Educational resources


Interactive guide | Genetic and genomic testing

An overview of genetic and genomic test processes: from identifying patients and selecting tests, through to reporting results, post-test counselling and further management.

Download an infographic based on the interactive guide


Video | Introduction to clinical genomics

A 13-minute introductory presentation providing an overview of the range of genetic variants, different types of genetic and genomic tests, classification of genomic variants and possible clinical actions based on genomic test results.


e-Book | Clinical genomics: The background biology

An introduction to the core biological concepts for understanding genetic and genomic testing and the classification and interpretation of genomic variants for clinical relevance. Includes links to short animations illustrating biological concepts and a glossary of genomic terminology.


Glossary | Terminology for genomics and variant interpretation


Guide│Inheriting variants

A summary of the modes of genetic inheritance and their representation in family histories through ‘pedigree’ diagrams.