Abstract
Purpose
The primary aim of the present study was to conduct a systematic review of short-, intermediate- and long-term psychological effects, such as anxiety, depression and distress, on individuals undergoing genetic testing to determine BRCA1 and BRCA2 gene mutation. The different instruments used for the measurement of each construct were reported. In addition, risk and protective factors associated with psychological outcomes of genetic tests were explored.
Methods
Bibliographic databases were searched for studies published over the period 1998–2018. Using the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) method, 21 articles were selected for the current review.
Results
Overall, the collected data revealed rather diverse results, although most studies reported higher levels of distress, anxiety and depression in carriers, as compared to non-carriers. The two genders were not equally represented, with men constituting only 6% of the sample. Risk factors and protective factors that may influence psychological outcomes and adjustment to genetic tests are highlighted and discussed in this review.
Conclusions
The increased risk of developing cancer associated with positive genetic testing results may be experienced as traumatic by many patients, although not all individuals with positive genetic testing results will experience increased distress. Hence, future studies should consider specific risk factors in order to select those who are more likely to be in need of psychological support. Finally, it is necessary to increase the number of male samples to better understand the male experience related to genetic testing outcomes.
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Notes
The impact of decision to undergo (or not undergo) prophylactic surgery on post-testing distress, anxiety and/or depression has been analysed only in three studies (Borreani et al. 2014; Metcalfe et al. 2012; Claes et al. 2005) with inconsistent results. Borreani found that women who undergo prophylactic surgery have higher anxiety than women who decide not to undergo; Metcalfe (2012) found exactly the opposite, and Claes did not observe differences between the two groups.
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Lombardi, L., Bramanti, S.M., Babore, A. et al. Psychological aspects, risk and protective factors related to BRCA genetic testing: a review of the literature. Support Care Cancer 27, 3647–3656 (2019). https://doi.org/10.1007/s00520-019-04918-7
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DOI: https://doi.org/10.1007/s00520-019-04918-7