Medical Essay on BRCA Mutation Testing

Published: 2021-07-05
1086 words
4 pages
10 min to read
Vanderbilt University
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Course work
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This screening is done to women who have no symptoms and who have never been diagnosed with breast cancer related to BRCA genes. The family history of the woman is unknown. The womans family may have increased risk for harmful BRCA mutations. The screening recommendations involve identifying if the woman is a higher risk of having harmful mutations. The test for BRCA mutations are very sensitive, and genetic counseling is necessary afterward.

Increasing age is a risk factor for this patient. Hence, a film mammography should be done every two years. Mutations in the BRCA genes increases the risk of breast cancer in women. There are no studies that directly addresses the effectiveness of risk assessment and genetic testing in reducing the incidence and mortality of cancer. The womans age of fifty is a risk factor for breast cancer even though the family history is unknown. It is, therefore important that clinical considerations for BRCA testing are considered. These include Genetic counseling on the risk of BRCA mutation, BRCA mutation testing, the timing of screening for harmful mutations, and risk assessment. The clinical considerations for women who are above fifty years include, the benefits and harms of screening, the appropriate time to start screening, the risk factors influencing the time to begin screening, the frequency of screening and when to stop screening. The recommendations for breast cancer screening is biennial screening. This has been graded B. also the recommendations for the screening of BRCA related breast cancer has been given grade B. This means that this service is recommended, but there is reasonable evidence that concludes that the benefits outweigh the harms. There is evidence that with the use of film mammography, the mortality from breast cancer has reduced. A biennial screening is optimal, and it preserves many benefits.

High Blood Pressure Screening Recommendations

Screening for hypertension should be done every two years or every one year depending on the rates of the blood pressure. Other screenings that can be done for this patient include diabetes, screening for hyperlipidemia and also aspirin chemoprevention should be considered.

The clinical considerations include the screening tests used, whether office blood pressure measurement or ambulatory and home blood pressure monitoring, the screening interval and treatment of hypertension.

Screening for hypertension in adults has been given Grade A by the t his means that the screening is strongly recommended. The screening program for hypertension should be provided to eligible patients since there is good evidence that the benefits outweigh the harms and it improves the health outcomes. From studies carried out, with rescreening done at intervals of 6 years, there was a high incidence of hypertension in general. Additionally, repeated measurements improve the accuracy of OBPM use for screening. High blood pressure affects a significant portion of the adult population. It is mostly diagnosed during outpatient office visits. Screening and treatment of high blood pressure cause fewer harms. Randomized controlled trials were used as direct evidence for benefits of screening. There were changes in the outcomes of health after screening for hypertension in comparison to no screening. The number of individuals hospitalized for acute myocardial infarction reduced by a statistically significant number after random screening was done. The results provide supportive evidence for effects of blood pressure screening program which target cardiovascular diseases. There has been reduced incidence of cardiovascular events. The guidelines give the recommendations for the intervals of screening, but they are not evidence-based.

Comparison between the Screening Recommendations for Breast Cancer According To American College of Radiology and American Cancer Society


Irrespective of the age brackets the decision to start the screening is an individual choice.

Both consider the risks of screening and their potential benefits before doing the screening.

Basing on factors such as a family history of breast cancer, or having a child with BRCA 1 or BRCA 2 gene, women who have a risk higher than the average risk should begin their screening mammography as early as 40 years of age. They should also get other screening programmers such as an MRI every year. This will be of greater benefit to these women.


According to the American College of Radiology, for women who are aged between 40 to 49 years and who are at an average risk, the decision to start mammography screening before 50 years of age is an individual choice. They should do screening with mammography every year. In contrast to the American Cancer Society, women who are aged between 45 and 49 years are supposed to get mammograms every year. For ages 70 to 74 years, screening reduces the risk of dying from breast cancer substantially, but the American college of radiology have not recommended while in the American Cancer Society, Women who are between 50 and 54 years should do mammograms every year. Women who are 55 years and above should get mammograms after every two years, but they can also decide on their own to continue with the mammograms every year. For Women aged 75 or older with average risk, the American College of Radiology has not addressed their recommendations, but according to the American Cancer society, as long as the woman in this age is in good health, she should continue with screening to be able to reach their life expectancy

Comparison between the Screening Recommendations for Hypertension According To Joint National Committee and the Department Of Veterans Affairs/ Department Of Defense


Both the Joint National Committee on high blood pressure (JNC 7) and the Department of Veterans Affairs/ Department of Defense recommends that screening is done to all adults who are above 18 years.


Joint National Committee on High Blood Pressure (JNC 7)

For adults, the screening interval for blood pressure should be done once every two years if the blood pressure is less than 120/80 mm Hg. If the blood pressure is between 120 139/80 89 mm Hg, screening should be done every year. To make a diagnosis from the screening measurements, an average of two or more readings of blood pressure taken during the office visits are used.

Department of Veterans Affairs/ Department of Defense

According to their guidelines, there is no particular range of blood pressure levels to base on the screening intervals. In contrast to JNC 7, Screening for elevated blood pressures should be done periodically, preferably annually. Additionally, it should be done during the routinely preventative care or health assessment. When making the diagnosis from screening measurements, two readings taken at two separate visits are used to base the diagnosis. If the diagnosis is still uncertain, blood pressure from home monitoring (2 to 3 times in a day) or 24-hour ambulatory monitoring is used to confirm the diagnosis.



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