Year: 2026
Type: article
Study design: Observational Study
Abstract: BACKGROUND: The integration of genomics into clinical care has created an urgent need for accurate, standardized variant interpretation. Variant Scientists (VSs) play a central role in translating sequencing results into clinically actionable findings, yet formal education and standardized training pathways for this emerging profession are still evolving internationally. This study aimed to describe educational needs of practicing VSs and to develop a structured training program informed by those needs. METHODS: A national survey was distributed to practicing VSs across Israeli clinical genetics centers to assess training background, learning, access to interpretation tools, and professional challenges. Survey findings informed the definition of core competencies and the development of a phased training program by a multidisciplinary working group. RESULTS: Thirty-eight respondents were included. Professional training was mostly acquired through observation of expert analysts (42.1%), followed by hands-on experience (39.5%). Only 18.4% participated in a dedicated VS course. Key challenges included keeping pace with evolving guidelines (55.3%) and copy number variant (CNV) analysis (47.4%). The survey identified substantial variability in training pathways and highlighted priority areas for structured education. Based on these findings, a structured training program was developed, combining theoretical modules, practical training, and assessment via a standardized proficiency test, supported by institutional forums and national meetings. CONCLUSION: This study presents a structured, scalable VS training program informed by a national needs assessment. By aligning the curriculum with identified educational needs, it provides a practical model that may support more standardized VS training and inform similar initiatives in clinical genomics internationally.
Source: BMC Medical Education
Institutions: Clalit Health Services, Tel Aviv University
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $2,990
OpenAlex ID: W7131861540