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

Abstract

PurposeTo 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 the information would be used to contextualize the VUS result when counseling patients.ConclusionThis analysis identified information genetic counselors believe is needed on VUS reports indicating what they believe are best practices in lieu of guidelines for laboratories currently providing genetic testing services, and implies needed guidelines for reporting VUS. Future studies should explore how genetic counselors use additional information contained on VUS reports.

New challenges for BRCA testing: a view from the diagnostic laboratory

“…In a recent survey exploring genetic counsellors' information preferences on VUS laboratory reports, a minority of respondents expressed concerns about awareness of VUS and appropriate medical recommendations among other health-care professionals. 69 The survey also highlighted that the majority of respondents (243/267 (91%)) reported too little information provided on laboratory VUS reports, and that additional information would help contextualise the VUS result for patients. This is supported by a previous survey of breast cancer genetic counselling practices, where only 63% of genetic counsellors felt their patients understood the meaning of a VUS finding.…”

“…70 It should be noted however, that a minority of genetic counsellors believe interpretation of additional information to guide patient medical management could be problematic, as interpretation was the responsibility of the laboratory conducting the test. 69 …”

User-centered design of multi-gene sequencing panel reports for clinicians

“…These studies serve as the groundwork to inform the design of software tools [17,18]. While most of these studies have focused on genetic counselors' information needs, some findings may be generalized to other clinicians.…”

“…Genetic counselors have expertise when reviewing GS reports; therefore, information that they deem necessary should be emphasized when non-genetic expert clinicians are reviewing GS reports. For example, a study surveying genetic counselors showed that there is a perceived lack of information on the classification system for variants of unknown significance (VUS) included in laboratory reports, highlighting a need for improved GS reports to provide transparency [18]. That study also found that genetic counselors wanted more information, such as patient information, in reports to help contextualize VUS results [18].…”

“…For example, a study surveying genetic counselors showed that there is a perceived lack of information on the classification system for variants of unknown significance (VUS) included in laboratory reports, highlighting a need for improved GS reports to provide transparency [18]. That study also found that genetic counselors wanted more information, such as patient information, in reports to help contextualize VUS results [18]. We believe this need for more information about the patient within laboratory reports can be generalized to other types of clinicians in order to make patient-specific recommendations.…”