Published online May 19, 2021. doi: 10.5498/wjp.v11.i5.189
Peer-review started: February 16, 2021
First decision: March 16, 2021
Revised: March 28, 2021
Accepted: April 21, 2021
Article in press: April 21, 2021
Published online: May 19, 2021
An inconclusive result from BRCA1/2 genetic testing indicates that a genetic variant of uncertain significance is detected. This case constitutes the majority of genetic test results, but studies specifically addressing the psychological adjustment of people with inconclusive results are scarce.
To examine psychological outcomes of receiving an uninformative BRCA1/2 test result.
PubMed, PsychInfo, and Cochrane Central Register of Controlled Trials were screened for studies focusing on distress, anxiety, and depression levels in individuals with inconclusive genetic test results. This review is based on the Preferred Reporting Items for Systematic Reviews and Meta-Analyses method.
Studies on psychological outcomes of inconclusive BRCA1/2 focused on general and specific distress, anxiety, and depression. Overall, they produced mixed results. These inconsistent findings are probably due to the uncertainty caused by this type of result, that may also influence the decisions of individuals about surveillance and prophylactic options, reducing their compliance. In addition, this review highlights specific risk and protective factors that affect psychological adjustment in individuals with an inconclusive genetic testing result.
Individuals with inconclusive genetic test results need specific educational programs and support to better understand the meaning of their results in order to be able to make decisions about surveillance and prophylactic options.
Core Tip: Undergoing BRCA1/2 genetic testing can produce a significant psycho-social impact. The possible test results are positive (increased risk of developing cancer), negative (the same probability of developing cancer as the general population), or inconclusive. This last outcome produces a more complex situation, as it means that a deleterious mutation is neither identified nor definitively excluded. Though the inconclusive case constitutes most genetic test results, studies specifically addressing psychological adjustment of people with such a result are scarce. The current review aims to address this gap, highlighting psychological outcomes following this kind of result and highlighting specific risk and protective factors.