Abstract
Basic science technologies and platforms have unraveled the molecular basis of carcinogenesis, both genetic and epigenetic events. Few of the events
which are repeatedly observed and are actionable, gave birth to the science “Precision Oncology”. The evolution of molecular testing has made a major
stride in the recent times, and has empowered personalized cancer medicine over the conventional blanket treatment. Among the important diagnostic
technologies, Next Generation Sequencing (NGS) based in-vitro diagnostics have contributed substantially to comprehensive genomic profiling (CGP) in
clinical practice that is meant for the detection of substitutions, insertions and deletions (indels), copy number alterations, and gene rearrangements, as
well as genomic signatures including Microsatellite Instability (MSI), Loss of Heterozygosity (LOH), Homologous Recombination Defect (HRD Score), Tumor
Mutation Burden (TMB). CGP has come into clinical practice with various guidelines endorsing its clinical utility in various indications, both tumor specific
and tumor agnostic. Lung cancer is an excellent example where the role of NGS based comprehensive genomic profiling (CGP) has been recommended
upfront either on tissue or blood (Liquid Biopsy). In ovarian cancer, calculation like LOH or HRD score, based on the tissue NGS, has widen the eligibility of
PARP inhibitor drugs. Further, NTRK fusions, MSI and TMB biomarkers are universal supporting tumor agnostic approach. CGP is a tremendous diagnostic
application but brings challenges especially interpretation which are affected by intra/inter tumor heterogeneity, identification of multiple driver
mutations, multiple targets and treatment options, cross talk of various mutations and genomic signatures, and various signaling pathways, variable variant
allele frequency (VAF), cut-offs for various scores like TMB, LOH, HRD. All these challenges are currently overcome by Molecular Tumor Boards, where basic
science understanding in conjunct with clinical experience, has made a huge difference. Thus, offering true precision oncology with unique treatment
options for individual patient.
Keywords
Precision Oncology Personalized Cancer Medicine Next Generation Sequencing Comprehensive Genomic Profiling
References
- Grozescu T, Popa F. Prostate cancer between prognosis and adequate/proper therapy. J Med Life. 2017;10(1):5-12
Abstract
Basic science technologies and platforms have unraveled the molecular basis of carcinogenesis, both genetic and epigenetic events. Few of the events
which are repeatedly observed and are actionable, gave birth to the science “Precision Oncology”. The evolution of molecular testing has made a major
stride in the recent times, and has empowered personalized cancer medicine over the conventional blanket treatment. Among the important diagnostic
technologies, Next Generation Sequencing (NGS) based in-vitro diagnostics have contributed substantially to comprehensive genomic profiling (CGP) in
clinical practice that is meant for the detection of substitutions, insertions and deletions (indels), copy number alterations, and gene rearrangements, as
well as genomic signatures including Microsatellite Instability (MSI), Loss of Heterozygosity (LOH), Homologous Recombination Defect (HRD Score), Tumor
Mutation Burden (TMB). CGP has come into clinical practice with various guidelines endorsing its clinical utility in various indications, both tumor specific
and tumor agnostic. Lung cancer is an excellent example where the role of NGS based comprehensive genomic profiling (CGP) has been recommended
upfront either on tissue or blood (Liquid Biopsy). In ovarian cancer, calculation like LOH or HRD score, based on the tissue NGS, has widen the eligibility of
PARP inhibitor drugs. Further, NTRK fusions, MSI and TMB biomarkers are universal supporting tumor agnostic approach. CGP is a tremendous diagnostic
application but brings challenges especially interpretation which are affected by intra/inter tumor heterogeneity, identification of multiple driver
mutations, multiple targets and treatment options, cross talk of various mutations and genomic signatures, and various signaling pathways, variable variant
allele frequency (VAF), cut-offs for various scores like TMB, LOH, HRD. All these challenges are currently overcome by Molecular Tumor Boards, where basic
science understanding in conjunct with clinical experience, has made a huge difference. Thus, offering true precision oncology with unique treatment
options for individual patient.
Keywords
Precision Oncology Personalized Cancer Medicine Next Generation Sequencing Comprehensive Genomic Profiling
References
- Grozescu T, Popa F. Prostate cancer between prognosis and adequate/proper therapy. J Med Life. 2017;10(1):5-12
Details
| Primary Language | English |
|---|---|
| Subjects | Clinical Sciences |
| Journal Section | Meeting Abstract |
| Authors | |
| Publication Date | August 9, 2022 |
| Submission Date | July 5, 2022 |
| Published in Issue | Year 2022 |