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. 2020 Mar 4:11:127.
doi: 10.3389/fgene.2020.00127. eCollection 2020.

The Provision of Genetic Testing and Related Services in Quebec, Canada

Brigid Unim  1 , Corrado De Vito  1 , Julie Hagan  2 , Paolo Villari  1 , Bartha Maria Knoppers  2 , Ma'n Zawati  2
Affiliations

The Provision of Genetic Testing and Related Services in Quebec, Canada

Brigid Unim et al. Front Genet. .

Abstract

Background: Research 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.

Methods: An 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.

Results: Thirty 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.

Conclusions: Integration 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.

Keywords: care pathways; delivery model; evaluation; genetic service; genetic testing; policy.

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Figures

Figure 1
Figure 1
Access to genetic services in Quebec. Healthcare professionals providing (A) referrals to genetic counseling services, (B) pre-test genetic counseling, and (C) performing risk assessment, (D) risk assessment tools used in health facilities, (E) care pathways of identified at-risk individuals, (F) healthcare professionals providing referrals to genetic testing.
Figure 2
Figure 2
Pathways after access to genetic services. Healthcare professionals (A) providing post-test genetic counseling, (B) in charge of individuals with a positive genetic test result, (C) involved in the post-test management of individuals with a positive genetic test result, (D) responsible for genetic testing offered to relatives of probands, (E) involved in genetic test results disclosure to relatives of probands, (F) organization of genetic laboratories.
Figure 3
Figure 3
Measures of activity and quality assessment of genetic services. Indicators used for assessment of (A) capacity of and access to genetic services, and (B) quality of genetic services.
Figure 4
Figure 4
Unmet population needs, healthcare providers’ issues and support from public health professionals, (A) population needs are not met by the current provision of genetic services in Quebec, (B) there is lack of integration between genetics and the overall healthcare system, (C) public health professionals can support genetic service providers in several ways.
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