Applying the ClinGen/CGC/VICC oncogenicity guidelines within a clinical workflow

[wesleygoar]

Submitter Name

Wes Goar

Submitter Affiliation

Nationwide Children's Hospital

Submitter Github Handle

wesleygoar

Additional Submitter Details

Senior Bioinformatics Scientist at the Institute for Genomic Medicine at Nationwide Children's Hospital.

Project Details

The Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC) recently published standards for the classification of somatic cancer variation in relation to oncogenicity. This framework complements the 2017 AMP/ASCO/CAP standards and guidelines for somatic variant interpretation and reporting by providing formal criteria for upstream evaluation of variant oncogenicity. Our planned implementation of the ClinGen/CGC/VICC oncogenicity standard has led to the identification of points of consideration in our clinical laboratory workflows.

I propose a roundtable discussion regarding the implementation of these guidelines within clinical workflows to discuss the challenges we have faced and how these guidelines could be revised or updated. Some specific points to mention for discussion from our experience.

• "well-established" in vitro or in vivo studies
• "well-established and critical" part of a functional domain
• Use of code OP2: somatic variant in gene in a malignancy with a single genetic etiology.
• How do the oncogenicity guidelines complement the AMP/ASCO/CAP guidelines and what to do if the oncogenicity guidelines classify a variant as VUS or below but the AMP/ASCO/CAP guidelines classify as actionable.
• Downgrading or upgrading code values based on strength of evidence?

Required Knowledge

• Knowledge of clinical reporting workflows
• AMP/ASCO/CAP Guidelines
• ClinGen/CGC/VICC Guidelines
• Genetics

[ahwagner]

more than 10

[ahwagner]

Notes Participation form