Italian Society of Human Genetics

released: 1 February 2015
last updated: 1 February 2015

How this list was created:

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 ( 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).

About this society:

The Italian Society of Human Genetics (SIGU) brings together professionals in Italy dealing with Human Genetics and Medical Genetics. This discipline plays quite a relevant role within the National Health System. Indeed services of Medical Genetics (including more than 500 centers of Clinical Genetics and Genetics Laboratory) are engaged in the diagnosis and investigation of all the diseases due to genetic alterations (more than 7000), which may be due to individual genes (monogenic diseases) or up to whole chromosomes (chromosome disorders). More than 1000 members SIGU are active in all Italian regions, two thirds of whom are under the age of 50, most women (73%), including profiles of biologist and medical doctor that are represented as 73 % and 12%, respectively.For more details: