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

Abstract

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.

Figure 1

Demographics, education, field of study, and work environment of survey responders. A: Age of responders at time of survey. B: Terminal degree held by survey responders; note that one individual reported no college education (no response selected for B.S., M.S., Ph.D., or M.D.). C: Area of focused study; refers to area of study during B.S., M.S., and/or Ph.D. D: Reported work environment.

Figure 2

Professional experience (years of total experience with variant analysis, curation, and interpretation), years in current position, and salary. A: A total of 75% of survey responders possess ≥4 years of variant science experience, while most (58%) have been in their current position <3 years. B: Variant scientists with ≤3 years of experience typically earn <$100,000 per year, whereas those with more experience (≥7 years) often earn >$100,000 annually. Most variant scientists who completed the survey earn $76,000 to $100,000 per year (33%). R² = 0.169.

Figure 3

Assessment of the duties performed by variant scientists. Survey responders are most involved with training initiatives (85% of responders report often/sometimes involved) and data management/data sharing (68%). Survey responders report being least involved with (rarely or never) client interactions (ie, ordering providers, 82%), genetic counseling (92%), and patient care (96%).

Figure 4

Variant scientist training. Seventy-eight percent of survey responders report that they were trained on the job, 11% trained using Clinical Genome (ClinGen) resources, 6% report that they received relevant training as part of a postdoctoral fellowship, and 5% report having attended a formal training program (ie, variant scientist training program). Note that on-the-job training in this context refers specifically to variant analysis knowledge acquired via experiential learning or through an employer-sponsored training program.

Figure 5

Variant scientist support. Ninety-four percent of survey responders feel (strongly agree/agree) that their employer provides the technical resources needed to perform their job, whereas 70% feel their employer provides relevant professional development resources. Thirty-one percent of survey responders feel that professional organizations provide relevant professional development resources to variant scientists, whereas only 11% of responders perceive that professional organizations adequately recognize the role of variant scientist.