Somatic Genomic Testing for Metastatic or Advanced Cancer
Provisional Clinical Opinions (PCOs)
Section 1: Multigene Panel-Based Genomic Sequencing with Disease-Specific Approved Markers
- When there are genomic biomarker-linked therapies approved by regulatory agencies for their cancer.
- When considering a treatment for which there are specific genomic biomarker-based contraindications or exclusions.
- The known or predicted impact of a specific genomic alteration on protein expression or function and
- clinical data on the efficacy of targeting that genomic alteration with a particular agent.
Section 2: Assessment of dMMR and/or MSI-H Status, and TMB
- There are multiple approaches, including using large multigene panel-based testing to assess MSI.
- Consider the prevalence of dMMR and/or MSI-H status in individual tumor types when making this decision
Section 3: Testing for Gene Fusions and Exon Skipping Variants
Section 4: Diseases with No Approved Disease-Specific Markers
Section 5: Elements to Consider While Reviewing Genomic Testing Results
Tests should clearly state whether only the tumor was sequenced or whether both the tumor and a patient-matched normal sample was sequenced. The reporting strategy for P/LP germline alterations should be clearly stated. (, , )
- Amplicon sequencing or
- multiplex polymerase chain reaction (PCR) amplification of select gene DNA or genomic mutational hotspots using sequence specific primers.
- The nucleotide change, position of the change within DNA, variant type, variant consequence on the gene products, and, when applicable, amino acid change using Human Genome Variation Society (HGVS) nomenclature.
- The functional significance of the alteration.
- Whether fusions are tested, and if so, which ones.
- The known or unknown therapeutic implications of the alteration within the patient’s tumor type with clinically available therapies.
- Mutational clonality: Inclusion of VAF and copy number which may help with treatment selection.
Somatic Genomic Testing in Patients with Metastatic or Advanced Cancer
February 17, 2022
Supplemental Implementation Tools
Country of Publication
Male, Female, Adolescent, Adult, Child, Older adult
Health Care Settings
Hospital, Laboratory services, Outpatient
Nurse, nurse practitioner, physician, physician assistant
Diagnosis, Assessment and screening
D014408 - Biomarkers, Tumor, D000088744 - Genomic Medicine
Somatic Tumor Testing, genomic
Chakravarty D, Johnson A, Sklar J, et al. Somatic Genomic Testing in Patients with Metastatic or Advanced Cancer: ASCO Provisional Clinical Opinion. J Clin Oncol. 2022 Feb 17. doi:10.1200/JCO.21.02767