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Examination of a new model of genetic counselling and assessing a demographically diverse patient population attending hereditary cancer genetic counselling services

University of British Columbia

The popularity of genetic testing and counselling for hereditary cancer syndromes has increased rapidly in the past decade due to a decrease in genetic sequencing costs, increase in public interest, and increase in medically actionable results. As the demand for genetic testing services has increased, the wait times for patients to receive genetic testing and counselling has also increased. In order to increase patient access to genetic testing and counselling, genetics services must examine new genetic counselling models and ensure that historically under-served patient populations are receiving equitable health outcomes. In this thesis I have examined the impact of a new model of genetic counselling termed oncology clinic-based genetic counselling, examined patient demographics at the Hereditary Cancer Program (HCP) in British Columbia Canada, and assessed patient reported outcome measures (PROMs) from patients receiving genetic testing and counselling. I found that oncology clinic-based genetic testing and counselling significantly reduced patient wait times from referral to return of genetic testing results compared to traditional genetic counselling (403 vs 198 days; p < 0.001). Secondly, oncology clinic-based genetic testing and counselling was acceptable to both patients and healthcare providers. Furthermore, I found that all ethnic minority patient populations are under-represented at the HCP, and patients of Asian ethnicity are significantly more likely than patients of European ethnicity to receive a pathogenic variant (p < 0.001) or variant of uncertain significance (p < 0.001) genetic test result. Lastly, from analyzing PROMs from patients attending the HCP I found that patients of self-expressed Asian ethnicity experience increased distress (p = 0.003) and uncertainty (p < 0.001) compared to patients of European ethnicity. These results show that new models for genetic testing and counselling increase patient access by decreasing wait times and are acceptable to patients. As well, ethnic minority patients are underrepresented at the HCP, receive more complicated genetic diagnoses, and experience more negative feelings from genetic testing. In order to increase access to genetic testing and counselling services, increase ethnic minority population participation, and decrease health outcome inequities, new genetic counselling models and the modification of current genetic counselling models are necessary.

Text

2020-08-27

Attribution-NonCommercial-NoDerivatives 4.0 International

http://hdl.handle.net/2429/75722

Interdisciplinary Oncology

University of British Columbia

UBCV

http://creativecommons.org/licenses/by-nc-nd/4.0/