Genetic counselors' perceptions of uncertainty in pretest counseling for genomic sequencing: A qualitative study

Abstract

Increased usage of exome and genome sequencing has made uncertainties associated with genomic sequencing methods more prevalent within medicine. Current research focuses on patients' perceptions of uncertainty related to genomic sequencing, but there is limited knowledge of the perspectives of providers. The aim of this study was to explore how professionals in genomics perceive uncertainties involved in genomic sequencing, and if or how this impacts their approach to pretest counseling. We performed 20 semi‐structured interviews with genetic counselors in the United States and Canada who provide pretest genetic counseling for genomic sequencing. Interviews explored participating genetic counselors' views of uncertainty regarding genomic sequencing, how they classify it, how it manifests, and how they manage it during pretest counseling. Thematic analysis showed that genetic counselors acknowledge concepts of uncertainty that map to existing frameworks of uncertainty for genomic sequencing. Genetic counselors also perceived incongruencies between patients' and providers' expectations of genomic sequencing, which prompted them to modify patients' perceptions of uncertainty related to genomic sequencing. All genetic counselors agreed that guidance and strategies for genomic sequencing pretest counseling would be helpful, particularly for novice genetic counselors and non‐genetics providers. These findings highlight the need and potential for conceptual models of uncertainty and uncertainty management strategies to facilitate patient‐centered pretest counseling for genomic sequencing.

Genetic health professionals' experiences returning results from diagnostic genomic sequencing to patients

“…One of the most prominent concepts that emerged from the interviews with GHPs was the importance of managing patient expectations regarding the nature and likelihood of different types of results from GS in the pre‐test counseling session. This finding aligns with results of a similar study conducted in the research setting (Wynn et al, ), and two other studies that focused on GHPs experiences with pre‐test counseling and obtaining informed consent (Bernhardt et al, ; Park et al, ). Our participants viewed management of expectations as essential to prepare patients for the likelihood that a genetic cause for their condition would not be identified.…”

“…While giving patients realistic information about the likelihood of GS identifying the genetic cause is crucial, given the fact that our knowledge is increasing so rapidly in this area it would be important to counsel patients that GS is, in fact, not their ‘last hope’ and that even if they do not identify the genetic cause now, future reanalysis or retesting may find the answer. While genetic counselors have highlighted this as important to cover during the pre‐test counseling process (Park et al, ), it would also be important to address again when returning results.…”

“…Although many GHPs felt that patients understand the concept of VUS, others found explaining what a VUS is, and the uncertainty associated with the variant, to be one of the most challenging aspects of returning results from GS to patients. Previous research with genetic counselors has also suggested that VUS are a source of uncertainty that they find challenging to discuss with patients in pre‐test counseling (Park et al, ). Again, although uncertainty is not a new concept in the field of genetic counseling, the scale of the testing is increasing the chance of identifying VUS, making it more important that patients are prepared for this as a potential outcome of the test (Park et al, ).…”

“…Previous research with genetic counselors has also suggested that VUS are a source of uncertainty that they find challenging to discuss with patients in pre‐test counseling (Park et al, ). Again, although uncertainty is not a new concept in the field of genetic counseling, the scale of the testing is increasing the chance of identifying VUS, making it more important that patients are prepared for this as a potential outcome of the test (Park et al, ). While participants described different strategies for explaining VUS, such as various analogies, a proportion found success in focusing on what identification of the variant means for the patient and any next steps for further variant classification (e.g., obtaining samples from other family members or engaging with research laboratories for functional studies).…”

“…The fact that laboratory practices are inconsistent regarding whether VUS or UF are reported may make it challenging for GHPs who use multiple laboratories to keep track of which results will end up on the report (Vears, Sénécal, & Borry, ; Vears, Sénécal, & Borry, ). Park, Zayhowski, Newson, & Ormond () also identified in interviews with genetic counselors that the increased uncertainty associated with exome/genome sequencing compared to standard genetic testing also made the pre‐test counseling process more challenging.…”