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Genetisk veiledning ved presymptomatisk testing for Huntingtons sykdom
Engelsk titel: Genetic counseling in presymptomatic testing for Huntington disease Läs online Författare: Helle JR ; Braathen GJ ; Pedersen JC ; Skodje T ; Stokke B ; Berg K Språk: Nor Antal referenser: 13 Dokumenttyp: Fallbeskrivning UI-nummer: 00091607

Tidskrift

Tidsskrift for Den Norske Laegeforening 2000;120(20)2412-6 ISSN 0029-2001 E-ISSN 0807-7096 KIBs bestånd av denna tidskrift Denna tidskrift är expertgranskad (Peer-Reviewed)

Sammanfattning

X : Norwegian law and international guidelines require genetic counselling before, during and after presymptomatic testing for Huntington's disease. The genetic counselling of at-risk persons who considers taking tests, includes explanation of the possible implications of a test result for both participant and relatives. The test is performed only when explicitly requested by the participant and after informed consent. The participant decides if and when the test should be conducted. The participant also has major influence on the timing of the consecutive phases of the testing procedure, in compliance with medical and ethical recommendations. This paper reviews main issues raised during genetic counselling and the preparation period preceding the test and communication of the test result. We illustrate different individual situations and backgrounds for considering presymptomatic testing for Huntington's disease by describing three anonymized cases and associated pedigrees.