Summary of valuable references and guidelines relevant to clinical NGS oncology testing
Source | Title | Content summary | Reference | |||
New York State Board of Health | "Next Generation" Sequencing (NGS) guidelines for somatic genetic variant detection | Detailed standards for technical validity | 11 | |||
ACMG | Standards and guidelines for the interpretation of sequence Variants | Guidelines for clinical validity assessment, particularly for germline/constitutional variants | 12 | |||
ACMG | ACMG clinical laboratory standards for next-generation sequencing | Broad summaries of major areas of consideration for clinical validation of all NGS assay | 13 | |||
CDC | Assuring the quality of next-generation sequencing in clinical laboratory practice | Detailed recommendations for technical validity assessment/validation of all NGS assays | 14 | |||
CDC | Good laboratory practice for clinical next-generation sequencing informatics pipelines | Detailed recommendations for clinical validity assessment for all NGS assays | 15 | |||
Quest Diagnostics (reference laboratory) | Annotation of sequence variants in cancer samples processes and pitfalls for routine assays in the clinical laboratory | The framework for a repeatable workflow for clinical validity assessment in use at a high volume testing facility is described | 16 |
ACMG: American College of Medical Genetics and Genomics; CDC: United States Centers for Disease Control and Prevention