GENETIC TESTING - PART I 

Minerva Biotecnologica 2000 March;12(1):15-24

Copyright © 2000 EDIZIONI MINERVA MEDICA

lingua: Inglese

Relevance of genetic counselling in genetic testing

Lalatta F. ¹, Goldwurm S. ²

¹ Istituti Clinici di Perfezionamento, Milano, Italy; ² Clinica Pediatrica, Centro di Ricerca «M. Tettamanti», Università degli Studi Milano-Bicocca, Monza (Milano), Italy

In ­this ­review we ­describe the theo­ret­i­cal frame­work, ­goals, and ­unique ­approach to ­patient ­care ­that are the ­basis of med­i­cal genet­ics and genet­ic coun­sel­ling. Starting ­from the fif­ties, genet­ic coun­sel­ling has pro­gres­sive­ly ­evolved to cov­er sev­er­al are­as of med­i­cal genet­ics includ­ing new­born screen­ing, car­ri­er detec­tion, pre­na­tal diag­no­sis, test­ing for ­late ­onset dis­eas­es, ­along ­with the ­most tra­di­tion­al ­role con­nect­ed ­with diag­no­sis and repro­duc­tive ­risk iden­tifi­ca­tion. Request on a vol­un­tary ­basis, ­equal ­access, com­plete dis­clo­sure of infor­ma­tion, ­respect of auton­o­my, non-direc­tiv­ness, con­fi­den­tial­ity as ­well as atten­tion to psy­cho­so­cial and affec­tive dimen­sions are gen­er­al prin­ci­ples uni­ver­sal­ly rec­og­nized in the prac­tice of genet­ic coun­sel­ling. Therefore it is impor­tant to ­train genet­i­cists and ­enable ­them to ­deal ­with affec­tive respons­es ensur­ing ­client’s under­stand­ing and prop­er man­age­ment of infor­ma­tion. Our Country ­still ­lacks a prop­er net­work of med­i­cal genet­i­cists and has to ­invest ­more in creat­ing the nec­es­sary resourc­es for the edu­ca­tion and enrol­ment of new spe­cial­ists ­ready to han­dle the increas­ing ­present and ­future ­demand for coun­sel­ling.