Assess the relationship between genetics, genomics, and epigenetics across the lifespan.
Assess the relationship between genetics, genomics, and epigenetics across the lifespan.
4 pages
Competency:
Assess the relationship between genetics, genomics, and epigenetics across the lifespan.
Student Success Criteria
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Scenario:
You are the nursing member of a multidisciplinary team working in a genetic clinic at an academic medical center. A heterosexual couple who immigrated to the United States from Tanzania 10 years ago presents to the clinic for pre-conception genetic counseling. The relevant issue is that both have been told they carry the sickle cell trait. They are seeking advice as to the chances of passing either sickle cell trait or sickle cell disease to future children. Some members of their extended families have had sickle cell disease, so they are well aware of the lifelong care challenges the disease entails. Also, one family member with a sickle cell trait who is an endurance athlete developed Rhabdomyolysis despite not having sickle cell disease. They are confused regarding the differences between sickle cell trait and sickle cell disease and seek clarification to make future life decisions about childbearing. They may seek adoption or other childbearing options if they feel the genetic risk too high.
Instructions:
Given the information contained in the case study above, please answer the following questions in a narrative summary in Word document format to be given to the family:
- Explain the inheritance patterns for sickle cell trait as well as sickle cell disease.
- Describe the percentage of occurrence of either sickle cell trait or sickle cell disease in the future offspring for this particular couple.
- Discuss which molecule is affected by the sickle mutation and what world populations have the highest frequency of occurrence?
- Contrast the common health complications for individuals with sickle cell disease versus those with sickle cell trait.
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