Overview
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Requisites
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Learning activities
Learning outcomes
Knowledge: 1. Knowledge: The student will demonstrate an understanding of the principles and applications involved in identifying a range of genetic states and disorders, utilising a range of different diagnostic techniques.
Communication:report constitutional, somatic, healthy and pathological genetic variants using standardised nomenclature. The student will need to demonstrate an ability to generate, understand, compile and report genetic pathology information.
Problem solving skills: The student will demonstrate an ability to integrate multiple sources of genetic investigations with patient histories to formulate diagnoses and treatment strategies.
Social responsibility: Students will learn fundamental ethical considerations required when dealing with highly sensitive patient genetic information.
Assessments
Additional information
The field of molecular pathology is currently advancing exponentially with the advent of new technologies such as Next Generation Sequencing providing a greater understanding of the multitude of molecular drivers causative of heritable and acquired human diseases. This unit will introduce the student to the current platforms and tools used in molecular diagnostic laboratories to identify genetic variants with a focus on interpretation and reporting. Topics will include: prenatal genetic testing, genetic disease diagnosis and carrier testing, pharmacogenetic testing (drug response prediction), cancer diagnosis and prognosis, and screening for unknown genetic mutations.