Interpretation of which genetic variants are relevant to a patient’s condition is key to accurate diagnosis and the right choice of intervention. Sharing of interpretations is important for quality assurance, sharing of expertise and for shortening the diagnostic odyssey for patients.
BigMed has dedicated a work package to genomics and data sharing. As part of this work, DNV GL has worked with project partners to develop the Trusted Variant eXchange (TVX) demonstrator. The TVX enables labs to manage and quality control their variant classifications. They can share these classifications, and the evidence behind them, with trusted partners in a secure environment, while maintaining control of their data. TVX continuously tracks discordances in classifications, and alerts labs to these events.