What factors may influence psychological well being at three months and one year post BRCA genetic result disclosure?

Abstract

Genetic testing for breast cancer predisposition has been available in the clinical practice for more than a decade. How the result of genetic testing affects the psychological well-being of the individuals is an under-researched area in many populations. Follow-up analysis of psychological well-being via HADS scale was performed in 364 individuals at 3 months and 1 year after the disclosure of BRCA1/2 genetic result. We analyzed potential predictors for pathological anxiety and variables associated to the variation of HADS scores over time. At pre-test only 16% and 4% of individuals presented symptoms of anxiety and depression, respectively. Having a prior diagnosis of cancer and presenting a pathological HADS-A score at the baseline were associated with clinically significant anxiety scores at one year, but the genetic test result was not. Thus, BRCA genetic testing does not influence short and long term anxiety and depression levels among those identified as mutation carriers. It is our task to demystify the allegedly negative impact of BRCA testing on psychological well being to increase the uptake of genetic testing and benefit those who are at high risk of developing breast, ovarian and prostate cancer.

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.…”

“…Anxiety may spur interest in genetic testing with the hope that, once testing is complete, a certain amount of uncertainty is addressed and anxiety alleviated. 31,32,35,37 Depression can cause hopelessness about being able to complete or even pursue genetic counseling and testing services. 50,51 In cases of severe psychiatric symptoms, a referral for a comprehensive mental health evaluation by a psychiatrist may be necessary.…”

“…31 Anxiety was more prominent in this population, in which 16% of women presented with anxiety and only 4% presented with symptoms of depression. 32 However, a Swedish study demonstrated that women who were tested for breast cancer genes did not have higher levels of anxiety compared with general population controls and had significantly lower levels of depression. 33 It has been reported that anxiety actually increases the uptake of genetic testing.…”

“…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.…”