{"id":{"repo_id":"calgary","oai_identifier":"oai:ucalgary.scholaris.ca:1880/121816"},"canonical_url":"https://search.dev.ndltd.org/etd/calgary/oai:ucalgary.scholaris.ca:1880/121816","repository":{"repo_id":"calgary","name":"University of Calgary","base_url":"https://ucalgary.scholaris.ca/server/oai/request"},"display":{"title":"Universal Lynch Syndrome Screening in Newly Diagnosed Colorectal Cancer: Impact of an Alberta-wide Screening Program","abstract":"Lynch Syndrome (LS) is the most common cause of inherited colorectal cancer (CRC) and is thought to be present in 2-5% of new CRC diagnoses. LS is caused by a germline mutation in one of the DNA Mismatch Repair (MMR) genes and can be diagnosed through germline genetic testing. Universal tumor screening in all new CRCs using Immunohistochemistry (IHC) to assess for loss of MMR-protein expression allows for identification of individuals at increased risk for underlying LS who would benefit from genetic testing. This thesis reports the results of one study performed with the aim of evaluating the early-phase impact of Alberta’s province-wide universal LS screening program for all new CRCs on rates of germline genetic testing for LS as well as key clinical outcomes and wait-times in Alberta’s LS screening and diagnostic pathway. Our retrospective review of quality assurance data showed an increase in the number of CRCs screened per month, increased proportion of women and people living outside urban centers being screened for LS, as well as an increased odds of being referred to medical genetics after program implementation. An absolute reduction in mean time from cancer diagnosis to all key clinical touchpoints was seen (not statistically significant). After implementation there was no significant difference in screen positive patients being seen by medical genetics or undergoing genetic testing which is suggestive of additional barriers not addressed by universal tumor screening alone. Together, these findings demonstrate a likely net positive impact from universal screening worthy of continued provincial funding but with a need for prospective data collection and monitoring to identify and address barriers encountered by patients who would benefit from medical genetics consultation, germline genetic testing, and enrollment in high-risk cancer screening.","abstract_html":"Lynch Syndrome (LS) is the most common cause of inherited colorectal cancer (CRC) and is thought to be present in 2-5% of new CRC diagnoses. LS is caused by a germline mutation in one of the DNA Mismatch Repair (MMR) genes and can be diagnosed through germline genetic testing. Universal tumor screening in all new CRCs using Immunohistochemistry (IHC) to assess for loss of MMR-protein expression allows for identification of individuals at increased risk for underlying LS who would benefit from genetic testing. This thesis reports the results of one study performed with the aim of evaluating the early-phase impact of Alberta’s province-wide universal LS screening program for all new CRCs on rates of germline genetic testing for LS as well as key clinical outcomes and wait-times in Alberta’s LS screening and diagnostic pathway. Our retrospective review of quality assurance data showed an increase in the number of CRCs screened per month, increased proportion of women and people living outside urban centers being screened for LS, as well as an increased odds of being referred to medical genetics after program implementation. An absolute reduction in mean time from cancer diagnosis to all key clinical touchpoints was seen (not statistically significant). After implementation there was no significant difference in screen positive patients being seen by medical genetics or undergoing genetic testing which is suggestive of additional barriers not addressed by universal tumor screening alone. Together, these findings demonstrate a likely net positive impact from universal screening worthy of continued provincial funding but with a need for prospective data collection and monitoring to identify and address barriers encountered by patients who would benefit from medical genetics consultation, germline genetic testing, and enrollment in high-risk cancer screening.","abstract_has_math":false,"creators":["Iannuzzi, Jordan"],"institution":"Graduate Studies","degree_name":"Master of Science (MSc)","degree_level":null,"degree_discipline":"Medicine – Community Health Sciences","degree_department":null,"school":null,"contributors":[],"advisors":["Heitman, Steven"],"committee_chairs":[],"committee_members":["Brenner, Darren","Perrier, Renee"],"year":2025,"date_issued":"2025-05-22","date_published":"2025-05-22","updated_at":"2026-07-24T01:30:13Z","subjects":["Lynch Syndrome","Population Screening"],"languages":["en"],"rights":["University of Calgary graduate students retain copyright ownership and moral rights for their thesis. 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Universal tumor screening in all new CRCs using Immunohistochemistry (IHC) to assess for loss of MMR-protein expression allows for identification of individuals at increased risk for underlying LS who would benefit from genetic testing. This thesis reports the results of one study performed with the aim of evaluating the early-phase impact of Alberta’s province-wide universal LS screening program for all new CRCs on rates of germline genetic testing for LS as well as key clinical outcomes and wait-times in Alberta’s LS screening and diagnostic pathway. Our retrospective review of quality assurance data showed an increase in the number of CRCs screened per month, increased proportion of women and people living outside urban centers being screened for LS, as well as an increased odds of being referred to medical genetics after program implementation. An absolute reduction in mean time from cancer diagnosis to all key clinical touchpoints was seen (not statistically significant). After implementation there was no significant difference in screen positive patients being seen by medical genetics or undergoing genetic testing which is suggestive of additional barriers not addressed by universal tumor screening alone. Together, these findings demonstrate a likely net positive impact from universal screening worthy of continued provincial funding but with a need for prospective data collection and monitoring to identify and address barriers encountered by patients who would benefit from medical genetics consultation, germline genetic testing, and enrollment in high-risk cancer screening."]},{"key":"dc:title","label":"Title","values":["Universal Lynch Syndrome Screening in Newly Diagnosed Colorectal Cancer: Impact of an Alberta-wide Screening Program"]}]}],"canonical_facts":{"dc:contributor.advisor":["Heitman, Steven"],"dc:contributor.committeemember":["Brenner, Darren","Perrier, Renee"],"dc:creator":["Iannuzzi, Jordan"],"dc:date":["2025-11"],"dc:date.accessioned":["2025-05-26T19:02:12Z"],"dc:date.available":["2025-05-26T19:02:12Z"],"dc:date.issued":["2025-05-22"],"dc:description.abstract":["Lynch Syndrome (LS) is the most common cause of inherited colorectal cancer (CRC) and is thought to be present in 2-5% of new CRC diagnoses. 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