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Precision diagnostics in cancer: Predict, prevent, and personalize.

Judy S Crabtree1, Lucio Miele1

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|August 25, 2022
PubMed
Summary

Clinical genomics, powered by next-generation sequencing, enables personalized cancer care. This precision diagnostics approach analyzes individual and tumor genetics for predictive and preventive oncology strategies.

Keywords:
Copy number variants (CNV)Genomic testingInsertion/deletion (indels)Next generation sequencing (NGS)Precision medicineSingle nucleotide variant (SNV)Somatic oncologyTargeted panelsTargeted therapy

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Area of Science:

  • Genomic Medicine
  • Oncology
  • Translational Bioinformatics

Background:

  • Clinical genomics has advanced significantly due to next-generation sequencing (NGS) technologies.
  • Whole genome sequencing is now cost-effective and rapid for clinical use.
  • Genetics-based management is increasingly feasible, particularly in oncology, with better reimbursement and targeted therapies.

Purpose of the Study:

  • To highlight the transformative impact of clinical genomics and precision diagnostics in oncology.
  • To discuss the role of genomic data in personalized cancer care, risk assessment, and treatment selection.
  • To underscore the collaborative efforts and data resources advancing cancer genomics research.

Main Methods:

  • Leveraging next-generation sequencing (NGS) for whole genome sequencing in clinical settings.
  • Utilizing large-scale cancer genome datasets (e.g., ICGC, PCAWG, TCGA).
  • Integrating variant data from clinical databases (e.g., ClinVar, PharmGKB) for disease and drug response associations.

Main Results:

  • Precision diagnostics enable comprehensive cancer management, from risk assessment to longitudinal monitoring.
  • Genomic variation studies provide insights into cancer development, evolution, and treatment response.
  • Global collaborative efforts have generated extensive cancer genome archives.

Conclusions:

  • Clinical genomics is ushering in an era of predictive, preventive, and personalized oncology.
  • The integration of genomic data offers unprecedented opportunities for mechanistic and clinical insights into neoplastic diseases.
  • Despite challenges in defining actionable variants, the field holds immense potential for improving cancer care.