Abstract
As applications of genomic sequencing have expanded, offering genetic counseling support to all patients is arguably no longer practical. Additionally, whether individuals desire and value genetic counseling services for genomic screening is unclear. We offered elective genetic counseling to 5110 individuals prior to undergoing sequencing and 2310 participants who received neutral results to assess demand. A total of 0.2% of the study participants accessed genetic counseling services prior to sequencing, and 0.3% reached out after receiving neutral results. We later conducted 50 interviews with participants to understand why they did not access these services. Many interviewees did not recall the availability of genetic counseling and were unfamiliar with the profession. Interviewees described not needing counseling before sequencing because they understood the study and felt that they could cope with any result. Counseling was considered equally unnecessary after learning neutral results. Although the participants had questions about their results, they did not feel that speaking with a genetic counselor would be helpful. Genomic screening efforts that employ opt-in models of genetic counseling may need to clarify the potential value of genetic counseling support from the outset and feature genetic counseling services more prominently in program materials.
Highlights
The rapid expansion of genomic sequencing has required adaptations to traditional models of in-person genetic counseling to allow genetic specialists to focus their time on the most complex cases [1,2,3]
Having observed what we considered to be a significant underutilization of genetic counseling services in the context of the Return of Actionable Variants Empirical (RAVE) study, we sought to characterize this phenomenon more fully
We identified themes related to understandings of the RAVE study, understandings of the genetic counseling profession, and the perceived value of genetic counseling services
Summary
The rapid expansion of genomic sequencing has required adaptations to traditional models of in-person genetic counseling to allow genetic specialists to focus their time on the most complex cases [1,2,3]. To make the provision of genetic counseling services for genomic sequencing feasible, The Mayo Clinic’s Return of Actionable Variants Empirical (RAVE) study offered complimentary elective genetic counseling prior to sequencing and upon receiving neutral results (i.e., no variants of clinical significance), and provided in-person genetic counseling to individuals who received positive sequencing results [9]. Making genetic counseling optional allowed us to assess the demand for these services at two distinct time points: prior to undergoing sequencing and after receiving neutral results. We were surprised how few participants (0.2%) took advantage of this free resource prior to undergoing sequencing [9] and, as we report in this manuscript, how few participants accessed these resources after receiving their results
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