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INTRODUCTION: The appropriate application of genomic technologies in healthcare is surrounded by many concerns. In particular, there is a lack of evidence on what constitutes an optimal genetic service delivery model, which depends on the type of genetic test and healthcare context considered. The present project aims to identify, classify, and evaluate delivery models for the provision of predictive genetic testing in Europe and in selected Anglophone extra-European countries (the USA, Canada, Australia, and New Zealand). It also sets out to survey the European public health community's readiness to incorporate public health genomics into their practice. MATERIALS AND EQUIPMENT: The project consists of (i) a systematic review of published literature and selected country websites, (ii) structured interviews with health experts on the genetic service delivery models in their respective countries, and (iii) a survey of European Public Health Association (EUPHA) members' knowledge and attitudes toward genomics applications in clinical practice. The inclusion criteria for the systematic review are that articles be published in the period 2000-2015; be in English or Italian; and be from European countries or from Canada, the USA, Australia, or New Zealand. Additional policy documents will be retrieved from represented countries' government-affiliated websites. The results of the research will be disseminated through the EUPHA network, the Italian Network for Genomics in Public Health (GENISAP), and seminars and workshops. EXPECTED IMPACT OF THE STUDY ON PUBLIC HEALTH: The transfer of genomic technologies from research to clinical application is influenced not only by several factors inherent to research goals and delivery of healthcare but also by external and commercial interests that may cause the premature introduction of genetic tests in the public and private sectors. Furthermore, current genetic services are delivered without a standardized set of process and outcome measures, which makes the evaluation of healthcare services difficult. The present study will identify and classify delivery models and, subsequently, establish which are appropriate for the provision of predictive genetic testing in Europe by comparing sets of process and outcome measures. In this way, the study will provide a basis for future recommendations to decision makers involved in the financing, delivery, and consumption of genetic services.

Original publication




Journal article


Front Public Health

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expert interviews, genetic delivery models, genetic services, genetic testing, systematic review