Comprehensive analysis of the Ontario eligibility criteria for Hereditary Breast and Ovarian Cancer Syndrome
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Authors
Dos Santos Vidal, Ricardo
Date
Type
thesis
Language
eng
Keyword
BRCA1 , BRCA2 , Genetic Testing , Hereditary Breast and Ovarian Cancer Syndrome , Ontario , Eligibility Criteria , Germline Mutations
Alternative Title
Abstract
Germline mutations in breast and ovarian cancer are rare, with approximately 10% and 13% being hereditary in origin, respectively. In 2001, the Ontario Ministry of Health and Long Term Care (MOHLTC), in an effort to contain costs, defined criteria to determine an individual’s eligibility for BRCA genetic screening. Using real-world data from Kingston General Hospital (KGH) and Mt. Sinai Hospital (Toronto), we assessed if the long-standing program that has been in use in Ontario for nearly two decades provides real-world evidence for their effectiveness. From our studies we have produced the following recommendations to expand and/or improve the existing eligibility guidelines:
1. Clinical geneticists and genetic counselors should adhere strictly to risk criteria guidelines as this appears to be an economical approach that should not reduce the effectiveness of screening;
2. Add an additional criterion to include probands who do not themselves have ovarian cancer but who have first degree relatives with ovarian cancer, may be useful.
3. Change the risk criteria #10 requirements to include an age cut-off that maximizes the capture rate of carriers while reducing noncarriers. Our data show this value to potentially be 60 years old;
4. Risk assessment tools should be applied rigorously and consistently for all patients. Standardizing these practices ensure a normalized approach for all patients;
5. Do not test individuals that fail to meet eligibility criteria nor risk assessment tool risk thresholds;
6. Objectively describing what constitutes “clinical suspicion” RC#13 may help standardize how this risk criteria is assigned across institutions.
7. Information collection and exchange of patient data within the context of BRCA1/2 screening should be standardized across all institutions in Ontario.
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ProQuest PhD and Master's Theses International Dissemination Agreement
Intellectual Property Guidelines at Queen's University
Copying and Preserving Your Thesis
This publication is made available by the authority of the copyright owner solely for the purpose of private study and research and may not be copied or reproduced except as permitted by the copyright laws without written authority from the copyright owner.