Exploring expanded carrier screening in Canadian genetics services
| dc.contributor.author | Michalski, Dorothy | |
| dc.contributor.examiningcommittee | Driedger, Michelle (Community Health Sciences) | en_US |
| dc.contributor.examiningcommittee | Hartley, Jessica (Biochemistry and Medical Genetics) | en_US |
| dc.contributor.examiningcommittee | Spriggs, Beth (Diagnostic Services, Shared Health) | en_US |
| dc.contributor.supervisor | Carriles, Claudia (Biochemistry and Medical Genetics) | en_US |
| dc.date.accessioned | 2022-02-15T17:11:46Z | |
| dc.date.available | 2022-02-15T17:11:46Z | |
| dc.date.copyright | 2022-02-15 | |
| dc.date.issued | 2022 | en_US |
| dc.date.submitted | 2022-02-10T22:02:06Z | en_US |
| dc.date.submitted | 2022-02-15T16:08:41Z | en_US |
| dc.degree.discipline | Biochemistry and Medical Genetics | en_US |
| dc.degree.level | Master of Science (M.Sc.) | en_US |
| dc.description.abstract | Expanded carrier screening (ECS) is a genetic test that can screen an individual for their carrier status for hundreds of genetic conditions. This test is not part of routine healthcare in Canada however is accessible to Canadians as a private pay genetic test. ECS has been available for approximately a decade, during which time studies have explored American and European genetic health professionals’ (GHPs) experiences and opinions of ECS and have identified potential challenges and opportunities for ECS in the genetics clinic. The opinions and experience of Canadian GHPs with ECS has yet to be explored and may be uniquely shaped by working in a public healthcare system. This study used a mixed-methods design using both quantitative (survey) and qualitative (interview) data to explore ECS in the Canadian genetics clinic. GHPs recruited to the study included genetic counsellors, geneticists and molecular geneticists currently working in Canada. The majority of survey respondents had experience counselling patients for ECS, did not have an institutional or clinic policy regarding the discussion of ECS and reported that discussions of ECS arose a few times a year. Differences in opinions were observed between respondents with the most ECS experience and those with the least. The majority of survey respondents agreed that with additional training, obstetricians, gynecologists or family physicians are best suited to provide pre-test counselling for ECS. Thematic analysis of the interviews revealed four themes related to GHP experience and opinions: ECS as a reactive option, Canadians should be made aware of ECS, public healthcare barriers to discussing ECS and GHPs as informed healthcare consumers. Overall, the insights gained from this exploratory study provide a foundation for future studies regarding ECS in Canada. | en_US |
| dc.description.note | March 2022 | en_US |
| dc.identifier.uri | http://hdl.handle.net/1993/36306 | |
| dc.language.iso | eng | en_US |
| dc.rights | open access | en_US |
| dc.subject | Expanded carrier screening | en_US |
| dc.subject | Canadian genetics services | en_US |
| dc.subject | Genetic counselling | en_US |
| dc.title | Exploring expanded carrier screening in Canadian genetics services | en_US |
| dc.type | master thesis | en_US |