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Disease Markers
Volume 15, Issue 1-3, Pages 139-143

Uptake of Genetic Testing and Pre-Test Levels of Mental Distress in Norwegian Families with Known BRCA1 Mutations

Jon G. Reichelt,1,2 Alv A. Dahl,2 Ketil Heimdal,1 and Pål Møller1

1Unit of Medical Genetics, The Norwegian Radium Hospital, University of Oslo, 0310 Oslo, Norway
2Department of Psychiatry, Aker Hospital, University of Oslo, 0320 Oslo, Norway

Received 9 December 1999; Accepted 9 December 1999

Copyright © 1999 Hindawi Publishing Corporation. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


232 family members from 27 Norwegian families with BRCAl mutations were offered genetic testing. 180/232 (78%) chose to be tested, 14/232 (6%) have not yet decided and 38/232 (16%) declined. All 232 persons were invited to fill in the following questionnaires when offered testing: Impact of Event Scale (IES), Hospital Anxiety and Depression Scale (HADS), General Health Questionnaire (GHQ-28) and Beck Hopelessness Scale (BHS). 207/232 (89%) responded to the questionnaires. Of those declining to be tested 23/38 (61%) answered the questionnaires compared to 170/180 (94%) of those wanting the test (p < 0.0001).

A higher proportion of females with a history of cancer than females without such a history had abnormal scores on the IES-intrusion and GHQ questionnaires (p < 0.001). Healthy females who were deciding on predictive testing had the same or lower prevalence of mental distress compared to the general population, between 4.3% and 18.0% as measured by the different questionnaires. Males did not differ from healthy females on any of the measures.

According to their HADS scores, women without a history of cancer deciding on predictive testing for breast-ovarian cancer had lower or equal levels of mental distress compared to the general population. The high uptake of genetic testing combined with the lower than normal prevalence of mental distress indicates that the activity may continue as practised, awaiting longitudinal data concerning the levels of mental distress after genetic testing.