Genomics Foundations Program
Foundational Science
This module introduces essential concepts for understanding genomics at a cellular level. It reviews the structure and function of DNA, chromosomes and genes, and the processes involved in protein synthesis.
Genetic Variation
This module outlines the classification of genetic variation that can occur in humans. It reviews the types and effects of different forms of genetic variation.
Pedigree Drawing and Inheritance Patterns
This module outlines the method of creating a pedigree and its role in the clinical care of patients with, or at-risk-of, a genetic condition. It reviews the principles around the different inheritance patterns to ensure accurate assessment of the risk and counselling of patients and families.
Clinical Genetics Services and Mainstreaming of Genomics
This module gives an overview of clinical genetic services, the health practitioners involved, and the role of genetic counselling. It details the process of referring patients to the clinical genetic service in Queensland, and the patient pathway through a clinical service. It describes the methods of mainstreaming of genomics.
Requesting Genomic Testing
This module gives an overview on requesting diagnostic genomic testing. It details the considerations, steps, and requirements when requesting genomic testing.
Interpreting Genomic Testing Results
This module gives an overview on interpreting clinical diagnostic genomic testing results. It reviews the content of a genomic test report, and the possible outcomes of diagnostic genomic testing.
Consent and Legal Implications in Genomic Testing
This module gives an overview of the important points to cover during informed consent for diagnostic genomic testing.
The issues to discuss during consent differ when testing for a known familial mutation, and it is then best to seek support from a clinical genetics service.
Discussing Diagnoses and Results with Patients
This module outlines the possible results of genomic testing and how patients can be supported through these results. It presents some of the expected responses and how to approach patient-centred support when discussing the results.
