Genetic Counseling

Genetic Counseling

Genetic Counseling

Genetic Counseling

With the increase in knowledge around genetic issues, it is important that all healthcare providers are prepared to have thorough genetic-based discussions now with their patients. In this assignment, you will synthesize your knowledge into a client case with a real or potential genetic health-related illness.
• Use the Surgeon General’s Family History Tool at http://www.hhs.gov/familyhistory/portrait/index.html to complete this assignment.

Directions:

Write a 1,000 word paper addressing a client case that might benefit from the process of genetic counseling.

-Describe the reason for the genetic counseling based on the findings from your completion of the history tool.

-Discuss the possible reactions the patient may have to your counseling and how to avoid negative reactions.

Imagine this assignment as if you are giving this counseling to a patient. Discuss the following:

  1. Health.
  2. Prevention
  3. Screening
  4. Diagnostics
  5. Prognostics
  6. Selection of treatment
  7. Monitoring of treatment effectiveness

Genetic Counseling

Genetic Counseling
Introduction
Diabetes mellitus is considered a lifetime condition which inhibits the body’s capability to regulate metabolic glucose levels. Basically, it is divided into two categories that are; diabetes mellitus type 1 and type 2. Symptoms of type 1 occur after the destruction and damage of cells found within the pancreas leading to a deficit in the production of insulin. In diabetes mellitus type 2, insulin is produced, but it is either not enough or not effective at all (Hivert, Vassy, & Meigs, 2014). As an integral pillar of managing patients suffering from diabetes mellitus, genetic counseling is an aspect that should not be overlooked.
Reasons for Genetic Counseling
The patient is a 37-year-old African American male. The patient’s father passed away three years ago when he overdosed anti-diabetic medication. The patient’s mother was diagnosed with diabetes mellitus three years ago and has developed a diabetic foot complication. The client weighs 120.0 kilograms and his height is 1.4 meters. Diabetes mellitus is a disorder that has been associated with familial inheritance. The genetic factors responsible for causing diabetes mellitus are believed to be located from HLA regions within chromosome 6p21 (Hivert, Vassy, & Meigs, 2014). The protein sequences are inheritable factors. According to the family’s history, the patient is at risk of developing diabetes mellitus. A significant reason for genetic counseling is to create awareness. Through genetic counseling, the patient is expected to appreciate the fact that the condition can run across generations (Kaveeshwar & Cornwall, 2014).

