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Rivista di Biologia Molecolare e Biotecnologie
Indexed/Abstracted in: EMBASE, Science Citation Index Expanded (SciSearch), Scopus
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GENETIC TESTING - PART II
Minerva Biotecnologica 2000 Giugno;12(2):91-97
Italian guidelines for genetic testing
Istituto Superiore di Sanità, Rome, Italy
During the past decade, scientists have been making remarkable progress in discovering genes related to human diseases, due to a great extent to the progress in the Human Genome Project. Following these advances, several genetic tests have been developed to diagnose diseases in patients with symptoms and/or predict the risk of future diseases in healthy people. It is likely that genetic tests will become part of current medical practice over the next few years. In the meanwhile, reasonable ethical, legal and social concerns arise about the management of genetic technologies and tests, including also problems of discrimination and privacy.
Like other countries (e.g., USA, UK) Italy too has seen considerable debate about the potential risks and benefits of the use of genetic tests; in 1997 the Italian Government has organized a Task Force in order to prepare National Guidelines for genetic testing. The full document has been completed in May 1998 and approved by the Italian National Institute of Health (Istituto Superiore di Sanità) and the National Committee for Biosafety and Biotechnology (Comitato Nazionale per la Biosicurezza e le Biotecnologie). The general objectives of the document are: a) ensuring the safety and effectiveness of both existing and newly introduced genetic tests; b) defining the criteria for quality assurance of laboratories performing genetic tests; c) ensuring both adequate counselling and the autonomous decision of individuals and families; this will require social and psychological support by qualified professionals and a particular attention to problems concerning ethics and privacy. Some topics deserving a specific concern have been identified within genetic testing, namely: prenatal diagnosis, susceptibility to cancer and rare diseases.