Heather Zierhut

Research related to the practice of genetic counseling has historically been accomplished through student projects, small private grants, or as a part of a larger research study. Yet, recent initiatives supported by the National Society of Genetic Counselors and the National Human Genome Research Institute have recognized and promoted the need for additional genetic counseling research funding and training. In this study, we aimed to characterize awards from the United States' National Institutes of Health (NIH) over the past 10 years that support research related to genetic counseling. A search of the NIH RePORTER database conducted on April 25, 2022, using terms broadly related to genetic counseling, identified 3993 awards from fiscal years 2011 to 2022. After deduplication, 1231 grants were reviewed for screening. The final dataset included 43 awards of various types with the majority being research or R series grants [R01 ( n = 17), R21 ( n = 7)]. The remaining awards were Cooperative Agreements (U01, n = 6), intramural (Z‐grants, n = 5), Center Core (P30, n = 2), Specialized Center (P50, n = 1), Career Development Award (K01, n = 1), Other Transactions (OT2, n = 1), Resource Program (G13, n = 1), and Research Training and Fellowship (T32, n = 1). Most grants were awarded between 2019 and 2022 ( n = 24, 55.8%). The majority of awards were categorized as studies that included a comparison of different genetic counseling models ( n = 23), outcomes of implementing genetic counseling ( n = 11), core resources for genetic counselors ( n = 5), and genetic counseling training programs ( n = 4). Thirteen of the awards (30.2%) had a specific aim/goal/focus on underserved or underrepresented populations. The topics were predominantly related to cancer ( n = 26). Nine awards were led or co‐led by a genetic counselor (20.9%). Despite significant growth in genetic counseling research support from US‐based funders over the past 3 years, major gaps related to funding exist, including that most award recipients are not genetic counselors.

Genetic counseling (GC) relies on communication to help people understand and adapt to genetic contributions of disease, and there is need for a practical and reliable method of comprehensively documenting GC communication skills without intensive coding. To this end, we created a novel process measure called the Genetic Counseling Skills Checklist (GCSC), utilizing previously validated measures, communication/counseling frameworks, and prior research findings. A multistage iterative process was used to develop, evaluate, and modify the GCSC to improve its clarity, usability, and content validity. To assess interrater reliability, randomly assigned, untrained individuals (i.e., coders) used the GCSC version 3 to code multiple simulated GC sessions. Average measures intraclass correlation coefficients (ICCs) were calculated for each of the 8 GCSC process categories using one‐way, random effects models. After relatively minor modifications to the GCSC, two pairs of experienced coders used GCSC version 4 to independently code additional GC sessions and Cohen's Kappa coefficients ( κ ) were calculated to assess interrater reliability for each process category. The GCSC contains five to eight items within each category and demonstrates good content validity given its ability to capture nearly all GC skills that genetic counselors reported using in a prior qualitative study. Interrater reliability of GCSC version 3 among coders with limited experience was moderate or good for 6 out of the 8 process categories as evidenced by ICCs ranging from 0.55 to 0.86. Average interrater reliability of GCSC version 4 among one pair of experienced coders was strong for all eight process categories ( κ ranging from 0.82 to 0.94); among the second pair of experienced coders scores were strong for six categories ( κ ranging from 0.80 to 0.87) and moderate for two categories ( κ of 0.77 and 0.78). The results suggest the need for training and experience to assure adequate interrater reliability across GCSC coders. Future work is needed to create a formalized training program for coders, complete a larger study to further validate the measure, and use the GCSC to document variability in skills used across providers and sessions.