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:
- Health.
- Prevention
- Screening
- Diagnostics
- Prognostics
- Selection of treatment
- Monitoring of treatment effectiveness
GENETIC COUNSELING
Introduction
Human health is a matter of utmost sensitivity and is easily influenced by some distinct
factors. These range from lifestyle to the genetic makeup of an individual. However, a majority
of individuals do not know the integral role that their life choices and their family health history
have on their likelihood of suffering from some diseases. Most individuals disregard entirely the
effect that their lifestyles have on their health, and this is one of the leading causes of the
prevalence of genetic-based and lifestyle-based complications such as diabetes, stroke, mental
disorders just to name a few. Another reason for the prevalence of the diseases is ignorance on
the part of the patients. Most people do not take time to investigate their risk factors for some
conditions until it is very late for prevention and even sometimes making it even harder or
GENETIC COUNSELING 2
virtually impossible to intervene. Diabetes is one of the most prevalent genetic-based diseases
lasting a lifetime with no possibility of a cure. The disease affects how an individual handles
glucose. Of all the reported cases of diabetes, type 2 is the most dominant. Current figures place
the number of Americans who have type 2 diabetes at 27 million (Alejandro, Gregg, Blandino-
Rosano, Cras-Méneur, & Bernal-Mizrachi, 2015, p. 30). The purpose of this paper is to review
a patient’s risk factor for the disease and the possible interventions available for them.
- Health.
Type 2 diabetes occurs because the body cells of individuals suffering from the ailment
not using insulin that their pancreas makes (Kahn, Cooper & Del Prato, 2014, p. 1070). Since
insulin is necessary for the breaking down of glucose, this action leads to the condition referred
to as type 2 diabetes. Medical practitioners refer to the phenomenon of the cells refusing to use
the insulin that their pancreas manufactures as insulin resistance. The cause of type2 diabetes
often involves a combination of two of the factors that we shall discuss next. These include but
are not limited to the genetics, extra weight, excessive glucose in the liver, bad communication
between cells and broken beta cells. Primarily, genetics and lifestyle choices play an integral part
in determining an individual’s risk factor. - Prevention
An individual’s risk factor for type 2 diabetes is hinges on some factors as earlier
mentioned. However, some of these factors are controllable while others are not. Some activities
and life choices heighten an individual’s risk to type 2 diabetes even though they won’t
necessarily give one the disease. Of these things, age, family, and ethnicity are the risk factors
that one cannot necessarily control. For example, the risk of one getting type 2 diabetes is higher
GENETIC COUNSELING 3
for individuals aged 45 years and above (Ley, Hamdy, Mohan & Hu, 2014, p.2002). Secondly, if
there is a family history of the disease, then an individual’s risk of getting it is also heightened as
the disease is a genetic-based medical condition. Finally, an individual’s ethnic background plays
a huge role in determining an individual’s likelihood to suffer from the complication. African-
Americans, Native American, Asian Americans, Alaska Natives, Latino and Pacific Islander-
Americans are more likely to suffer from type 2 diabetes as compared to individuals from other
ethnic groups (Emerging Risk Factors Collaboration, 2015).
- Screening
Other risk factors for type2 diabetes are a result of lifestyle choices by individuals. These
include getting minimal or no exercise at all, stress, smoking, and obtaining too much or not
enough sleep. These risk factors can be controlled, and that can help in the prevention of the
disease. Loss of weight through exercise and maintaining an average body mass index can be
useful in the prevention of type 2 diabetes. The loss of between 7-10% of an individual’s body
mass index was found to lower their risk of suffering from the disease by half. Additionally,
since being overweight is a product of poor eating habits individuals are advised to eat healthily
they are to lower their risk of suffering from the disease. Individuals are encouraged to avoid
saturated fats, trans, highly processed carbs and also limit their intake of red and processed meats
(De Souza, Mente, Maroleanu, Cozma, Kishibe & Anand, 2015). Exercise helps to boost health,
burns down excess calories and also use up insulin which means that thirty minutes of brisk
walking will result in a reduced risk of suffering from the ailment by half. Individuals are also
advised to minimize their smoking if they are to reduce the chances of them suffering from the
disease.
