Date of Award


Document Type

Thesis - Open Access

Degree Name

MS Human Genetics


Human Genetics Graduate Program


Polygenic tests such as genome-wide small nucleotide polymorphism (SNP) risk testing, exome or genome sequencing are currently on the horizon for genetic testing for inherited cancer risk. We are unsure of how patients would accept this future genetic testing and the best way to fully understand the experience of undergoing a polygenic test for breast cancer risk is to explore the experience of women who have already undergone the process. In Ontario, these individuals are those who have already had gene panel testing (GPT). This group’s opinions and experiences will be directly related to the refinement and modification of the existing GPT process and will provide guidance for polygenic testing offered in the future. Methods: Fourteen women who have undergone GPT in the past year were interviewed in a semi-structured manner regarding their GPT experience. Interviews were recorded and transcribed, then qualitatively coded to identify key words, phrases, and expressed concepts surrounding GPT. Results: Participants had an overall favourable opinion regarding their GPT experience, with minor changes to be considered in future provision of GPT. In general, GPT appears to be well-tolerated within the context of a traditional genetics assessment and participants that did not receive a clinically significant result through GPT felt that they would be open to pursuing other forms of genetic testing in the future such as polygenic testing, despite the possibility of receiving an uncertain result.

Included in

Genetics Commons