Polymorphism-tests are intensively marketed these days: Genosense, Medigenomix etc. propagate a new "medical revolution".
Although classical (monogenetic) hereditary diseases are attributed to a mutation at a single gene, and some multifaceted conditioned cancer-diseases exhibit mutations at isolated genes (f.ex. BRCA 1 & 2) and are caused – to a certain degree – by gene-mutations, nowadays ever more frequently polymorphism-tests for common population-diseases are advertised. The demand even within the public health care system is increasing. Systematic reviews on polymorphism-tests for common population-diseases will lay the basis for guidelines of laboratory medicine. The ITA was accompanying the process.
Commercially advertised tests, supported by modern chip-technology are carried out by private laboratories. The tests are supposed to testify on genetic variances and aberrations. Clinicians of laboratory medicine in public health are increasingly confronted with patients´demand. The essential question is, if - in case of existence of genetic polymorphism an acctual health risk can be deduced, resp. if therapies exist.
A project under the guidance of clinicians of laboratory medicine in the Vienniese university hospital strived at clarifying, if the results of genetic tests and their interpretation are purely speculative and hypotheses or if there is any scientific evidence for correlation and relevant clinical consequences. Systematic reviews on the common population-diseases of hyperlipidemia/hypercholesterinemia, diabetes, venous thrombosis, hypertension, atherosclerosis /arteriosclerosis, stroke, hemochromatosis and pharmacogenetics are carried out with the aim to generate clinical guidelines. The ITA was accompanying the process of supporting the laboratory medicine clinicians and is giving guidance for systematic search and research.
Oosterhuis et al. 2004: Evidence Based Guidelines in Laboratory Medicine: Principle and Methods. In: Cin Chemistry 50:5, 806-18.
10/2004 - 03/2006