Genetic testing services in Europe: Quality assurance and policy issues

摘要

The popular press is painting a picture of a future in which everyone has a detailed DNA profile of themselves drawn up. Such a vision of the future, however, is more science fiction than science practice. Predictive tests for complex diseases and cancer, eg colon cancer and breast cancer, are increasingly being used, and the related, and important, genetic counselling may become complex and comprehensive. Quality assurance in genetic testing for both cytogenetics and molecular genetic testing in Europe is also described. The quality of genetic testing in Europe could be substantially improved, and before a genetic test is accepted as a routine diagnostic or prognostic procedure it should have proven clinical utility. Pharmacogenetic testing looks at the efficacy of medicines and their side effects on patients and patient groups, and is increasingly being used to develop better targeted medicines. Genetic testing services and genetic counselling are structured in different ways in Europe, and organisation and reimbursement differ among European countries. Quality and non-directive genetic counselling must be made an integral part of quality genetic testing services, and be sufficiently reimbursed. European networking and identification of reference centres for quality-based diagnostic testing of genetic diseases should be encouraged. Reimbursement within Europe for sample forwarding should be adapted to allow samples to be tested in countries other than the country of origin of the patient.