Systematic Reviews
Copyright ©The Author(s) 2021. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Psychiatr. May 19, 2021; 11(5): 189-200
Published online May 19, 2021. doi: 10.5498/wjp.v11.i5.189
Uncertainty following an inconclusive result from the BRCA1/2 genetic test: A review about psychological outcomes
Sonia Monique Bramanti, Carmen Trumello, Lucia Lombardi, Alessandra Cavallo, Liborio Stuppia, Ivana Antonucci, Alessandra Babore
Sonia Monique Bramanti, Carmen Trumello, Lucia Lombardi, Alessandra Cavallo, Liborio Stuppia, Ivana Antonucci, Alessandra Babore, Department of Psychological, Health and Territorial Sciences, School of Medicine and Health Sciences, University “G. d’Annunzio”, Chieti 66100, Italy
Author contributions: Bramanti SM, Trumello C, Lombardi L, Cavallo A, Stuppia L, Antonucci I and Babore A conceived the study; Bramanti SM and Cavallo A carried out the literature searches and extracted the data; Babore A, Trumello C and Bramanti SM assessed the study quality and wrote the manuscript; Lombardi L, Stuppia L and Antonucci I revised the manuscript.
Conflict-of-interest statement: All authors declare that they have no conflict of interest.
PRISMA 2009 Checklist statement: The authors have read the PRISMA 2009 Checklist, and the manuscript was prepared and revised according to the PRISMA 2009 Checklist.
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Alessandra Babore, PsyD, Associate Professor, Department of Psychological, Health and Territorial Sciences, School of Medicine and Health Sciences, University “G. d’Annunzio”, Via dei Vestini, Chieti 66100, Italy. a.babore@unich.it
Received: February 16, 2021
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
Abstract
BACKGROUND

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.

AIM

To examine psychological outcomes of receiving an uninformative BRCA1/2 test result.

METHODS

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.

RESULTS

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.

CONCLUSION

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.

Keywords: Genetic testing, BRCA1/2 mutation, Inconclusive result, Psychological distress, Depression, Anxiety, Review

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.