Competency information
Details
Analyse samples for a range of sequence variants to aid diagnosis and prognosis.
Considerations
- Quality analysis of samples for NGS and at each stage of the procedure
- Different types of approach and panel relevant for the disease
- Principles of the assays performed
- Use of bioinformatic tools for the analysis of results Use of various databases to assess and classify variants (pathogenic vs variants of uncertain significance vs benign polymorphisms)
- Tools to identify relevance of the variant detected Correct nomenclature for reporting of acquired variants (HGVS)
- Considerations concerning inherited variants
- Age related clonal haematopoiesis
- Consent and ethical considerations for the use of next generation sequencing
- Role of next generation sequencing as a “one size fits all test”
- Role of large sequencing projects eg100K genomes project
- National and international guidelines for interpretation of next generation sequencing
Relevant learning outcomes
| # | Outcome |
|---|---|
| # 3 | Outcome Apply the appropriate testing strategy for a range of complex myeloid malignancies including AML, MDS, considering the approach for subclassification and prognosis of disease |
| # 4 | Outcome Implement the appropriate strategy for monitoring residual disease in patients with acute myeloid leukaemia |
| # 5 | Outcome Implement the appropriate testing strategy for a range of lymphoid malignancies including CLL and large B cell lymphomas, including assessment of lymphoid clonality |
| # 7 | Outcome Interpret and report on the relevant laboratory procedures for the diagnosis of a range of myeloid and lymphoid malignancies |