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
ARTICLE HIGHLIGHTS
Research background

The majority of BRCA1/2 genetic test consists of an inconclusive result, which produces a complex situation, as it means that a deleterious mutation is neither identified nor definitively excluded.

Research motivation

Studies specifically focusing on the psychological adjustment of people with inconclusive results are scarce and a systematic review on this topic is missing.

Research objectives

The principal purpose of this review was to examine short-, intermediate-, and long-term psychological outcomes of receiving an uninformative BRCA1/2 test result, with regard to distress (both general and genetic testing-specific), anxiety, and depressive levels. A further purpose was to highlight risk and protective factors affecting psychological adjustment in individuals with an inconclusive genetic testing result, also considering differences associated with being or not affected by a cancer diagnosis.

Research methods

The guidelines of Preferred Reporting Items for Systematic Review and Meta-Analyses were followed in the current review. A comprehensive literature search in PubMed, PsychInfo, and Cochrane Central Register of Controlled Trials was carried out. Search results referred to the last 21 years (1999-2020).

Research 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.

Research conclusions

This review highlights that individuals who receive an inconclusive result are a subgroup of patients who need educational programs and more pre-test information to better understand the meaning of their test in order to make adequate decisions about surveillance and prophylactic options.

Research perspectives

Overall, the current review highlights the importance to address two main issues in this field: From a research perspective, it is recommended the development of tools more sensible to detect the psychological outcomes of inconclusive BRCA1/2 genetic test results; from a clinical perspective, health professionals and genetic counsellors should provide more psychoeducational support to this subgroup of patients about the meaning and the management of the uncertainty associated with their condition.