Genetic Counseling

School of Health and Human Sciences

An Updated Assessment of Genetic Counselor Perspectives and Practices Regarding the Advancements of Expanded Carrier Screening


Capstone Project Committee: Lauren Johnson, MD, Dana Neitzel, MS, CGC, Suzanne Seitz, MS, MPA, CGC, Randi Culp Stewart, MS, CGC


As expanded carrier screening (ECS) becomes increasingly integrated into reproductive risk assessment, establishing a standardized approach for the inclusion/exclusion criteria and practice of offering ECS is essential. This mixed methods study aimed to assess current perspectives and practices for panel inclusion criteria and practices related to ECS of reproductive genetic counselors (RGCs) and non-reproductive genetic counselors (NRGCs). The survey incorporated questions from a survey by Lazarin et al. (2015) as well as unique open-ended questions. Participants were recruited through the NSGC listserv. Our survey was subdivided into (1) demographics, (2) inclusion/exclusion criteria for conditions on ECS panels, (3) role of GCs in counseling about ECS, and (4) criteria for offering ECS to patients. Data analysis included descriptive statistics using the Analysis ToolPak software on Microsoft Excel and thematic analysis. Completed responses from 65 RGCs and 34 NRGCs were used for analysis. GCs with current or prior non-reproductive work experience (Mixed GCs) were significantly more likely to include disorders with any degree of mental impairment on an ECS panel (p=0.029). Mixed GCs’ inclusion criteria for any degree of physical impairment and prevalence trended towards significance. Respondents were more likely to include disorders with pediatric onset (70%), any degree of physical (63%) or mental (67%) impairment and any degree of prevalence. Results of this study provide an updated assessment of GC’s current perspectives and practices with ECS as our survey was distributed approximately nine years after the clinical implementation of ECS, and seven years after Lazarin et al.’s 2012 survey. The majority of respondent inclusion/exclusion criteria for ECS panels and for offering ECS to patients was based upon patient-focused preferences and considerations. The sample size and lack of demographic diversity prevents generalization of study findings. Additional studies can further explore why GCs in different fields might include certain conditions on ECS panels.


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