The current clinical practice of pharmacogenetic testing in Europe: TPMT and HER2 as case studies

The clinical use of pharmacogenetics has so far been overestimated with only a few practical applications currently available. To explore the reasons of this so far limited access to the clinical practice, we have undertaken a survey on the use of tests for the Human Epidermal Growth Factor Receptor 2 (HER2)-overexpression and Thiopurine Methyltransferase (TPMT)-activity in four European countries (UK, Ireland, Netherlands and Germany). The objective of this survey was twofold: to gain insight into the current clinical practice of pharmacogenetics in Europe, and to reveal the factors that influence the implementation of pharmacogenetics in healthcare. From the results it is clear that none of the tests are fully implemented, though HER2 testing is far more widely used than TPMT-activity testing. Barriers to implementation have been identified in the complexity of sample handling and storage, high costs, unclear clinical utility and lack of specialized education, as well as difficult reimbursement. No negative patient response was perceived for either test.JRC.J.5-Agriculture and Life Sciences in the Econom

Planning the Human Variome Project: The Spain report.

The remarkable progress in characterizing the human genome sequence, exemplified by the Human Genome Project and the HapMap Consortium, has led to the perception that knowledge and the tools (e.g., microarrays) are sufficient for many if not most biomedical research efforts. A large amount of data from diverse studies proves this perception inaccurate at best, and at worst, an impediment for further efforts to characterize the variation in the human genome. Because variation in genotype and environment are the fundamental basis to understand phenotypic variability and heritability at the population level, identifying the range of human genetic variation is crucial to the development of personalized nutrition and medicine. The Human Variome Project (HVP; http://www.humanvariomeproject.org/) was proposed initially to systematically collect mutations that cause human disease and create a cyber infrastructure to link locus specific databases (LSDB). We report here the discussions and recommendations from the 2008 HVP planning meeting held in San Feliu de Guixols Spain, in May 2008. Hum Mutat 30, 496-510, 2009. (C) 2009 Wiley-Liss, Incclose31333