Foundations of Clinical Genetics and Genomic Technologies

Catalog description

This course introduces the key concepts and skills required for a genetic counselor in both the genetics clinic and the clinical genetics laboratory. In this course, students will understand the importance of collaborative efforts by clinical teams in the clinic and laboratory that lead to identification of the correct genetic diagnosis for a patient. Students will learn the principles of pedigree review, particularly how to apply Mendelian genetics, as well as the approach to clinical evaluation of a patient that leads to proper genetic test selection. Case-based learning will help students understand the complexities of genetic diagnoses and the importance of obtaining an accurate medical, surgical, prenatal, developmental, family, and social history, as well as how to write a standard chart note. They will also learn how genetic and molecular principles contribute to the etiology, clinical features, and expression of genetic conditions. They will appreciate how the natural history and variable expressivity of select genetic diagnoses influence differential diagnoses, interpretation of dysmorphology, choices of genetic testing, and test report interpretation. Common genetic testing methodologies and associated limitations will be introduced, particularly the concepts and tools used to analyze and interpret data from genomic level next-generation sequencing (NGS). Working in groups, students will analyze a simulated clinical NGS case, which will allow them to experience the process of clinical correlation, variant interpretation, and results reporting and provide hands-on opportunities to utilize relevant resources to systemically review and classify variants. Ethical principles that guide clinical care and genetic testing will be highlighted and incorporated throughout the course.