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Minerva Biotecnologica 2000 June;12(2):91-97

lingua: Inglese

Italian guide­lines for genet­ic test­ing

Taruscio D.

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.

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