Abstract
BackgroundResearch in the field of genomics and genetics has evolved in recent years and so has the demand of consumers who are increasingly interested in genomic prediction of diseases and various traits. The aim of this study is to identify genetic service delivery models, policies governing the use of genomics medicine, and measures to evaluate genetic services in the province of Quebec, Canada.MethodsAn ad hoc questionnaire was designed and administered online in 2017 to healthcare workers with good knowledge or experience in the provision of BReast CAncer genes 1 and 2 (BRCA1/2), Lynch syndrome, familial hypercholesterolemia, inherited thrombophilia genetic tests, engaged in policy planning or evaluation of genetic services. A quali-quantitative analysis of the survey results was performed.ResultsThirty professionals participated in the study. The delivery models are classified in five categories according to the leading role of healthcare professionals in patient care pathways: i) the geneticist model; ii) the primary care model; iii) the medical specialist model; iv) the population screening program model; and v) the direct-to-consumer model. Barriers to genetic services are the coverage of genetic tests by the publicly funded healthcare system, the availability of qualified personnel, and the number of genetic centers. Regulatory oversight concerning the provision of genetic services appears to be insufficient.ConclusionsIntegration between genetics and the overall healthcare system in Quebec is in an early phase. Current models of genetic services require good level of genetic knowledge by all medical specialists, collaboration among different healthcare personnel, and work redistribution. The proper implementation of genomics into healthcare can be achieved through education and training, proper regulatory oversight, genomic policies, and public awareness.
Highlights
Personalized medicine has been adopted worldwide after the completion of the first sequence of human genome in 2003 (Collins et al, 2003)
In order to provide an evidence base, the present study aims to identify genetic service delivery models for the four selected genetic tests (BRCA1/2, LS, FH, and FT), genomic policies and measures in place to evaluate genetic testing and related services in the province of Quebec
In order to describe the different aspects of genetic service provision and its related issues in the second most populous Canadian province, we present survey responses by 30 healthcare personnel who are currently involved in clinical practice, research, or policy making concerning genetic services in Quebec
Summary
Personalized medicine has been adopted worldwide after the completion of the first sequence of human genome in 2003 (Collins et al, 2003). A genetic service delivery model combines healthcare services for individuals (i.e., diagnosis and treatment of genetic disorders) and public health services and activities (i.e., population-based screening, policy making, financing, information and education of healthcare workers and the general population, service performance assessment, and research) (Unim et al, 2017). Another concern is the early introduction in practice of applications with insufficient evidence of analytical and clinical validity and clinical utility (Khoury et al, 2007; Scheuner et al, 2008). The aim of this study is to identify genetic service delivery models, policies governing the use of genomics medicine, and measures to evaluate genetic services in the province of Quebec, Canada
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