Pharmakogenetik - Wegezu einer individualisierten therapie?

This article provides a general introduction into the field of pharmacogenetics and discusses its opportunities and limits. Pharmacogenetic research explores genetic variability between patients to explain observed differences in effectiveness of a drug therapy or adverse event profiles. Sometimes drug therapy is unfavourable: Patients may respond only partially to a drug therapy, do not respond at all, or suffer from serious adverse events. The reasons for the varying effectiveness of a drug therapy are due to factors like absorption, metabolism, elimination and target interaction. Recent research has led to a better understanding of the molecular genetic mechanisms behind those factors. Numerous new polymorphisms have been described, for example for the β2-adrenergic receptor or the cytochrome which can either improve or reduce the response to drug therapy. Two polymorphisms for the tumour necrosis factor α have shown to be associated with an increased risk of serious adverse events (hypersensibility: fever, rash, gastrointestinal symptoms) if treated with abacavir (HIV-treatment). Pharmacogenetic tests provide information about certain polymorphisms and raise the hope for an individualised pharmacotherapy. Yet, not only genetic but also environmental factors influence the effectiveness of a therapy. Even though results from research implies that pharmacogenetics has a great potential to maximize the effectiveness of pharmacotherapy and to reduce the incidence of drug-related adverse events, extensive clinical research both on effectiveness and costs is required to assess the true benefits of these exciting new technologies.