Elsevier

Genetics in Medicine

Volume 17, Issue 9, September 2015, Pages 739-746
Genetics in Medicine

Original Research Article
A preliminary investigation of genetic counselors’ information needs when receiving a variant of uncertain significance result: a mixed methods study

https://doi.org/10.1038/gim.2014.185Get rights and content
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Abstract

Purpose

The aim of this study was to explore genetic counselors’ information preferences on reports of variant of uncertain significance (VUS) results from cancer genetic testing.

Methods

This 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.

Results

Of 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.

Conclusion

This 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 Med17 9, 739–746.

Keywords

genetic counseling
genetic testing
hereditary breast and ovarian cancer
information needs
variant of uncertain significance

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