Premium
An interactive, case study computer module for teaching medical genetics using genomic sequence analysis tools.
Author(s) -
Munzenmaier Diane H.,
Worthey Elizabeth A.,
Jacob Howard J.
Publication year - 2009
Publication title -
the faseb journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.709
H-Index - 277
eISSN - 1530-6860
pISSN - 0892-6638
DOI - 10.1096/fasebj.23.1_supplement.633.3
Subject(s) - medical genetics , presentation (obstetrics) , medical diagnosis , genetic counseling , test (biology) , genetic testing , whole genome sequencing , sequence (biology) , human genetics , computational biology , computer science , medicine , genetics , genome , biology , pathology , gene , paleontology , radiology
Aim The sequencing of the human genome has issued the promise of individualized medicine for the near future. Technology has accelerated to a point where it is clear that genomic sequence will be a basic component of medical care before today's medical students complete their residencies. This interactive computer laboratory has been designed to allow the student to be involved in practical and ethical decision making based on symptom presentation, family history, and genetic test results and to use genomic sequence tools to aid them in their diagnoses. Methods Cases are discussed in small groups as students use genetic test results and genome sequence as well as online tools and resources to diagnose, determine carrier status, and make decisions regarding treatment and testing of family members. Prenatal diagnosis, preimplantation genetic diagnosis, prophylactic screening, and ethics are also addressed. Genetic disorders represented in these case studies cover a wide range of types of genetic variation and presentation and increase in complexity through the module. Conclusion This teaching module provides a link between genetics lectures and the clinic. Taught during the medical physiology course in the second semester of the first year, it attempts to integrate recently acquired knowledge in anatomy, biochemistry, neuroscience, physiology, and genetics with clinical genetics testing and diagnosis.