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Canada: Public Health Genomics

Little J.a · Potter B.a · Allanson J.b · Caulfield T.c · Carroll J.C.d · Wilson B.a
Departments of aEpidemiology and Community Medicine and bGenetics, Children’s Hospital of Eastern Ontario and Department of Pediatrics, University of Ottawa, Ottawa, Ont., cHealth Law Institute, University of Alberta, Edmonton, Alta., dDepartment of Family & Community Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Ont., Canada Public Health Genomics 2009;12:112–120 (DOI:10.1159/000156113)


Canada has a diverse population of 32 million people and a universal, publicly funded health care system provided through provincial and territorial health insurance plans. Public health activities are resourced at provincial/territorial level with strategic coordination from national bodies. Canada has one of the longest-standing genetics professional specialty organizations and is one of the few countries offering master’s level training designed specifically for genetic counselors. Prenatal screening is offered as part of routine clinical prenatal services with variable uptake. Surveillance of the effect of prenatal screening and diagnosis on the birth prevalence of congenital anomalies is limited by gaps and variations in surveillance systems. Newborn screening programs vary between provinces and territories in terms of organization and conditions screened for. The last decade has witnessed a four-fold increase in requests for genetic testing, especially for late onset diseases. Tests are performed in provincial laboratories or outside Canada. There is wide variation in participation in laboratory quality assurance schemes, and there are few regulatory frameworks in Canada that are directly relevant to genetics testing services or population genetics. Health technology assessment in Canada is conducted by a diverse range of organizations, several of which have produced reports related to genetics. Several large-scale population cohort studies are underway or planned, with initiatives to harmonize their conduct and the management of ethical issues, both within Canada and with similar projects in other countries.


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