Genetic counselor/Down Syndrome

For this Assignment, you will act as a genetic counselor. Genetic counselors work in different settings and provide patients with information that can help them to evaluate and understand an individual or family’s risk for inheriting a medical condition. Using the knowledge you have gained in this course, you will be able to help your hypothetical patients better understand the terminology and concepts regarding genetics and their condition.
Step One: Choose a setting
• Prenatal screening – A couple where one or both are of an advanced age have concerns about Down Syndrome.
• Pediatric setting – A child is showing developmental delays and has abnormal facial features. The doctors suspect a genetic condition.
• Cancer setting – A patient has knowledge of a genetic mutation in a cancer susceptibility gene in their family.
Step Two: Create a hypothetical conversation between you as the genetic counselor, and a patient/couple/family from one of the settings above. You will need to incorporate the answers to the following topics and questions in your script:
• Collect the hypothetical personal or family history of the known or suspected condition
• Patients are referred to genetics counselors for a wide variety of reasons. Discuss the reason your patient has decided to pursue counseling.
• Genetic testing can be utilized for the diagnosis of an underlying genetic condition, carrier screening for reproductive risk assessment, cancer risk assessment, and predictive genetic testing for the future development of disease. Explain to the patient what type of testing they should have and why. Include the pros and cons to the knowledge obtained by the testing.
• Discuss what risk there could be to their offspring or if reproduction is a possibility.
• Provide an example of how genetic counselors may need to provide emotional support for a difficult decision that has been presented to the patient. Often times dealing with the pain of uncertainty or the burden of the knowledge is overwhelming to the patient. Could the counselor refer the patient to a specialist or a support group? How would the patient benefit?
Submission Guidelines
• Approximately 1000 words (2-3 pages not including title or reference pages).
• Typed Double- spaced, 12-point Times New Roman font.
• You may choose to write your paper in the format of a script (like a movie or television show).
• Use simple terminology and avoid jargon.
• Use real-life analogies to explain the issues.
• Provide references in APA format as appropriate.