Genetic Counseling Paper

Genetic Counseling Paper

The field of genetic counseling has grown in prominence in recent decades. Nurses and other healthcare professionals play an essential role in giving genetic screening to their clients. They need to be well-versed in genetic counseling to help their patients make educated choices. This paper uses a case study on a family who sought medical advice about the possibility of sickle cell disorder in their bloodline.

They claim that both their families have a background of sickle cell disorder. Because of this, they were apprehensive about the potential impact of the disorder on their children. As a result, we delve deeper into this case study from the perspectives of health, screening, diagnosis, prognosis, therapy choice, and outcome evaluation.


Individuals should be made aware of the benefits of genetic counseling to make an educated choice. Genetic counseling improves individuals’ knowledge and comprehension of various genetic disorders that could affect them. As a result of this understanding, people will be more likely to take advantage of the health benefits offered by genetic therapies. They employ the information in decision-making and in removing cultural and other obstacles that prevent them from receiving genetic services. The psychological well-being of people at risk for hereditary diseases is also improved with genetic counseling.

Suppose the individuals in the given scenario are determined to be at risk of passing the disorder on to their children, for instance. In that case, they will receive the appropriate guidance and other supportive services. Reducing stressful situations caused by the uncertainty of the results is crucial to improving these individuals’ mental health, which is why support is vital (Greenberg et al., 2020).

Care outcomes can be improved with genetic counseling as well. Evidence for this comes from the rise in the use of preventative medicine and the earlier use of treatment for people with genetic abnormalities. Both the patients and their loved ones benefit from it in terms of improved health.


Genetic counseling can also play a preventative role when employed in both clinical and community contexts to address concerns impacting clients. Genetic counseling is a form of case management that can help mitigate or even avoid unanticipated health problems. This is evident from the high rates of worry, poor emotional regulation, and feelings of helplessness among individuals affected by or at risk for this condition. The individuals’ general health suffers because of these consequences.

Furthermore, genetic counseling is crucial in avoiding these consequences because it educates people about their options and equips them to make decisions based on their assessment of risk and their own and their family’s values and priorities (Cohen et al., 2019).

Specifically for this scenario, genetic counseling can help the family prepare for the possibility that one of their children will be born with sickle cell disorder and learn how to take care of their emotional health and psychological well-being in the face of this information. It also gives them some measure of control over the condition’s potentially devastating effects on their offspring. As a result, genetic counseling serves as a form of illness prevention by reducing the likelihood of unfavorable consequences, such as psychological distress and family breakdown.


Individuals affected by and at risk of a genetic problem can benefit significantly from genetic screening, which explains the various tests needed to identify the condition. Patients are made aware of the many diagnostic options, as well as their advantages, disadvantages, and cost-effectiveness. They will be more mentally and emotionally prepared to undergo examinations and therapy if they are informed about what to expect.

The family is given information on the diagnostics that are crucial for diagnosing whether a child has sickle cell disorder. Individuals need to be screened to see if they have the condition, too. Complete blood count and hemoglobin electrophoresis are among the tests that will be performed (Cohen et al., 2019).


Patients are educated about the potential benefits of genetic screening for prognosis as part of genetic counseling. A major controversy surrounds the predictive value of genetic tests, despite their widespread use. Tests’ predictive validity has been questioned for several reasons. One major criticism leveled against genetic testing by academics is that it is typically employed for diseases for which there is no or minimal opportunity to mitigate risk. Due to this discrepancy between the availability of effective treatments and the lack of testing, it follows that individuals do not feel compelled to undergo screening for these disorders.

The second issue with genetic testing’s predictive value is that it primarily seeks to ascertain whether an individual is predisposed to developing a condition. Individuals aren’t given any assurance that they’ll develop the condition. As a result of these problems, nurses and other medical professionals need to be familiar with the predictive value of different genetic testing so that they may provide adequate counseling to their patients (Greenberg et al., 2020).

Because of the unpredictability of the sickle cell trait, the scenario parents need to be made aware of this fact. Life expectancy varies from person to person based on the severity of their illnesses, with the vast majority of those affected dying before reaching adulthood. As a result, they need to be taught that symptomatic treatment is the best way to combat the illness.

