Abstract

In the postgenomic era, we are witnessing rapid progress in the identification of the molecular basis of human inherited disorders and the elucidation of genotype-phenotype relationships. The rate of progress has been driven not only by the determination and ongoing decipherment of the human genome sequence but also by the advent of new technological developments that have dramatically reduced the costs of genetic analysis. As a consequence, a considerable number of genetic testing centers have emerged, both in Europe and the USA, which together offer a plethora of different genetic tests. We have performed a nationwide survey of 18 private genetic testing laboratories in Greece in order to acquire a better understanding of the genetic testing services that these centers provide, specifically the types of genetic test offered, the target groups, marketing channels, costs of analysis and accreditation. Molecular genetic and cytogenetic testing were found to be the predominant types of genetic testing services offered although there is an increasing demand for pharmacogenomic testing. The main target group for private genetic testing laboratories is the physicians who are approached via the internet, through personal contacts from sales representatives and at scientific conferences. Genetic testing costs are fairly low in Greece. Although the majority of private genetic laboratories either employ or collaborate with a genetic counselor, few of them are accredited for the provision of genetic testing services. This study constitutes the basis for a critical appraisal of the private genetic testing environment in Greece and provides a model for replication in other European countries.

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