Sickle Cell Trait and Sickle Cell Disease: A Case Study

Case-based learning activity on natural history, genetic testing, genetic screening and implications of testing related to sickle cell disease.


Type Other
CME Available No
Topic
Cost Free
Note

2009; case study; must register with MedEd Portal.

Date of Resource 2009

Genomic Competencies

Experts from the disciplines listed below have tagged this resource as fulfulling genomic competencies.

Genetic Counselor

  • Genetics Expertise and Analysis
    • 1:   Demonstrate and utilize a depth and breadth of understanding and knowledge of genetics and genomics core concepts and principles.
      • 1a:   Demonstrate knowledge of principles of human, medical, and public health genetics and genomics and their related sciences.
      • 1b:   Apply knowledge of genetic principles and understand how they contribute to etiology, clinical features and disease expression, natural history, differential diagnoses, genetic testing and test report interpretation, pathophysiology, recurrence risk, management and prevention, and population screening.
    • 3:   Construct relevant, targeted and comprehensive personal and family histories and pedigrees.
      • 3a:   Demonstrate proficiency in the use of pedigree symbols, standard notation, and nomenclature.
    • 4:   Identify, assess, facilitate, and integrate genetic testing options in genetic counseling practice.
      • 4a:   Investigate the availability, analytic validity, clinical validity, and clinical utility of screening, diagnostic and predictive genetic/genomic tests.
      • 4d:   Coordinate and facilitate the ordering of appropriate genetic testing for the client.
      • 4e:   Interpret the clinical implications of genetic test reports.
    • 5:   Assess individuals' and their relatives' probability of conditions with a genetic component or carrier status based on their pedigree, test result(s), and other pertinent information.
      • 5a:   Assess probability of conditions with a genetic component or carrier status using relevant knowledge and data based on pedigree analysis, inheritance patterns, genetic epidemiology, quantitative genetics principles, and mathematical calculations.
      • 5b:   Incorporate the results of screening, diagnostic and predictive genetic/genomic tests to provide accurate risk assessment for clients.
      • 5c:   Evaluate familial implications of genetic/genomic test results.
      • 5d:   Identify and integrate relevant information about environmental and lifestyle factors into the risk assessment.
    • 6:   Demonstrate the skills necessary to successfully manage a genetic counseling case.
      • 6a:   Develop and execute a case management plan that includes case preparation and follow-up.
      • 6b:   Assess and modify the case management plan as needed to incorporate changes in management and surveillance recommendations.