Refining the activities of genetic assistants: Development of task statements applicable across practice settings.

Although genetic (counseling) assistants (GAs) have been implemented in many institutions, their roles vary widely. Therefore, this study aimed to refine our knowledge of GA tasks across work settings and specialties. Tasks performed by GAs were extracted from peer-reviewed articles, publicly available theses, and job postings, then analyzed using directed content analysis. Briefly, task statements were coded using broad categories from previous studies, with new categories added as emergent. Coded tasks were combined and condensed to produce a final task list, which was reviewed by subject matter experts. Sixty-one task statements were extracted from previous studies and 335 task statements were extracted from job descriptions. Directed content analysis produced a list of 40 unique tasks under 10 categories (8 from original research and 2 from the data). This study design resulted in a refined list of GA tasks that may be applicable across work settings and specialties, which is an essential step towards defining the scope of GA work. Beyond the human resource applications of the refined task list, this work may also benefit genetics services by reducing role overlap, improving efficiencies, improving employee satisfaction, and informing the development/improvement of training and other educational materials.

Insights into genetic assistant practice and the workforce in North America.

Genetic assistant positions are now widely integrated in genetic services to address genetic counselor shortages and ultimately improve efficiency. While over 40% of genetic counselors report working with a genetic assistant ("NSGC Professional Status Survey: Work Environment," 2022), there is limited information about the genetic assistant workforce. The present study surveyed 164 genetic assistants and 139 individuals with experience working with genetic assistants (specifically genetic counselors, residents, geneticists, and administrative staff). Information was collected about genetic assistant demographics, positions, roles and responsibilities, and career paths. The data revealed that the genetic assistant workforce is demographically similar to the genetic counselor workforce and that most genetic assistants intend to pursue a career in genetic counseling. The genetic assistant positions were heterogeneous in terms of the roles and responsibilities assigned, even when separated by work setting. Lastly, participants reported that there were at least 144 genetic assistants across their institutions, a number that has likely grown since the time of the survey. The findings from this study highlight important opportunities for future research and focus, especially development of a scope of practice and competencies for genetic assistants, as well as the potential to use genetic assistant positions as an avenue to improve diversity within the genetic counseling workforce.

Integrating genetic assistants into the workforce: An 18-year productivity analysis and development of a staff mix planning tool.

In recent years, genetic (counseling) assistants have been integrated in the genetics workforce, such that one-third of genetic counselors now report working with a genetic assistant. While several studies showed that adoption of the genetic assistant model leads to an increase in patient volume, the impact of this role substitution has not been studied quantitatively beyond the cancer genetics workforce. This study utilized 18 years of data from a publicly funded genetics clinic with multiple specialties and varying staff mix. Time series regression modeling was applied to describe the evolving impact of genetic assistants on genetic counselor and clinical geneticist productivity (measured as patient volume). The regression models suggest that the integration of genetic assistants led to a sustainable increase in genetic counselor patient volume, while clinical geneticist patient volume was unaffected. Importantly, the models also demonstrated an interaction between the number of genetic counselors and genetic assistants, whereby the impact of adding a genetic counselor was greater as more genetic assistants were employed in the clinic, and vice versa. The main regression model was used to create "ClinMix: A Genetics Staff Mix Planning Tool," an Excel application that allows users to explore how different staffing plans could affect patient volume, by applying the parameters estimated from this data or their own. We hope this report and the ClinMix tool can be employed by the genetics workforce to advocate for further implementation and evaluation of genetic assistant positions. Adoption of the genetic assistant model may provide clinics the support needed to meet increasing service delivery demands and subsequently foster genetic counselor practice at "top of scope."

A novel WFS1 variant associated with isolated congenital cataracts.

Biallelic variants in the WFS1 gene are associated with Wolfram syndrome. However, recent publications document that heterozygous variants can lead to a variety of phenotypes, such as Wolfram-like syndrome or isolated features of Wolfram syndrome. In this case report, we present a male patient with a history of congenital cataracts and subjective complaints of muscle weakness. Clinical assessment demonstrated normal muscle strength, and genomic, biochemical, electrophysiologic, and muscle biopsy studies did not identify a potential cause of the proband's perceived muscle weakness. Whole-exome sequencing identified a novel de novo variant in the WFS1 gene (c.1243G > T), representing one of only several patients in the published literature with isolated congenital cataracts and a heterozygous WFS1 variant. The variety of phenotypes associated with heterozygous variants in WFS1 suggests that this gene should be considered as a cause of both dominant and biallelic/recessive forms of disease. Future research should focus on elucidating the mechanism(s) of disease and variable expressivity in WFS1 in order to improve our ability to provide patients and families with anticipatory guidance about the disease, including appropriate screening and medical interventions.