[Genetic counseling in presymptomatic testing for Huntington disease].
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.
Helle
J R
JR
Avdeling for medisinsk genetikk Ullevål sykehus 0407 Oslo. j.r.helle@ioks.uio.no
Braathen
G J
GJ
Pedersen
J C
JC
Skodje
T
T
Stokke
B
B
Berg
K
K
D000328:Adult; D000368:Aged; D004252:DNA Mutational Analysis; D004992:Ethics, Medical; D005260:Female; D005817:Genetic Counseling / Q000331:legislation & jurisprudence; D020022:Genetic Predisposition to Disease; D006801:Humans; D006816:Huntington Disease / Q000175:diagnosis / Q000235:genetics* / Q000523:psychology; D008297:Male; D008875:Middle Aged; D009664:Norway; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012944:Social Support