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

Vos, Joël; Otten, W.; Asperen, Christi J. van; Jansen, Anne M.L.; Menko, Fred H.; Tibben, Aad

doi:10.1002/pon.1311

Cited by 116 publications

(142 citation statements)

References 56 publications

(69 reference statements)

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“…Interestingly, Whitmarsh et al (2007) revealed that families view genetic diagnoses in both a positive and/or negative light (often simultaneously), and parents were open to the uncertainties that come with these diagnoses (Whitmarsh et al 2007). There have also been studies to further understand parental perceptions of Bunknown^genetic results by assessing the impact of indeterminate newborn screening results and VUS genetics results in the cancer realm (Aatre and Day 2011;Ardern-Jones et al 2010;O'Neill et al 2009;Vos et al 2008). These studies support an underlying theme: diagnostic uncertainty is an ongoing learning process.…”

Section: Introductionmentioning

confidence: 99%

Variants of unknown significance on chromosomal microarray analysis: parental perspectives

et al. 2015

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Chromosomal microarray is the recommended first-tier genetic test when a child presents with idiopathic developmental delay (DD), intellectual disability (ID), and/ or autism spectrum disorder (ASD). Microarray may discover variants of unknown clinical significance (VUS) and been suggested to cause parental stress and anxiety. A retrospective, mixed methods study investigated parental perceptions of chromosomal microarray results that contain VUS. Surveys were sent to parents of children with DD/ID/ASD following a VUS result to seek information regarding parental understanding of the result, perceived value, and perceptions of child vulnerability and parental stress. Parents reported that chromosomal microarray was important for understanding their child's diagnosis and they were satisfied with the information. A majority of parents reported high confidence in their ability to explain a VUS result to others. Of the parents who reported they received support, many reported that the support was from a genetic counselor. Based on these results, VUS results are important to parents of children with DD/ID/ ASD and genetic counseling regarding VUS results contributes positively to both parental understanding and support.

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Section: Introductionmentioning

confidence: 99%

Variants of unknown significance on chromosomal microarray analysis: parental perspectives

et al. 2015

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“…Some individuals testing negative for adenomatous polyposis coli mutations predisposing to FAP refuse to be reassured by their negative result and do not believe they are thereby freed from the family curse of early, increased predisposition to colon cancer [5]. We have a convincing illustration in the Vos et al study [6] that contradictory ideas co-exist among women receiving results showing a variant of uncertain significance. In that study,…”

mentioning

confidence: 74%

“…We have a convincing illustration in the Vos et al study [6] that contradictory ideas co-exist among women receiving results showing a variant of uncertain significance. In that study, many women with such results had two independent recollections, 'a factual recollection of an uncertain result and a subjective interpretation that implies a genetic predisposition'.…”

mentioning

confidence: 99%

Cancer genetic testing: current and emerging issues

Patenaude

Julian‐Reynier

2008

Psycho-Oncology

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This special issue on 'Genetic Testing and Psychosocial Research' is appearing a little more than a decade after the first studies on psychosocial aspects of cancer genetic testing were published in the professional literature. The continuing excitement and the growing breadth and depth of this new field of study are reflected in the fact that the call for papers for the current special issue yielded more submissions (from nine countries) than any previous Psycho-Oncology special issue. As medicine (and especially oncology) becomes increasingly intertwined with genetic advances, and as the number of people undergoing genetic testing increases, it becomes all the more important that we understand the human factors influencing uptake of genetic tests, adherence to regimens of screening or surveillance recommended to mutation carriers and high-risk individuals, and issues of individual, family, and community impact of genetic technologies and genetic knowledge.Our special issue, like the field as a whole, has a preponderance of articles focusing on hereditary breast/ovarian cancer (HBOC). However, the papers in this issue report on genetic testing impact for a wide range of conditions from one of the earliest types of cancer genetic testing, p53 testing for members of Li-Fraumeni Syndrome families, to the first report of genetic testing for familial melanoma. Psychosocial aspects of both hereditary non-polyposis colon cancer (HNPCC) and familial adenomatous polyposis (FAP) are reported. Some articles focus on issues that have been of interest since the beginning of studies in this field, such as measurement of distress and cancer worry for those approaching and adapting to genetic testing disclosure. Several focus on the complex issues related to family communication of genetic information, evoking new dilemmas such as the transmission of such information within families after the tested family member had died. Others deal with emerging issues in counseling, such as the understanding of inconclusive test results showing an unclassified variant. Papers are also included that are related to optimizing the support of patients with specific interventions, potential or actual, which may reduce the emotional burdens of living with hereditary cancer risk in a genetic age.These papers reveal much of what we have learned and are learning about how cancer genetic testing changes the lives of those to whom it is provided. The strong hold of psychological factors on the actions of individuals in the face of scientific information provided through high-quality genetic counseling and testing remains striking. Despite being told by medical professionals of the importance of informing relatives about the presence of a deleterious familial cancer-predisposing mutation, it can take years before such information is conveyed by the tested individuals to some sisters, brothers, adult children, stepchildren, or parents due to psychological hesitancies that take precedence over motivations to altruistically inform [1,2]. Gender also impa...

