Workshops to improve use of functional evidence build confidence and suggest a practice development approach.
Rehan Marie VillaniiD, Bronwyn TerrilliD, Emma TudiniiD, Ebony MatotekiD, Tessa MattiskeiD, Corrina C. CliffeiD, Bryony A. ThompsoniD, Laveniya SatgunaseelaniD, Christopher Norman HahniD, Ben LundieiD, John ChristodoulouiD, Alan F. RubiniD, Amanda B. SpurdleiD
Abstract
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.
02 /Specification & Classification
Click any tag to browse matching papers- Citations
- 0
- Research Focus
- Approach
Reproducibility ledger
Nobody has reported trying to reproduce this paper yet. Did you replicate an experiment or run the code? Your report saves the next lab a week.
Sign in to file a reproducibility report.
Related papers
- Consultation informs strategies to improve functional evidence use in variant classification
Rehan Marie Villani, Bronwyn Terrill, … Amanda B. Spurdle·medRxiv·Dec 4, 2024
- Insights on improving accessibility and usability of functional data to unlock its potential for variant interpretation
Min Seon Park, Runjun D. Kumar, … Andrew B. Stergachis·medRxiv·Jan 25, 2025
- A Comparative Survey of Functional Evidence Use in Hearing and Vision Loss Genetics
R. Arda Inan, Marina T. DiStefano, … Barbara Vona·Communications MedicinePeer-reviewed·May 30, 2026
- ClinGen Variant Curation Interface Workshops: Training Variant Scientists on an International Platform
Deborah Ritter, Mark E. Mandell, … Sharon E. Plon·Genetics in MedicinePeer-reviewed·May 1, 2026
- Measuring the Meaning of Genomic Results: Harmonization of the Metric for Case-Level Results in the CSER2 Consortium
Bradford C. Powell, Laura M. Amendola, … Kevin M. Bowling·medRxiv·Jun 1, 2026
- Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework
Sarah E. Brnich, Ahmad N. Abou Tayoun, … Jonathan S. Berg·Genome MedicinePeer-reviewed·Dec 31, 2019