title: [Psychosocial consequences of presymptomatic genetic testing. A retrospective study of testing for Huntington disease].
abstract: We studied the psychological impact and psychosocial consequences of direct presymptomatic testing for Huntington's disease in Norway. We interviewed 30 out of a total of 43 persons at risk for Huntington's disease who had been tested one to three years earlier, and had been through the test program, and 19 of their spouses. We also included 16 persons at risk who had decided not to take the test. 22 persons were non-carriers, and seven carriers. One had decided not to know the answer so far. 13 out of 30 answered that the risk of getting Huntington's disease had influenced choices they had made in their lives, but quite a few did not know that they were at risk before they had grown up. Six couples out of 21 had divorced after the test; only three said it happened because of the test result. The main problem for many of the persons who now know they are non-carriers is that siblings already are sick or know they will get the disease. 15 persons (50%) experienced the need for some kind of psychiatric treatment during the pre-test period, during the test procedure, or after the test. Eight persons said they had wanted a closer follow-up after the test; most of them had got a negative answer. In this study most of those at risk had adapted reasonably well to the test results. Only seven persons out of 30 were found to be carriers in our study. We therefore have reason to believe that among the 13 tested persons who declined to be involved in the study, the majority had been identified as carriers. Our findings may lend support to a hypothesis suggesting two kinds of response to being identified as carrier. According to studies of post-traumatic stress disorders, one group adjusts reasonably well. The other group responds by avoiding follow-up contact with professional teams, which suggests more psychosocial pain and distress.
authors.affiliation: Senter for sjeldne sykdommer og syndromer, Rikshospitalet, Oslo.
authors.forename: L B
authors.initials: LB
authors.lastname: Jakobsen
authors.forename: U
authors.initials: U
authors.lastname: Malt
authors.forename: B
authors.initials: B
authors.lastname: Nilsson
authors.forename: S
authors.initials: S
authors.lastname: Rosenlund
authors.forename: A
authors.initials: A
authors.lastname: Heiberg
mesh_terms: D000223:Adaptation, Psychological; D000328:Adult; D001294:Attitude to Health; D005260:Female; D005500:Follow-Up Studies; D020022:Genetic Predisposition to Disease / Q000523:psychology*; D005820:Genetic Testing / Q000523:psychology*; D006801:Humans; D006816:Huntington Disease / Q000175:diagnosis* / Q000235:genetics / Q000523:psychology; D008297:Male; D008875:Middle Aged; D009664:Norway; D012189:Retrospective Studies; D012307:Risk Factors; D011795:Surveys and Questionnaires
vernacular_title: Psykososiale konsekvenser av presymptomatisk gentest. Etterundersøkelse ved Huntingtons sykdom.