Improving genetic variant interpretation through data sharing with trusted partners of choice.
DNA-sequencing technologies and bioinformatic tools offer unique opportunities to identify genetic variation in a patient that may be relevant to their condition, shortening the time to reach a diagnosis and initiate intervention. However, finding the genetic variant causative to a disease among the 3 billion letters that make up a person’s genome is a complex task where errors can have a serious impact on patient lives.
By working with partners in the BigMed project and gathering needs from clinical genetic laboratories in the Nordic countries through the Nordic Alliance for Clinical Genomics, DNV GL has developed the Trusted Variant eXchange (TVX) solution to share anonymous variant data to drive harmonization of variant interpretation and improve the quality of clinical genetics services.
TVX enables clinical genetic labs to share and compare quality assured information about classification of genetic variants with other labs that they trust. Key features of TVX include:
- Quality assurance of variant classifications.
- Controlled and secure sharing of variant classification data with trusted partners of choice.
- Laboratory specific dashboards that include details of classification discordance.
- Push notification of discordance of new and historically interpreted variants.
Sharing of classifications and supporting evidence between laboratories will lead to harmonization of classification procedures and standardization of formats used, driving continuous improvement of this emerging area of diagnostics.
A demonstrator was developed as part of BigMed WP3 on Genomics Data Sharing and tested with dummy variant data.
DNV GL will continue work to take the demonstrator and develop a full solution with the goal to implement it as the preferred solution for sharing of classifications of genetic variants.