Homologous Recombination Deficiency (HRD) has been shown to be an effective pharmacogenetic
biomarker for determining the efficacy of PARP inhibitor therapy across various tumor
types. There is continued research on the best approach to measure HRD status including
assessments of sequence variants of homologous recombination repair pathway genes
and consequential patterns of genomic instability. Recent technological advancements
have enabled for more robust measurement of the cytogenomic aberrations associated
with genomic instability emphasizing the importance of its analysis for HRD. Various
publications have defined multiple “genomic scars” to determine HRD genomic instability
and it has been further reported that a combined analysis of these genomic scars can
offer a better estimate of HRD status of the tumor. In this presentation, we will
provide a review of the current evidence on HRD genomic instability as a pharmacogenomic
marker, describe the various cytogenomic and molecular methods for detection of genomic
scars, and highlight challenges and solutions for measuring these genomics scars using
available software tools. We also will introduce a new analysis approach for analysis
of genomic instability which enables a more robust assessment of genomic scars across
various technology types that enables comprehensive scoring of HRD status. We will
demonstrate how such measurements can be made from various genomic techniques including
chromosomal SNP microarrays, cancer specific NGS panels, as well as Optical Genome
Mapping (OGM) using example cases processed on differing platforms to provide insight
to the relative advantages for an analysis of genomic instability.
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© 2022 Published by Elsevier Inc.