Identification of delivery models for the provision of genetic testing, policies governing the use of genomic applications and evaluation of genetic services: a multicentre study

The provision of genetic services, along with research in the fields of genomics and genetics, has evolved in recent years to meet the increasing demand of consumers interested in prediction of genomic diseases and various inherited traits (e.g. ability in sports, nutrigenomics, ancestry, etc.). Consumer demand and commercial interests have paved the way for the premature introduction, in the public and private healthcare sectors, of genetic tests with insufficient data on analytical and clinical validity, as well as clinical utility. There is also lack or insufficient evidence of cost-effectiveness of several genetic applications already introduced in clinical and public health practice. These concerns contribute to the lack of evidence on what constitutes an optimal genetic service delivery model, defined as the broad context within the Public Health Genomics framework in which genetic services are offered to individuals and families with or at risk of genetic disorders. The aim of this dissertation is to identify existing genetic service delivery models, policies governing the use of genomic applications, and measures to evaluate genetic testing and related services in Europe and extra-European (Anglophone) countries (Canada, USA, Australia, or New Zealand). Two methodological approaches have been employed, a systematic review of the literature and a cross-sectional study addressing healthcare professionals with good knowledge and/or experience on the provision of BRCA1/2, Lynch syndrome, familial hypercholesterolemia, and inherited thrombophilia genetic testing, policies on genetic applications and evaluation of genetic services. The identification and evaluation of existing genetic service delivery models are important steps towards the enhancement and standardization of genetic service provision. Current models of genetic services require the integration of genetics in all medical specialties, collaboration among different healthcare professionals, and redistribution of professional roles. Prior to implementation in clinical and public health practice, genetic tests should be evaluated based on available efficacy and cost-effectiveness data and offered to the citizens as right to benefit from innovative healthcare. The proper implementation of genomics application in mainstream medicine can be achieved through professional education, training, adequate funding, public policies, and public awareness of the field of genomic medicine.