Literature DB >> 35819584

Experiences of individuals with a variant of uncertain significance on genetic testing for hereditary cancer risks: a mixed method systematic review.

Danielle Gould1, Rachel Walker2, Grace Makari-Judson3, Memnun Seven2.   

Abstract

The expansion of Multi-Gene Panel Testing (MGPT) has led to increased detection of variants of uncertain significance (VUS) among individuals with personal or family history of cancer. However, having a VUS result can impact on emotional and psychological wellbeing and cause challenges for non-geneticist healthcare providers. The purpose of this mixed methods systematic review was to examine what is currently known about the experiences of individuals with a VUS on genetic testing for inherited cancer susceptibility. The initial search was conducted in June 2020 using PUBMED, CINAHL, Web of Science, and PsychInfo according to the Joanna Briggs methodology for systematic reviews. A total of 18 studies met the inclusion criteria. Studies included in this review identified a range of emotional reactions to a VUS result, a general lack of understanding of a VUS result and its implications, frustration with a lack of healthcare provider knowledge, and a need for clear communication with healthcare providers. This review identified critical gaps in current knowledge to guide genetic counseling praxis, specifically in the knowledge of communication patterns and methods of improving communication with healthcare providers and family members and preferred risk management strategies. This will help to improve the counseling process and the management of care during and after genetic testing.
© 2022. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.

Entities:  

Keywords:  Genetic testing; Hereditary cancer; Literature review; Variant of uncertain significance (VUS)

Year:  2022        PMID: 35819584      PMCID: PMC9314499          DOI: 10.1007/s12687-022-00600-4

Source DB:  PubMed          Journal:  J Community Genet        ISSN: 1868-310X


  35 in total

1.  The counsellees' view of an unclassified variant in BRCA1/2: recall, interpretation, and impact on life.

Authors:  Joël Vos; Wilma Otten; Christi van Asperen; Anna Jansen; Fred Menko; Aad Tibben
Journal:  Psychooncology       Date:  2008-08       Impact factor: 3.894

2.  Update on multi-gene panel testing and communication of genetic test results.

Authors:  Sonya Reid; Tuya Pal
Journal:  Breast J       Date:  2020-07-08       Impact factor: 2.431

3.  Clinical testing with a panel of 25 genes associated with increased cancer risk results in a significant increase in clinically significant findings across a broad range of cancer histories.

Authors:  Eric T Rosenthal; Ryan Bernhisel; Krystal Brown; John Kidd; Susan Manley
Journal:  Cancer Genet       Date:  2017-09-25

4.  Patients' Medical and Psychosocial Experiences After Detection of a CDH1 Variant With Multigene Panel Testing.

Authors:  Jada G Hamilton; Jessica M Long; Amanda C Brandt; Jamie Brower; Heather Symecko; Erin E Salo-Mullen; Stephanie N Christian; Tricia Harstad; Fergus J Couch; Judy E Garber; Kenneth Offit; Mark E Robson; Susan M Domchek
Journal:  JCO Precis Oncol       Date:  2019-03-28

5.  Lynch Syndrome Limbo: Patient Understanding of Variants of Uncertain Significance.

Authors:  Ilana Solomon; Elizabeth Harrington; Gillian Hooker; Lori Erby; Jennifer Axilbund; Heather Hampel; Kara Semotiuk; Amie Blanco; William M P Klein; Francis Giardiello; Lori Leonard
Journal:  J Genet Couns       Date:  2017-01-26       Impact factor: 2.537

6.  Testing for hereditary breast and ovarian cancer in the southeastern United States.

Authors:  A Miron; J M Schildkraut; B K Rimer; E P Winer; C Sugg Skinner; P A Futreal; D Culler; B Calingaert; S Clark; P Kelly Marcom; J D Iglehart
Journal:  Ann Surg       Date:  2000-05       Impact factor: 12.969

Review 7.  Cancer Genomics: Diversity and Disparity Across Ethnicity and Geography.

Authors:  Daniel S W Tan; Tony S K Mok; Timothy R Rebbeck
Journal:  J Clin Oncol       Date:  2015-11-17       Impact factor: 44.544

8.  Variants of unknown significance in BRCA testing: impact on risk perception, worry, prevention and counseling.

Authors:  S Richter; I Haroun; T C Graham; A Eisen; A Kiss; E Warner
Journal:  Ann Oncol       Date:  2013-11       Impact factor: 32.976

9.  Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology.

Authors:  Mary B Daly; Tuya Pal; Michael P Berry; Saundra S Buys; Patricia Dickson; Susan M Domchek; Ahmed Elkhanany; Susan Friedman; Michael Goggins; Mollie L Hutton; Beth Y Karlan; Seema Khan; Catherine Klein; Wendy Kohlmann; Allison W Kurian; Christine Laronga; Jennifer K Litton; Julie S Mak; Carolyn S Menendez; Sofia D Merajver; Barbara S Norquist; Kenneth Offit; Holly J Pederson; Gwen Reiser; Leigha Senter-Jamieson; Kristen Mahoney Shannon; Rebecca Shatsky; Kala Visvanathan; Jeffrey N Weitzel; Myra J Wick; Kari B Wisinski; Matthew B Yurgelun; Susan D Darlow; Mary A Dwyer
Journal:  J Natl Compr Canc Netw       Date:  2021-01-06       Impact factor: 11.908

10.  Comparison of risk management strategies between women testing positive for a BRCA variant of unknown significance and women with known BRCA deleterious mutations.

Authors:  Christine Garcia; Liisa Lyon; Ramey D Littell; C Bethan Powell
Journal:  Genet Med       Date:  2014-05-22       Impact factor: 8.822

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