Delivery models for predictive genetic testing: preliminary results of a systematic reviewBrigid Unim

European Journal of Public Health, Nov 2016

Unim, B, Lagerberg, T, Adamo, G, Pitini, E, D’Andrea, E, Vacchio, MR, De Vito, C, et al.

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Delivery models for predictive genetic testing: preliminary results of a systematic reviewBrigid Unim

9th European Public Health Conference: Parallel Sessions 189 6.K. Pitch presentations: From genomics to vaccination in promoting health Delivery models for predictive genetic testing: preliminary results of a systematic review Brigid Unim Background Research on the integration of genomic knowledge into clinical practice and public health is in an early phase, and many concerns remain. The aim of this study is to identify, classify, and evaluate delivery models for the provision of predictive genetic testing in Europe vs. extra-European (Anglophone) countries. Methods A systematic review of the literature was conducted to identify existing genetic delivery models. Inclusion criteria were that articles be: published 2000-2015; in English or Italian; and from European or non-European countries (Canada, USA, Australia or New Zealand). Additional policy documents were retrieved from represented countries’ government-affiliated websites (non-systematic search). Results A total of 117 records were included, reporting on 148 genetic programmes. The programmes integrated into healthcare systems were 99 (64.9%), 49 (33.1%) were pilot programmes and 4 (2.7%) were direct-to-consumer genetic services. Most programmes were delivered in the United Kingdom (58, 39.2%), USA (35, 23.6%) or Australia (16, 10.8%). Tests for hereditary breast and ovarian cancer and Lynch syndrome were most commonly offered (39.9% and 12.8% of programmes, respectively). Many of the genetic tests offered have insufficient clinical validity or utility. The identified genetic programmes can be classified into five basic genetic service models based on which type of healthcare professional has the most prominent role in test referral: I) the geneticists model; II) the primary care model; III) the medical specialists model; IV) the population screening programmes model; V) and the direct-to-consumer model. Rudimentary evaluation of the identified programmes will be made based on outcomes and process measures of the models. Conclusions This review, as part of an European multicenter study, will facilitate the identification of appropriate models, outcome and process measures for the provision of predictive genetic testing in Europe. Key messages:  Current genetic services are delivered without standardized set of process and outcome measures, which are essential for the evaluation of healthcare services  Identification of appropriate genetic services delivery models is important for the implementation of genetic applications of proven efficacy, effectiveness and costeffectiveness B Unim1, T Lagerberg2, G Adamo1, E Pitini1, E D’Andrea1, MR Vacchio1, C De Vito1, P Villari1 1 Department of Public Health and Infectious Diseases, Sapienza University of Rome, Rome, Italy 2 Better Value HealthCare Ltd, Oxford, UK Contact: (...truncated)


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Unim, B, Lagerberg, T, Adamo, G, Pitini, E, D’Andrea, E, Vacchio, MR, De Vito, C, Villari, P. Delivery models for predictive genetic testing: preliminary results of a systematic reviewBrigid Unim, European Journal of Public Health, 2016, Volume 26, Issue suppl_1, DOI: 10.1093/eurpub/ckw169.043