OA: Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer - The Journal of Molecular Diagnostics Ovarian Cancer and Us OVARIAN CANCER and US Ovarian Cancer and Us

Blog Archives: Nov 2004 - present

#ovariancancers



Special items: Ovarian Cancer and Us blog best viewed in Firefox

Search This Blog

Monday, January 02, 2017

OA: Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer - The Journal of Molecular Diagnostics



The Journal of Molecular Diagnostics

 Article Outline
  1. Databases
    1. Genomic Databases
    2. Reference Sequence Databases
    3. Population Databases
    4. Cancer-Specific Databases
    5. Constitutional Variant Databases
    6. Internal (Laboratory-Generated) Databases
  2. In Silico (Computational) Prediction Algorithms
  3. Variant Identification and Annotation
  4. Proposed Guideline for Evidence-Based Categorization of Somatic Variants
    1. Tier I Variants: Variants with Strong Clinical Significance (Level A and B Evidence)
      1. Variants with Level A Therapeutic Significance
      2. Variants with Level A Diagnostic/Prognostic Significance
      3. Variants with Level B Therapeutic Significance
      4. Variants with Level B Diagnostic/Prognostic Significance
      5. Germline Pathogenic Variants Associated with Cancer Predisposition
    2. Tier II Variants: Variants with Potential Clinical Significance (Level C and D Evidence)
      1. Variants with Level C Therapeutic Significance
      2. Variants with Level C Diagnostic/Prognostic Significance
      3. Variants with Level D Therapeutic Significance
    3. Tier III Variants: Variants of Unknown Significance
    4. Tier IV Variants: Benign or Likely Benign
    5. Germline Variants Identified during Cancer Testing
  5. Interpretation and Reporting
    1. Tier-Based Reporting
    2. Nomenclature
    3. Other Reporting Elements
    4. Reporting of Germline Variants
    5. Reporting the Clinical Significance of Detected Variants
    6. Updating Knowledge
    7. Reporting Method
    8. Integration with Electronic Health Records
  6. Conclusion
  7. Disclaimer
  8. Supplemental Data
  9. References
 It is our hope that the guidelines presented herein will achieve widespread use in the cancer genomics community and engender significant improvements in the practice of genomic testing and precision care for cancer patients.

0 comments :

Post a Comment

Your comments?