Duncan, Laura

Abstract Genetic counseling assistants (GCAs) support genetic counselors (GCs) and genetics clinic workflows, but their potential roles in pretest genetic counseling for rare diseases have not been explored. A pilot within the Mayo Clinic Center for Individualized Medicine's Genetic Testing and Counseling Clinic (GTAC), which offers predefined tests for patients with rare disease, explored the impact of GCA pretest education on appointment time and patient questions. After training, GCAs met GTAC patients prior to the GC to provide scripted information on genetics concepts, the visit purpose, and the test including result types and disclosure plans. Data from the pilot and a control group were collected and analyzed using descriptive statistics and two‐sided t ‐tests. Patient cohort characteristics did not differ between the two models. When a GCA provided pretest education, the GC spent an average of 11.2 minutes less with the patient during their session compared to visits completed solely by the GC ( p < 0.0001). Total appointment time was not impacted by GCA education. Questions asked to GCAs were often not within GCA scope to answer (72.7%), and some patients asked repetitive questions to both the GC and GCA (63.2%). Reduction in GC time per patient could lead to increased accessibility by allowing additional patients to be seen in a day. Similar models may support GCA professional development while allowing GCs to remove repetitive education from their genetic counseling sessions, leading to less burnout and/or increased job satisfaction. Impact on administrative workflows, access, revenue, patient satisfaction and outcomes and GC/GCA satisfaction and benefits can continue to be explored when trialing models incorporating GCAs in pretest education roles.

Abstract The 21st Century Cures Act Final Rule (Final Rule) increases patient access to their health records but raises concerns about distress and misunderstanding of automatically released results and documentation. Little is known about genetic counselors' (GCs') experiences with the Final Rule. In Fall 2023, we conducted a cross‐sectional survey of US GCs about the Final Rule's perceived impact on practice and assessed if being the ordering versus non‐ordering provider for genetic testing affected perceptions of Final Rule‐related changes. GCs ( n = 102) reported demographic and workplace characteristics, institutional policy changes, workflow changes, and perceived patient harms and benefits due to the Final Rule. To compare ordering and non‐ordering providers, we conducted Fisher's exact tests for categorical variables and trend tests for ordinal variables. Open‐response questions elicited examples of positive and negative patient impacts, the effects of patient characteristics, and practice changes in response to the Final Rule. Twenty‐seven GCs were ordering providers and 66 were non‐ordering providers. Relative to ordering providers, non‐ordering providers expressed stronger agreement with statements indicating concern about the emotional impact on patients reviewing results or notes without support ( p = 0.002, 33% vs. 51% strongly agree), patients misunderstanding or misinterpreting results ( p = 0.025, 44% vs. 70% strongly agree), and patients contacting the inappropriate party to discuss results ( p = 0.023, 19% vs. 48% strongly agree). Agreement with the statement “patients have more knowledge/context/questions at our disclosure session due to previous results review” also differed by ordering provider status ( p = 0.007). In open responses, GCs expressed concerns about patients' strong emotional reactions, patients misinterpreting results, workflow disruptions, and widening health disparities. Benefits included patients' ability to be reassured, informed, or empowered earlier; ease of sharing health information; more efficient workflow due to the automatic release of results. These results emphasize the importance of clear communication within health systems and between patients and providers.