[Need of better knowledge of genetic tests among Norwegian physicians]. / Stort behov for kunnskap om gentester blant norske leger.

BACKGROUND: New predictive genetic tests are introduced in clinical work, and this means new tasks for the physician. MATERIAL AND METHODS: Every sixth member of the Norwegian Medical Association practising as a general practitioner, neurologist or psychiatrist (N = 732), were asked to answer a mailed, anonymous questionnaire about their attitudes to the new tasks. RESULTS: We obtained 451 (62%) answers. There were no significant differences between the various groups in the profession. So far, 54% had no patient in their practice who had taken a predictive genetic test. About two-thirds answered that the geneticist should inform about what is known about the consequences after a test result has been given. The general practitioner wants to do the follow-up. 97% of physicians think that the test result could lead to increased distress in various ways for the tested person or his/her family. Half of the physicians would advise taking a prenatal test if one of the parents had a known risk of an inherited disease and the foetus was at risk. Only 22% are in favour of abortion if the foetus has the gene in question. INTERPRETATION: The physicians (93%) do not think they have sufficient knowledge about predictive genetic tests to handle the information procedure on their own. They want courses in medical genetics, concise and relevant information from geneticists, and the possibility of consulting with specialists.

[Psychosocial consequences of presymptomatic genetic testing. A retrospective study of testing for Huntington disease]. / Psykososiale konsekvenser av presymptomatisk gentest. Etterundersøkelse ved Huntingtons sykdom.

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.