PATHOPHYSIOLOGY

Instructions:
For the assignment, you will be accessing a Case Study from the Global Genetics and Genomics Community (G3C)  (Links to an external site.)website.

Each of the Case Studies has been created to emphasize key challenges that healthcare providers may face in clinical practice and, if applicable for a specific discipline, addresses one or more of the established genetic/genomic competencies.

To begin using G3C, click on Getting Started on the front page of G3C, to select a case, enter the clinic and begin by reviewing the case materials located in the patient’s record. When ready, you will progress to the patient encounter and begin by selecting a question to ask the patient. Additional student activities associated with specific questions are located below the patient video. Supplementary patient materials, including those that the nurse gathers during the encounter, are located by icons in the box to the right and can be viewed at any time during the case.

Case Study Discussion # 1

The Scenario: Lucas

Lucas is a healthy 20-year old college football player of Spanish and German ancestry who is transferring from a local junior college in the U.S. to a nearby Division III University, where he will be entering his junior year. He presents to his primary care physician with questions about the information he received from the university regarding the National Collegiate Athletic Association (NCAA) mandate that all athletes must have sickle cell trait (SCT) testing before participating in any athletics or sign a release that absolves the University from any liability if the athlete becomes ill or dies while engaged in athletic activities. Lucas hopes to play football professionally in the future and wonders if the SCT test could restrict his ability to do so or have other negative consequences for himself or fellow athletes if they test positive for the trait. However, he also thinks that there are benefits to having the test such as identifying athletes who more susceptible to becoming sick or dying from physical exertion. Lucas has discussed this testing with his parents, who also have questions about the test and testing implications.

Case Study Discussion Questions:
After you interview Lucas on the Global Genetics and Genomics Community (G3C) (Links to an external site.) website,  answer the questions below and submit them to this assignment page.
The score that you receive on the G3C does not impact your course grade for this discussion.
Describe sickle cell trait (SCT)
Discuss the health implications associated with intense physical activity, dehydration, heat exposure, and high altitude in one with sickle cell trait.
State possible benefits and risks of sickle cell trait testing. Identify ethical, legal, and psychosocial implications (ELSI) associated with mandated sickle cell trait testing.
Explain the inheritance of SCT and SC disease (SCD). You may draw a Punnett square as a visual illustration representing Lucas and a future spouse that is a carrier of the sickle cell trait to determine the chances of their first child to be a carrier of the sickle cell trait or have the disease.

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