Genetic tests are growing and represent one of the major activities of the services of Medical Genetics. The last SIGU census showed that in 2011 were made more than 260,000 molecular genetic tests (+ 6% compared to 2007). Genetic tests are often expensive (on average about € 1,000) and have important consequences on patients and their families. SIGU is committed in the definition of the correct indication to order a diagnostic genetic test, suggesting primarily the need for counseling by medical geneticists and specialists and defining the standards required for the laboratories that provide genetic testing (http://www.sigu.net/show/documenti/5/1/linee%20guida). The Executive Board of SIGU, in agreement with the coordinators of the SIGU Working Groups (Public Health, Clinical Genetics, Cytogenetics, Molecular Genetics, Pharmacogenetics, Forensic Genetics and Epigenetics), focused on testing performed more frequently and for which it is essential define the appropriateness: Deficit-methylene Tetrahydrofolate-reductase (MTHFR, 18.526 tests performed in 2011); generic diagnosis of Mendelian diseases in anticipation of pregnancy or in the process of ART; susceptibility to celiac disease (HLA-DQ2 / DQ8, 11,824 tests); Deficit factor V (F5 Leiden, 24.834 tests) and Deficit factor II (20.393 tests).
The campaign DOING MORE DOES NOT MEAN DOING BETTER – CHOOSING WISELY ITALY is promoted by Italy’s Slow Medicine
Recent Comments