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Workshops to improve use of functional evidence build confidence and suggest a practice development approach.

Villani, R. M.; Terrill, B.; Tudini, E.; Matotek, E. P.; Mattiske, T.; Cliffe, C. C.; Thompson, B. A.; Satgunaseelan, L.; Hahn, C. N.; Lundie, B.; Christodoulou, J.; Rubin, A. F.; Spurdle, A. B.

2025-11-13 genetic and genomic medicine
10.1101/2025.11.10.25339935 medRxiv
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PurposeTo increase diagnostic yield from genomic testing, it is essential to improve the use of experimental data as functional evidence in variant classification. Recent work suggests building confidence of those performing functional data evaluation may improve their capability to use functional evidence. We present a solution to develop confidence and build capability while supporting practice development, through workshop-based community discussion and consultation. MethodsA series of workshops were delivered, each with learning content centred on current expert recommendations while surveying participants in their experimental evaluation practice and opinions around evaluating experimental data. ResultsWorkshop participants were highly engaged and indicated a desire for further training and resources. Consultation suggested that ambiguity in the current recommendations underpinned differences in interpretation and ultimately resulted in practice variation. Collaborative, case-based discussion was identified as the overall preferred method of building confidence, so we propose this as an approach to field-based capability development. We delivered case-based community discussion, after which participants reported improved comfort in the evaluation practice. ConclusionThrough the consultative workshop approach, workshop participants have built confidence but also contributed to developing field recommendations. Therefore, we recommend this approach as a means to capability development for evolving fields.

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