offer genetic counseling and DNA testing to breast cancer patients with a family history of breast and ovarian cancer. It is also recommended for patients diagnosed with breast cancer before the age of 45 (Ausems et al, 2005). Additionally, when dealing with individuals who have BRCA mutations and bilateral breast cancer, it is important to consider the variations in clinical factors (Maka et al, 2004).

A family history of breast cancer, particularly when multiple relatives are affected at early ages, is associated with a higher risk of DCIS and LCIS. Statistical risk models suggest that the prevalence rate of BRCA1 and BRCA2 in DCIS is low; however, laboratory testing is needed to confirm these estimates (Carter et al., 2003). There are indications that there may be other unknown genes that significantly contribute to familial breast cancer (Aguilar et al.,

1998). In a coordinated genetic counseling setting, physicians and genetic counselors can assess risks, interpret test results, and provide counseling directly to the patient (Kurth et al., 1995).

Unless there are extraordinary features, it is unlikely to detect a mutation if the family has less than three affected close relatives on the same side of the family. The presence of these special features justifies an exception to the requirement of three affected relatives.

One of the family members has a detectable mutation that shows a higher likelihood of developing breast cancer. The risk is especially increased if patients or close relatives were diagnosed with breast cancer before age 45. It is also significant if there are instances of cancer within the family, as well as individuals on the same side of the family who have had breast cancer at any age. Moreover, having multiple primary or bilateral breast cancers, or a male relative who is a first- or second-degree relative with breast cancer, further elevates the risk. Assessing this risk can be difficult.

Patients who discuss their family history of cancer and mention a distant relative with late-onset breast cancer are reassured that they have a similar risk compared to the general population. It is important to provide these individuals with information about standard surveillance measures based on their age and reassure them that genetic testing is unnecessary due to the associated risks, limitations, and burdens.

Determining whether more comprehensive genetic counseling is necessary and if genetic testing should be considered can be influenced by factors like patient concern and clinical judgment. Healthcare providers aim to use personal and family cancer

history information to identify individuals at higher risk, but it is important to note that increased-risk individuals do not fit into a distinct category; rather, they fall on one end of a continuous distribution. This poses challenges in establishing an exact cut-off or testing threshold. Some patients may have a risk level similar to the increased-risk group, while others may only have slightly higher risk than the general population.

In two situations, additional evaluation and counseling are required. The initial situation is when a woman has two family members on either her mother's or father's side who developed breast cancer in their 50s. The second situation is when a woman has only female relatives and one of them had breast cancer. In these cases, it is essential to perform a thorough risk assessment and explain the pros and cons of testing.

Health care providers should provide comprehensive information to high-risk patients, including options such as DNA-based mutation detection and increased monitoring without genetic testing. It is also crucial to give these patients a more precise risk estimate to help them make informed decisions. When dealing with these situations, it is necessary to consult or refer to a specialist in cancer genetics, clinical genetics, or genetic counseling.

Individuals under 18 years old should not undergo genetic testing because there are no preventive measures for them and breast cancer is rare in this age group. If someone at a higher risk wants to get tested, they should consult with a specialist in cancer genetics. They may need to provide additional information about their personal and family medical history. It is important to gather relevant

medical data, such as the primary site and age of diagnosis, as individuals may not have complete knowledge of their family's cancer history. Based on all the available information, the healthcare professional will determine whether there is an average or increased likelihood of the patient having a gene mutation that makes them more susceptible to breast/cancer.

It is crucial to understand that the patient's conduct may vary based on the test outcome. Nonetheless, relying solely on theoretical judgments for anticipating real behavior is not always reliable. To guarantee that the patient can make an informed choice regarding DNA-based mutation testing, they should be provided with information about its potential advantages and disadvantages. Genetic testing has both pros and cons. Identifying a mutation can have several benefits:

The text discusses the benefits of detecting and not detecting a gene mutation. Identifying a gene mutation can provide several advantages, such as reducing uncertainty and associated anxiety, potential prevention of health issues through enhanced surveillance, chemoprophylaxis regimens and prophylactic surgery, alerting relatives to potential hazards and available services, and the opportunity to participate in clinical trials and associated research. On the other hand, not detecting a gene mutation when an affected relative has been found to have one can offer reassurance and eliminate anxiety. It can also help avoid unnecessary intensive monitoring strategies and prophylactic surgical measures, along with their accompanying risks and costs.

Burdens can be caused by a positive, negative, or uncertain test result, which may or may not be facilitated by third party payers. These tests are expensive. The burdens of detecting a mutation can include:

The text addresses a range

of negative impacts and concerns related to various issues. These concerns encompass feelings of anxiety, depression, and reduced self-esteem. The frustration stems from the uncertainty surrounding the effectiveness of available interventions. Furthermore, these worries are exacerbated by the risks and expenses associated with additional surveillance or preventive measures, which may or may not be covered by insurance policies. Moreover, strained relationships with a partner or relatives, as well as guilt about potentially passing on the condition to children, contribute to the emotional burden. Additionally, there is a significant problem with stigma surrounding the condition. In addition to that, there is potential bias from health, life, or disability insurance companies as well as employers or others. Lastly, individuals carrying BRCA1 and/or BRCA2 mutations face potential but unproven dangers linked to more frequent and earlier mammograms.

Burdens that arise from not detecting a mutation consist of the potential for disregarding routine surveillance because of wrongly believing that there is no risk in the absence of a detected mutation. Additionally, there is survivor guilt, which involves feeling undeserving of negative test results when other family members are positive and suffering from present or potential disease. On the other hand, burdens resulting from a "uncertain significance" test result include the need to evaluate other family members to determine its importance, the requirement to maintain intense surveillance until the significance of the genetic alteration is understood, and experiencing anxiety, frustration, and other negative psychological effects due to uncertainty.

Considering the intricate nature of the pre-test education component, it is improbable that individuals can comprehend the information and decide whether to proceed with testing all in one visit. Therefore,

it is advisable to postpone the testing to a second or subsequent visit. It is important to provide pre-test education and allow time to review the written materials.