P714: Enhancing laboratory efficiency: Implementation of Revvity Transcribe AI for automated data entry in newborn screening

Abstract

20 years of experience.A majority of the respondents reported interpreting more than 100 variants per year (71.6%), with 26.8% reporting reinterpreting more than 26 variants per year.80.5% of responders reported that insufficient data was frequently the cause for classifying variants as VUS.Overall, 78.4% of respondents reported engaging with functional evidence and most (77.4%)evaluating functional data for variant classification in the clinical setting.More than half of the respondents reported functional data was rarely or never available for their variants of interest (67.4%).A majority (90.5%) of respondents considered insufficient quality metrics or confidence in the accuracy of functional data to be a barrier to using functional evidence.When asked about options of interventions that could improve use of functional evidence, almost half of the respondents noted access to primary functional data (42.6%), and standardized interpretation of functional data through ClinVar (45.8%) would significantly improve their use.Conclusion: Overall, the results of this study provided insights on the functional evidence usage for individuals involved in variant interpretation.It also showed a demand for a robust database that provides more accessible information on the quality and accuracy of functional evidence to promote use of functional evidence in variant interpretation.

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