Survey of Demographics, Training, Duties, and Professional Development for Variant Scientists in Genomic Medicine

Genomic testing has proven utility in disease diagnostics, guiding clinical management and improving outcomes. Use of high-throughput sequencing by clinical laboratories has generated opportunities and challenges in data analysis, resulting in the emergence of a laboratory role termed variant scientist. The aim of this study was to characterize this laboratory role. A 30-item survey was developed to collect information describing the current demographic landscape, salary ranges, work environments, training options, and professional development of variant scientists. The survey was disseminated to individuals conducting variant analysis in the United States from November 6, 2023, to March 15, 2024. Survey responders (n = 87) were predominantly female (78%), aged ≤40 years (64%), hold advanced degrees (38% master's, 47% doctoral), and report ≥4 years of experience (75%). Responders report involvement in a diverse set of laboratory tasks and received relevant training on the job (78%). This workforce is satisfied with their career path (70%) and reports adequate support from employers, but perceives that resources and recognition from professional organizations are currently lacking. Characterization of this workforce will be of interest to individuals working as variant scientists, individuals interested in careers in variant science, and laboratory directors seeking assistance for effectively maintaining and efficiently growing clinical laboratory operations.