Sagia Aggeliki, Cooper David N, Poulas Konstantinos, Stathakopoulos Vlassios, Patrinos George P
University of Patras, School of Health Sciences, Department of Pharmacy, University Campus, Rion, GR-26504, Patras, Greece.
Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, CF14 4XN, UK.
Per Med. 2011 Jul;8(4):413-420. doi: 10.2217/pme.11.24.
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.
在后基因组时代,我们目睹了在确定人类遗传性疾病的分子基础以及阐明基因型 - 表型关系方面取得的快速进展。进展速度不仅受到人类基因组序列的测定和持续解读的推动,还受到新技术发展的影响,这些新技术极大地降低了基因分析的成本。因此,欧洲和美国都出现了大量的基因检测中心,它们共同提供了大量不同的基因检测。
我们对希腊的18家私人基因检测实验室进行了全国性调查,以便更好地了解这些中心提供的基因检测服务,特别是所提供的基因检测类型、目标群体、营销渠道、分析成本和认证情况。
发现分子遗传学和细胞遗传学检测是提供的主要基因检测服务类型,尽管对药物基因组学检测的需求在增加。私人基因检测实验室的主要目标群体是医生,他们通过互联网、销售代表的个人联系以及在科学会议上与医生接触。希腊的基因检测成本相当低。虽然大多数私人基因实验室雇佣或与遗传咨询师合作,但其中很少有获得提供基因检测服务的认证。
本研究构成了对希腊私人基因检测环境进行批判性评估的基础,并为其他欧洲国家提供了可复制的模式。