Psychological impact of receiving aBRCA1/BRCA2 test result

Abstract

Mutation analysis for autosomal dominant hereditary breast/ovarian cancer genes (BRCA1/BRCA2) became an important technique for women at risk of carrying these mutations. Healthy female mutation carriers have a high lifetime risk for breast and/or ovarian cancer and may opt for frequent breast and ovary surveillance or prophylactic surgery (mastectomy and/or oophorectomy). Psychological distress was assessed in 78 healthy women at risk of having inherited a BRCA1/BRCA2 mutation opting for genetic testing and 56 partners several weeks prior to ("pre-test") and after ("post-test") learning about their DNA test result. Twenty-five women were found to be mutation carriers, and 53 were non-mutation carriers. One goal of the study was to identify individuals at risk for high distress in the weeks following disclosure of the test result. Interview transcripts were used to give a fuller picture of pre- and post-test distress. High post-test anxiety was reported by 20% of the mutation carrier women and by 35% of their partners. Eleven percent of women without the mutation and 13% of their partners reported high post-test anxiety levels. High post-test anxiety in women was significantly related to 1) a high level of pre-test anxiety and 2) being a mutation carrier. Women without a mutation who had a sister identified as a mutation carrier recently had higher post-test levels of depression than the other non-mutation carriers. It is suggested to consider seriously the need for psychological support in mutation carriers who had been anxious at pre-test already. For most non-mutation carriers, psychological follow-up might be of lesser importance, but those having a sister receiving an unfavorable test result should be informed about the possibility that they might not feel relief.

Randomised trial of a decision aid and its timing for women being tested for a BRCA1/2 mutation

“…Previous studies on genetic testing for a BRCA1/2 mutation did not find substantial psychological morbidity among women initiating genetic testing or receiving a positive test result (Lerman et al, 1996(Lerman et al, , 1998Croyle et al, 1997;Lodder et al, 1999Lodder et al, , 2001Coyne et al, 2000;Schwartz et al, 2002), which is in agreement with the well-being levels in our study. The DA had no negative impact on a broad range of well-being outcomes, and did not deter women from receiving their test result, while it improved understanding of the treatment options and consequences.…”

Psychiatric implications of cancer genetic testing

“…53 Other studies have not reported any change in psychological risk with positive test results. 32,33,40,[57][58][59][60][61][62] Nonetheless, women who test positive for BRCA1/BRCA2 are also often met with resistance, shock, and other negative emotions from family members. [63][64][65][66] Similarly studies of individuals undergoing HNPCC testing demonstrate that the individual experiences of both unaffected and affected carriers are varied, but the majority experience an overall decrease in anxiety and depression.…”

“…The most robust predictor of future distress is distress at baseline. 32,49,[57][58][59]68,[74][75][76][77] Additional risk factors include prior psychiatric history of depression, 74 history of using psychotropic medications, 75 passive or avoidant coping styles, 51,75,[80][81][82] or inaccurate risk perception, [85][86][87] which put individuals at risk of experiencing distress throughout the process or many years after receiving their results. Other important risk factors for future distress include being the first member of the family to obtain genetic testing, 33 having children, 76 experiencing the death of a relative from hereditary cancer, 34,78 as well as experiencing unresolved loss 5 and complicated grief.…”

“…A psychiatric history of major or minor depression, 74 a history of psychopharmacologic medication use, 75 higher pretest anxiety, and higher levels of distress at the time of testing also increase the risk for anxiety or distress after receiving genetic testing results. 32,49,[57][58][59]68,[75][76][77] Studies also suggest that both women with children and the first family member to pursue testing are more likely to be distressed. 33,76 Another important risk factor for psychological distress during cancer genetic susceptibility testing for both BRCA1/BRCA2 and HNPCC is whether or not the individual undergoing testing has experienced the loss of a relative to a hereditary cancer, especially for individuals who had a parent die when they were children.…”

Prédisposition génétique aux cancers du sein et de l’ovaire

“…L'évaluation des effets psychologiques de la communication des résul-tats des tests génétiques pour les personnes non malades n 'ayant pas la mutation délétère familiale d'un des gènes BRCA1/2 montre une diminution du niveau de détresse générale (dépression/anxiété) et du niveau de détresse plus spécifiquement liée à la maladie dans les suites des résultats [17,18]. Lodder a souligné la présence de niveaux de dépression élevés pour les femmes n 'ayant pas de mutation et dont une soeur était positive pour cette même mutation [19]. Pour les personnes non malades porteuses d'une mutation délétère, une augmentation de ces s ymptômes était observée après le rendu des résultats avec retour vers des seuils plus faibles pendant le suivi au long cours [20].…”