A nationwide genetic testing survey in Italy, year 2007

Genetic Testing and Molecular Biomarkers
Bruno DallapiccolaRita Mingarelli

Abstract

The aim of this study was to collect the practices of cytogenetic and molecular genetic testing and genetic counseling activities in Italy in the year 2007 and provide guidance to the national and regional health systems to improve the organization of genetic services. A web-based survey was carried out to assess the total number and the type of analyses, the number and type of genetic counseling sessions, and the personnel attending these activities. The quality management system of the responding structures, in terms of certification and accreditation standards, was also investigated. The appropriateness of requests for genetic testing was evaluated for six disorders. Data were collected from 278 responding centers, half of which were located in the northern regions of the country. Twenty-eight percent of the total were certified according to quality standards. A total of 217 molecular genetic and 171 cytogenetic laboratories, and 102 clinical genetic services were surveyed. About 560,000 genetic tests, including 311,069 cytogenetic and 248,691 molecular genetic analyses of 556 genes, were recorded. The fetal karyotype was examined on either trophoblast or amniocytes in about one of every 4.4 pregnancies. Only 11.5% of cytoge...Continue Reading

References

May 26, 2006·European Journal of Human Genetics : EJHG·Bruno DallapiccolaRita Mingarelli
Jun 19, 2007·Community Genetics·Margaret M McGovernElettra Ronchi
Jul 20, 2007·European Journal of Human Genetics : EJHG·Joris Robert VermeeschOrsetta Zuffardi
Apr 15, 2008·Genetic Testing·Margaret M McGovernIra M Lubin
Nov 15, 2008·Prenatal Diagnosis·J M Friedman

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Citations

Sep 21, 2013·QJM : Monthly Journal of the Association of Physicians·C MarzuilloP Villari
Nov 18, 2014·Genetic Testing and Molecular Biomarkers·Ilaria StanghelliniAntonio Percesepe
Dec 18, 2013·Birth Defects Research. Part A, Clinical and Molecular Teratology·Diana CarliAntonio Percesepe
Mar 8, 2013·Health Policy·Benedetto SimoneUNKNOWN GENISAP Network
Jul 8, 2011·Public Health Genomics·R N BattistaN Leduc
Mar 19, 2016·BMC Health Services Research·Daniela GiardinoBruno Dallapiccola

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