9
PCO 4.3
➤ Off-label and off-study use of genomic biomarker-linked therapies
approved in other diseases is NOT recommended when a clinical
trial is available or without clinical evidence of meaningful efficacy.
(Strong recommendation)
Section 5: Elements to Consider While Reviewing Genomic
Testing Results
➤ Tumor only testing versus matched tumor-normal testing:
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.
➤ Targeted sequencing approach: Multigene panel-based sequencing
reports should specify which of the two methods is used:
• Amplicon sequencing or
• multiplex polymerase chain reaction (PCR) amplification of select gene DNA or
genomic mutational hotspots using sequence specific primers.
➤ Genes tested: Multigene panel-based sequencing reports should
clearly state which genes were included; if the whole gene was
sequenced or only its hotspots, or testing of select exons, or introns.
Sequencing reports should also include which, if any, regions failed
analysis and reason for sequencing failure.
➤ Description of genomic alterations should include:
• 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.
