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Centre for Genetic Medicine
Centre for Genetic Medicine

Exome and genome sequencing modules

This five part learning tool will provide an introduction to new genetic testing technologies called exome and genome sequencing. The information is meant to be used in preparation for or as a supplement to a more detailed discussion with your doctor and/or genetic counsellor.


Part 1 contains a review of basic genetic concepts (cells, genes, DNA).


Part 2 contains the description of exome and genome sequencing, the benefits and limitations of these tests, as well as information about the types and possible implications of the test results.


Part 3 focuses on a specific type of information that may be found by exome or genome tests called "secondary or predictive findings"


 Part 4 contains a discussion of the potential benefits and drawbacks of exome and genome sequencing that may be relevant in decision making for you and your family.