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

PurposeGenomic 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. MethodsWe developed a thirty-item survey 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. ResultsSurvey responders (n=87) are predominantly female (78%), age 40 or less (64%), hold advanced degrees (92%), and report four or more 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. They note that resources and recognition from professional organizations are currently lacking. ConclusionsVariant Scientists are a group of diverse genetics professionals that are highly educated and perform a variety of complex tasks within a clinical genomics laboratory.