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“…12-15 Such misunderstandings may affect medical decisions, such as prophylactic surgery after disclosure of unclassified variants. 16 Moreover, sound terminology is sine qua non for the unrestrained scientific development and dissemination of genetic knowledge, especially in the light of the persistent increase of the number of articles on NPDTRs.Words are important instruments for the genetic counselor, whose main task is transmitting information about inheritance, DNA-test results, and possible management options. The specific wording may influence how patients and other professionals understand, interpret, memorize, and attach consequences to the result.…”

mentioning

confidence: 99%

“…[12][13][14][15] Such misunderstandings may affect medical decisions, such as prophylactic surgery after disclosure of unclassified variants. 16 Moreover, sound terminology is sine qua non for the unrestrained scientific development and dissemination of genetic knowledge, especially in the light of the persistent increase of the number of articles on NPDTRs.…”

mentioning

confidence: 99%

Disentangling the Babylonian speech confusion in genetic counseling: An analysis of the reliability and validity of the nomenclature for BRCA1/2 DNA-test results other than pathogenic

Vos

Asperen

Wijnen

et al. 2009

Genetics in Medicine

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Purpose: Effective communication of DNA-test results requires a sound terminology. However, the variety of terms in literature for DNA-test results other than pathogenic, may create inconsistencies between professionals, and misunderstanding in patients. Therefore, we conducted a theoretical and empirical analysis of the terms most frequently used in articles between 2002 and 2007 for BRCA 1/2-test results other than pathogenic.1 Design: We analyzed the content validity of the no-pathogenic DNA-test result-terms by comparing the literal and intended meaning of the terms and by examining their clarity and the inclusion of all relevant information. We analyzed the reliability of the terms by measuring the strength of association between terms and their meanings and the consistency among different authors over time. ecause more and more genes are being identified, several guidelines have been developed to standardize the naming and symbolization of genes, changes in genes, and protein sequences. Guidelines for human gene nomenclature were first published in 1979 and were later updated. 1 Several suggestions for further standardization have been made. 2-5 However, these guidelines only focused on naming changes in DNA and protein sequences. No guidelines have been developed for the communication of no-pathogenic DNA-test results (NPDTRs), i.e., when suspected pathogenic changes are not detected in mutation analysis in individual patients. Should we communicate such findings to patients as "negative," "no-pathogenic," or "uninformative"?These no-pathogenic DNA-test results (NPDTRs) are frequently found. For example, pathogenic mutations in the BRCA1 or BRCA2 genes for hereditary breast and ovarian cancer are only found in about 10% of tested probands from breast cancer families. In about 80% of all tested probands, no BRCA1/2 mutation is identified. In the remaining 10%, a BRCA1/2 variant, often a missense mutation, is detected for which the clinical significance regarding cancer risks is not known; future research may show this variant to be a diseasecausing mutation or a benign polymorphism.When a pathogenic BRCA1 mutation is found, lifetime cancer risks of 65% to 85% for breast and 39% to 69% for ovarian cancer are communicated to the counselee; when a pathogenic BRCA2 mutation is found, breast cancer risks of 45% to 84% and ovarian cancer risks of 11% to 27% are communicated. 6 -10 On the basis of these risks, possible risk management options are discussed, such as surveillance and prophylactic surgery of breasts and/or ovaries. However, in the NPDTR, decisions about surveillance and prophylactic surgery and DNA testing in relatives are based on the family pedigree and cancer history. 11 The communication of NPDTRs is often a difficult process because of the involvement of several groups of people. Molecular geneticists have to interpret DNA-test results correctly and convey these to clinicians. Subsequently, clinicians have to translate DNA-test results understandably to patients who have to recall DNA-tests ou...

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

Cited by 116 publications

References 56 publications

Variants of unknown significance on chromosomal microarray analysis: parental perspectives

Variants of unknown significance on chromosomal microarray analysis: parental perspectives

Cancer genetic testing: current and emerging issues

Disentangling the Babylonian speech confusion in genetic counseling: An analysis of the reliability and validity of the nomenclature for BRCA1/2 DNA-test results other than pathogenic

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