Selection Of Treatment

The second part of genetic counseling is educating the individual and their family on the best therapeutic approaches for their genetic disease. However, the specific sort of genetic issue a person is dealing with will determine the course of therapy. For instance, nutritional supplements or adjustments for the missing enzyme are used to treat genetic diseases affecting metabolism.

It’s important for loved ones to know that the indicators of sickle cell anemia are the primary factor in determining the course of treatment. Each individual receives care that is specifically geared toward their needs (Cohen et al., 2019). To alleviate pain in an individual with a normal blood count, for instance, doctors could prescribe analgesics while treating those with low hemoglobin levels by transfusing blood. As a result, loved ones need to understand how to treat the disorder’s symptoms.

Monitoring Of Treatment Effectiveness

The individual and their loved ones should receive information from genetic counselors on how their progress during therapy will be tracked and measured. In genetic illnesses, monitoring therapy efficacy frequently involves observing the patient for changes in symptom severity and frequency. A person’s physiological indicators of health and happiness are also considered. Genetic tests are useful in establishing the efficacy of the chosen treatment strategy.

An individual’s DNA fingerprint can be used in conjunction with a pharmacological response profile to determine how they will react to a new treatment (Boothe et al., 2021). Individuals in the given scenario could benefit from increased understanding and well-informed decision-making if genetic counseling included a discussion of these aspects of therapy monitoring.

Possible Reactions to Counselling and How to Avoid Negative Reactions

A wide range of responses to genetic counseling exist. The variation can be explained by the fact that people’s expectations and knowledge of genetic illnesses vary. Individuals who are not well-versed in the subject of genetic abnormalities are more prone to react negatively to genetic counseling. That is why it’s crucial to implement measures that lessen the likelihood of a backlash from those audiences.

Methods include getting to know clients on a personal level, earning their confidence, fostering an atmosphere of open communication, probing them with questions, and delving into topics from patients’ immediate experiences to those that are completely new to them. In addition, it is important to reassure patients and give them correct information (Pierle et al., 2019). When necessary, complicated situations should be referred to specialized care facilities.


As discussed in this paper, all medical professionals, such as nurses, need to be well-versed in genetic counseling. This information is crucial for empowering individuals to make educated healthcare choices. Acceptance among persons at risk for genetic illnesses is another area where this is crucial. Therefore, for effective genetic counseling in practice, healthcare workers should develop approaches that limit negative responses from clients.


Boothe, E., Greenberg, S., Delaney, C. L., & Cohen, S. A. (2021). Genetic counseling service delivery models: A study of genetic counselors’ interests, needs, and barriers to implementation. Journal of Genetic Counseling30(1), 283-292.

Cohen, S. A., Bradbury, A., Henderson, V., Hoskins, K., Bednar, E., & Arun, B. K. (2019). Genetic counseling and testing in a community setting: Quality, access, and efficiency. American Society of Clinical Oncology Educational Book39, e34-e44.

Greenberg, S. E., Boothe, E., Delaney, C. L., Noss, R., & Cohen, S. A. (2020). Genetic counseling service delivery models in the United States: Assessment of changes in use from 2010 to 2017. Journal Of Genetic Counseling29(6), 1126-1141.

Pierle, J. M., & Mahon, S. M. (2019). Genetic Service Delivery Models: Exploring approaches to care for families with hereditary cancer risk. Clinical Journal of Oncology Nursing23(1).

Assessment Description

With the increase in knowledge around genetic issues, it is important that all health care 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.

General Guidelines:

Use the following information to ensure successful completion of the assignment:

  • This assignment uses a rubric. Please review the rubric prior to beginning the assignment to become familiar with the expectations for successful completion.
  • Doctoral learners are required to use APA style for their writing assignments. The APA Style Guide is located in the Student Success Center.
  • This assignment requires that at least two additional scholarly research sources related to this topic, and at least one in-text citation from each source be included.
  • You are required to submit this assignment to LopesWrite.


Write a paper (1,000-1,250 words) 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 family health portrait. 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 and be sure to discuss the following:

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