Genetic and genomic testing is an exciting and emerging field of medicine. Many initial breakthroughs have revolutionized how we diagnose, treat, and manage disease. However, like any new medicine, genetic testing is still developing and learning from successes and failures. In a recent study, re-evaluation by a third party found that 40% of the most common variants classified as Pathogenic or Likely Pathogenic within the mostly widely used variant classification public database were candidates to be downgraded [Xiang, J. et al., Sci Rep 10. 331 (2020)].
Patients confronted with a positive test result (Pathogenic or Likely Pathogenic) often face difficult medical management decisions. The Center for Genomic Interpretation’s (CGI’s) Variant FactChecker® provides a second opinion for the classification of the variant. This is a research-use-only classification, to assist you as you make decisions.
What is Variant FactChecker®?
Variant FactChecker® allows patients and clinicians to consult with CGI’s industry experts about the classification of the variant(s) found on patient reports. CGI’s experts have decades of combined experience in the genetic testing industry and have helped establish the standards of variant classification (see “Our Science”).
Customers of Variant FactChecker® receive a detailed report for the variant of interest. These reports use simple terms that explain the strength of evidence and validity of claims on the original test report as a second opinion. Turnaround time usually takes three business days. This second opinion research service can give valuable information to patients and clinicians making difficult and/or irreversible medical management decisions.
Who Should Use Variant FactChecker®?
Anyone who wishes to get a deep research based second opinion on their pathogenic or likely pathogenic variant classification(s) before making a change in medical management is welcome to request a Variant FactChecker® evaluation.
How Much Does Variant FactChecker® Cost?
Pricing is tailored to the depth and complexity of the analysis required to provide you with the high quality research you need to make the most informed decisions. Please contact CGI for pricing and instructions on how to securely share your genetic or genomic test report with us in a HIPAA-compliant manner.