Variant interpretation training for the genomics era: Learning outcomes to inform professional competencies and...

Genomic medicine is increasingly being integrated into healthcare systems worldwide, requiring a skilled genomic workforce. Variant interpretation (VI) is crucial to genomic testing, yet there are no agreed professional competencies in VI, career pathways are ill-defined for some professions, and there is limited literature on educational needs and programs. We referenced education theory and curricula from nascent local VI training activities to co-develop learning outcomes in VI with content experts that informed scalable continuing education activities, evaluated using longitudinal cross-sectional surveys. We defined 16 learning outcomes in VI covering fundamental genetics and bioinformatics theory and the stages of variant identification, curation, and classification. The education program included options for self-directed online learning or blended learning (online pre-reading plus workshops). Program reach was 951 individuals (49.2% scientists and 27.8% clinicians). At completion, the majority reported increased understanding of learning outcomes (96.1%, 171/178) and increased confidence in the processes of VI (93.3%, 166/178). The majority (91.7%, 231/252) indicated that the learnings would impact their professional role. Our education program was effective at developing entry-level proficiency in VI across different professions. The learning outcomes can inform multiple aspects of VI education and training programs, including defining the desired level of mastery and program content and aligning evaluation measures. They also provide a basis for an educational framework to inform competencies in VI across multiple professions and for career benchmarking more broadly.