ArticleGenetics in medicine : official journal of the American College of Medical Genetics2015
A preliminary investigation of genetic counselors' information needs when receiving a variant of uncertain significance result: a mixed methods study.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
13 citing papers in PubMed.
- Investigating the frequency of unreported cases and laboratory correspondence practices for variants of uncertain significance in pediatric epilepsy.Epilepsia open · 2025Article
- Uncertainty in healthcare and health decision making: Five methodological and conceptual research recommendations from an interdisciplinary team.Journal of behavioral medicine · 2023Review
- Genetic Counseling in Kidney Disease: A Perspective.Kidney medicine · 2023Article
- Article
- Experiences of patients seeking to participate in variant of uncertain significance reclassification research.Journal of community genetics · 2019Article
- A Commentary on Opportunities for the Genetic Counseling Profession through Genomic Variant Interpretation: Reflections from an Ex-Lab Rat.Journal of genetic counseling · 2018Article
- From the laboratory to the clinic: sharing BRCA VUS reclassification tools with practicing genetics professionals.Journal of community genetics · 2018Article
- Ability of Patients to Distinguish Among Cardiac Genomic Variant Subclassifications.Circulation. Genomic and precision medicine · 2018Article
- Lynch Syndrome Limbo: Patient Understanding of Variants of Uncertain Significance.Journal of genetic counseling · 2017Article
- User-centered design of multi-gene sequencing panel reports for clinicians.Journal of biomedical informatics · 2016Article
- New challenges for BRCA testing: a view from the diagnostic laboratory.European journal of human genetics : EJHG · 2016Review
- Providing Access to Genomic Variant Knowledge in a Healthcare Setting: A Vision for the ClinGen Electronic Health Records Workgroup.Clinical pharmacology and therapeutics · 2016Article
- Genetic counselors' practices and confidence regarding variant of uncertain significance results and reclassification from BRCA testing.Clinical genetics · 2015Article
Corrections and comments
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Authors and funding
5 authors.
Funding
Abstract
purposeThe aim of this study was to explore genetic counselors' information preferences on reports of variant of uncertain significance (VUS) results from cancer genetic testing.
methodsThis mixed methods report (quantitative and qualitative approaches) utilized a survey of genetic counselors containing closed- and open-ended questions to explore genetic counselors' information needs and perceptions of the industry's current information sharing practices. Descriptive statistics were calculated for responses to the closed-ended questions, and thematic analysis guided the interpretation of the open-ended questions.
resultsOf the 267 participants (28.6% response rate), the majority indicated a perceived lack of information on VUS laboratory reports, were concerned about the perceived practice of withholding information, and stated the information they wanted to see. Although most did not indicate how additional information would be used, some reported they would provide information directly to patients, and others reported that the information would be used to contextualize the VUS result when counseling patients.
conclusionThis analysis identified information that genetic counselors believe is needed in VUS reports, indicating what they believe are best practices in lieu of guidelines for laboratories currently providing genetic testing services. Future studies should explore how genetic counselors use additional information contained in VUS reports.Genet Med 17 9, 739-746.
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