Possible Reactions from the Patient
During the process of counseling, a patient’s reaction is either positive or negative. Positive feedback from the patient acts as a trajectory method to determine the cooperation of the client. The cooperation from the patient is determined by the patient’s mood and response (Anstee, Targher, & Day, 2013). In order to avoid negative reactions, a health worker is expected to first assess the patient’s mental well-being. For example, a depressed patient is most likely to respond negatively during genetic counseling (Anstee et al., 2013). The genetic counselor is expected to approach the client in a professional manner to avoid unnecessary predicament. Establishing rapport allays anxiety. In addition, the patient should be given time to present any ideas that might be necessary for the discussion. Appreciating any effort made by the patient to ask questions is also critical in managing negative feedback from the client.
Health
The ability of an individual to manage and adapt to mental, physical, psychological and spiritual well-being constitutes the health aspect of the individual (Anstee et al., 2013). A chronic illness like diabetes mellitus negatively affects the psychological status of any patient. Therefore, while providing counseling, mental, physical, psychological and spiritual well-being of the patient should be continuously assessed.
Prevention
The prevention of the occurrence and diabetes mellitus and the associated complications of diabetes will be undertaken in three stages including; primary, secondary and tertiary preventive measures. During primary prevention, the patient is educated on self-management and administration of insulin (American Diabetes Association, 2014). Secondary prevention is crucial for the patient diagnosed with diabetes mellitus. Insulin administration and a change of lifestyle are two key pillars in improving the quality of life for diabetic patients. Dietary modification and engaging in physical activity for a specific period of time a day are crucial for prevention of complications arising from diabetes mellitus.
Screening
The process of screening involves coming up with a strategy to identify a condition which might have not manifested with signs and symptoms. The patient will be screened based on the presenting symptoms. The patient will be assessed on the level of blood glucose, the urinary functioning, the amount of water and food taken. The objective of the assessment is to identify the symptoms such as increased thirst, hunger, and the rate of urination. The level of glycosylated hemoglobin is also part of the screening process in diabetes mellitus case. In the case scenario encountered, screening other family members is significant (American Diabetes Association, 2014). The unrecognized clinical manifestations among the siblings are identified through screening. In order to prepare in advance on dealing with the complications of diabetes mellitus, the process of screening is required.
Diagnostics
Diagnosis is the process of coming up with the exact condition that the patient presents with. A patient is diagnosed with diabetes mellitus if the random blood glucose is 11.0 mili-moles per liter in cases with hyperglycemia, or oral glucose tolerance test of 11.0 mili-moles per liter or a fasting blood glucose level of 7.0 mill moles per liter. The management approaches for diabetes include self-insulin administration, physical activities, nutritional aspects and a general change in lifestyle (American Diabetes Association, 2014).
Prognostics
Aggressive management of the symptoms of diabetes mellitus includes prevention of complication like diabetes ketoacidosis. Control of the blood sugar results into control of micro-vascular complications of diabetes mellitus. Further, research studies have shown that the control of the level of glycosylated hemoglobin is associated with a reduction in the number of cases of mortality among diabetes mellitus patients. In order to prevent uncertainties, the patient needs to be advised to regularly administer insulin and monitor the glucose levels (Scirica, Bhatt, Braunwald, Steg, Davidson, Hirshberg, & Cavender, 2013).
The Selection of Treatment
Selecting the method of treatment will depend on the blood sugar levels of the patient. Other than insulin, other diabetic drugs like glibenclamide and metformin are prescribed based on the severity of presenting symptoms (American Diabetes Association, 2014). Administration of the drugs is preferred only in cases where the recommended lifestyle change fails to correct the blood sugar levels and associated symptoms. Furthermore, the dosage of drugs administered depends on the level of sugars present in circulation.
Monitoring of Treatment Effectiveness
Monitoring involves making keen and observant follow up on the patient’s adherence to lifestyle modification, medication, participation in physical exercises and nutritional modification. The client will be educated and instructed to measure the glucose level by use of glucometer on a daily basis. The reduction of sugars in the blood will imply that the client positively responds to drugs, and other management approaches. The medication dosage will be adjusted according to the level of glucose levels (American Diabetes Association, 2014). For example, an increase in the blood glucose level above 7.9 mili-moles per liter requires the use of high potency anti-diabetic medications.
In conclusion, diabetes mellitus is a lifelong condition which needs proper and well-structured management. A collaborative approach among the health workers, the patient and family members is necessary. As part of management on counseling, effective familial history is necessary. The patient’s reaction expected during counseling is either of positive or negative feedback. The condition requires the combination of genetically oriented measures. The level of blood sugar in diabetes mellitus determines the screening, diagnosis, prognosis, treatment selection and measurement of treatment effectiveness.

Reference
American Diabetes Association. (2014). Diagnosis and classification of diabetes mellitus. Diabetes care, 37(Supplement 1), S81-S90.
Anstee, Q. M., Targher, G., & Day, C. P. (2013). Progression of NAFLD to diabetes mellitus, cardiovascular disease or cirrhosis. Nature Reviews Gastroenterology & Hepatology, 10(6), 330.
Hivert, M. F., Vassy, J. L., & Meigs, J. B. (2014). Susceptibility to type 2 diabetes mellitus—from genes to prevention. Nature Reviews Endocrinology, 10(4), 198.
Kaveeshwar, S. A., & Cornwall, J. (2014). The current state of diabetes mellitus in India. The Australasian medical journal, 7(1), 45.
Scirica, B. M., Bhatt, D. L., Braunwald, E., Steg, P. G., Davidson, J., Hirshberg, B., & Cavender, M. A. (2013). Saxagliptin and cardiovascular outcomes in patients with type 2 diabetes mellitus. New England Journal of Medicine, 369(14), 1317-1326.

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