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- Diagnostics
To establish the likelihood of an individual suffering from type 2 diabetes a doctor can
conduct a blood test. It entails the administration of the test on two different days in a bid to
ensure the consistency of the results except if an individual’s blood glucose is very high and
there is an abundance of symptoms. Some of the tests that can be administered include an A1C
which is an average of an individual’s blood glucose over a period of two to three months. One
can also be supplied with an oral glucose tolerance test (OGTT) or fasting plasma glucose.
Despite the fact that it is imperative that one is subjected to a test to precisely determine
if they have type 2 diabetes, some of the symptoms can directly point to the likelihood of one
having the disease. In the case that one sees one of these symptoms, he/she is advised to consult
a physician. These symptoms include but are not limited to excessive and constant thirst, a lot of
peeing, blurry vision, feeling worn out, recurring yeast infections, irritability and the tingling or
numbness of hands and feet. - Prognostics
Continued high blood sugar is harmful and is bound to lead to other complications and
problems with an individual’s eyes, kidney, liver, heart and blood vessels, pregnancy and the
healing of wounds. The condition can also lead to nerve complications which can lead to
digestion problems and problems with sexual response. Proper management of the treatment is
essential if one is to avoid these complications. - Selection of treatment
GENETIC COUNSELING 5
To properly manage the disease one is expected to regularly check their blood glucose
levels, eat right and avoid skipping meals, regularly visit a physician especially at the first sign of
trouble. Most importantly individuals suffering from type 2diabetes are admonished to take their
medication and insulin promptly to reduce the risk of any escalation of the condition.
There are several treatment options available for individuals who have type 2 diabetes.
The options range from dieting, exercise, and medication. These approaches work together in
most cases to ideally bring down an individual’s blood glucose with the first two serving as the
most preferred options in mild situations. However, in cases where the condition is more severe
then medication is recommended. The doctor will aid in determining which of the approaches is
most suitable for the patient.
- Monitoring of treatment effectiveness
Despite most of these treatments going hand in hand, it is essential to continually monitor
the effectiveness of the treatments being used to ensure that one’s condition does not deteriorate.
Frequently checking one’s blood sugar and self-examination of how one feels are sufficient
indicators of the effectiveness of the treatment in place.
Conclusion
As per the patient’s medical and family history, there have been cases of type 2 diabetes
reported in both the individual’s paternal and maternal grandparents and one elderly maternal
aunt. It is for this reason that the counseling is necessary. It is aimed at granting the patient a
chance to lower their risk factor considering that currently, it stands at one which is extremely
low. The information on the prevention of the condition seeks to discourage the occurrence of
the disease. The patient’s reaction to the discussion is aimed to motivate healthy living in a bid to
GENETIC COUNSELING 6
deter the possibility of the condition occurring through proper nutrition, exercise, and healthy
living.
References
Alejandro, E. U., Gregg, B., Blandino-Rosano, M., Cras-Méneur, C., & Bernal-Mizrachi, E.
(2015). Natural history of β-cell adaptation and failure in type 2 diabetes. Molecular
aspects of medicine, 42, 19-41.
De Souza, R. J., Mente, A., Maroleanu, A., Cozma, A. I., Ha, V., Kishibe, T., … & Anand, S. S.
(2015). Intake of saturated and trans unsaturated fatty acids and risk of all cause
mortality, cardiovascular disease, and type 2 diabetes: systematic review and meta-
analysis of observational studies. Bmj, 351, h3978.
Emerging Risk Factors Collaboration. (2015). Separate and combined associations of body-mass
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index and abdominal adiposity with cardiovascular cardiovascular outcomes in patients
with type 2 diabetes: a retrospective observational study. Cardiovasc Diabetol, 14, 10.
Kahn, S. E., Cooper, M. E., & Del Prato, S. (2014). Pathophysiology and treatment of type 2
diabetes: perspectives on the past, present, and future. The Lancet, 383(9922), 1068-
1083.
Ley, S. H., Hamdy, O., Mohan, V., & Hu, F. B. (2014). Prevention and management of type 2
diabetes: dietary components and nutritional strategies. The Lancet, 383(9933), 1999-
2007.