Narrating uncertainty: Variants of uncertain significance (VUS) in clinical exome sequencing

Timmermans, Stefan; Tietbohl, Caroline; Skaperdas, Eleni

doi:10.1057/s41292-016-0020-5

Cited by 58 publications

(68 citation statements)

References 32 publications

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“…Provider’s discussion of the limitations of testing emphasized genetics as an evolving science; they spoke with enthusiasm about the potential future benefits to participants regardless of their current results. Potential future reclassification of VUS results and better future tests excite clinicians by representing ‘a promise of knowledge yet to come’ [40]. Indeed for decades, geneticists have longitudinally followed patients with a likely genetic diagnosis with the hope that in the future, with improved genetic testing and identification of more genetic syndromes, the patient’s precise diagnosis would become clear.…”

Section: Discussionmentioning

confidence: 99%

How Do Providers Discuss the Results of Pediatric Exome Sequencing with Families?

et al. 2017

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Aim This study provides preliminary data on the process and content of returning results from exome sequencing offered to children through one of the Clinical Sequencing Exploratory Research (CSER) projects. Materials & methods We recorded 25 sessions where providers returned diagnostic and secondary sequencing results to families. Data interpretation utilized inductive thematic analysis. Results Typically, providers followed a results report and discussed diagnostic findings using technical genomic and sequencing concepts. We identified four provider processes for returning results: teaching genetic concepts; assessing family response; personalizing findings; and strengthening patient–provider relationships. Conclusion Sessions should reflect family interest in medical management and next steps, and minimize detailed genomic concepts. As the scope and complexity of sequencing increase, the traditional information-laden counseling model requires revision.

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Section: Discussionmentioning

confidence: 99%

How Do Providers Discuss the Results of Pediatric Exome Sequencing with Families?

et al. 2017

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“…Therefore, it is a common event that probabilistic rather than deterministic information is reached. Such findings are obviously stress factors for parents and professionals, as knowledge has brought along increasing uncertainty . For example, Werner‐Lin et al found that couples describe being thrown into a state of crisis, due to the gap between their expectations before testing and their actual confrontation with the test's limitations.…”

Section: Second Stage: Pandora's Pregnancymentioning

confidence: 99%

“…Such findings are obviously stress factors for parents and professionals, as knowledge has brought along increasing uncertainty. 29,30 For example, Werner-Lin et al 17 found that couples describe being thrown into a state of crisis, due to the gap between their expectations before testing and their actual confrontation with the test's limitations. Reactions to uncertain test results were strong, to the point where women described the gained information as "toxic" and regretted having it.…”

Section: Future Parents' Experiencesmentioning

confidence: 99%

Pandora's pregnancy: NIPT, CMA, and genome sequencing—A new era for prenatal genetic testing

2019

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Objectives We delineate in this article a shift from the “traditional” technologies of karyotyping in PND to the current phase of advanced genetic technologies including noninvasive prenatal testing (NIPT), chromosomal microarray analysis (CMA), and whole‐exome sequencing (WES) with their higher detection rate and related abundance of uncertain data. Methods Conceptual analysis based on seminal works that shaped the socioethical discourse surrounding the experiences of parents as well as professionals with prenatal diagnosis in the last 30 years. Results We consider the implications of this new era of PND for patients and health professionals by drawing on previous studies documenting how probability and uncertainty affect informed consent/choice, health risks communication, customer satisfaction and decision making, and parent‐child bonding. Conclusions We argue that these changes move us beyond the idioms and realities of the tentative pregnancy and moral pioneering, to uncertainty, probability‐based counseling, and moral/translational gambling. We conclude by discussing what is needed to maintain hope in the era of Pandora's pregnancy.

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“…According to the current classification in genetics, the clinical significance of these variants may vary: they can be pathogenic, probably pathogenic, of unknown significance, benign, or probably benign. As (22) have pointed out, distinguishing between these categories is a major “interpretive dilemma” for geneticists. The classification of a variant in a given category depends on available data concerning the frequency of the link associating it with a specific disease.…”

Section: Next Generation Sequencingmentioning

confidence: 99%

Big Data Sharing: A Crucial Democratic Issue for Genomic Medicine

Derbez

2018

Front. Public Health

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Narrating uncertainty: Variants of uncertain significance (VUS) in clinical exome sequencing

Cited by 58 publications

References 32 publications

How Do Providers Discuss the Results of Pediatric Exome Sequencing with Families?

How Do Providers Discuss the Results of Pediatric Exome Sequencing with Families?

Pandora's pregnancy: NIPT, CMA, and genome sequencing—A new era for prenatal genetic testing

Big Data Sharing: A Crucial Democratic Issue for Genomic Medicine

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