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