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Learning outcome |
Title |
Knowledge |
| 1 |
1,2,3 |
Receive samples and decide on the appropriate diagnostic pathway for patients with a suspected diagnosis of the following conditions :
- AML
- MDS
- CLL
- Large B cell lymphoma
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- WHO classification of the relevant disorders
- Usual clinical features of the relevant disorders
- Morphological features of the peripheral blood
- film,bone marrow aspirate, bone marrow trephine or lymph node biopsy (as appropriate) for the relevant disorders
- Immunophenotypic features, where relevant, of the disorders
- Interaction between different laboratory and clinical approaches for diagnosis
- National and international guidelines for laboratory diagnosis of haematological malignancies
- Identification of samples and documentation
- Factors affecting sample quality and suitability for examinations
- Appropriate choice of assays according to clinical details and results of other laboratory findings
- Application of cytogenetic analysis to guide treatment choice
- Significance of array CGH (SNP array) Storage of samples
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| 2 |
3,5 |
Assist with the preparation of samples for analysis, selecting the correct sample processing pathway(s) :
- AML
- MDS
- CLL
- Large B cell lymphoma
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- Health and safety requirements for processing of fresh peripheral blood or bone marrow samples and cell culture
- Cell culture and preparation of G-banded chromosomes
- Factors affecting quality of samples for G-banding of leukaemia samples
- Preparation of slides for analysis from paraffin embedded blocks
- Selection of the appropriate area for analysis (eg morphological assessment of H&E stained slide)
- Principles of relevant technologies
- Health and safety requirements for use of appropriate equipment (eg fluorescence microscope)
- Chromosomal changes in the relevant disorders
- Role of molecular cytogenetics for diagnosis and prognosis
- Application of molecular cytogenetic analysis to guide treatment choice
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| 3 |
3,7 |
Analyse samples for clinically significant gene fusions |
- Basic chromosome identification
- Karyotype analysis
- Numerical and structural abnormalities
- Correct ISCN nomenclature
- Chromosomal changes in relevant disorders that are detectable by G-banding
- Principles of relevant technologies g. FISH, RT-PCR, RNA-Seq
- Internal quality control for assays
- Importance of external quality assurance
- Role of validation and verification of procedures and equipment
- Understanding of ISO 15189 or equivalent
- National guidelines for pathways and procedures
|
| 4 |
3,7 |
Analyse samples for genomic rearrangements and or copy number variation (CNV) using standard laboratory methodology for patients referred at diagnosis |
- Requirements of the sample for successful nucleic acid extraction
- Health and safety requirements for processing of fresh peripheral blood, bone marrow or paraffin embedded samples
- Principles of molecular genetic approaches for identification of oncogene fusions
- Choice of appropriate tests according to the suspected diagnosis eg G-band analysis, FISH, microarray, RNA-Seq
- Limitations of each procedure including limit of detection, sensitivity and specificity
- Factors affecting the quality of molecular results Interpretation of results
- Integration of results with molecular cytogenetic data
- Importance of knowledge of the transcript type or breakpoint for fusion genes
- Consideration of rare and unusual transcript type or breakpoints
- Internal quality control for assays Importance of external quality assurance
- Role of validation and verification of procedures and equipment
- Understanding of ISO 15189 or equivalent
- National guidelines for pathways and procedures
|
| 5 |
3,7 |
Perform the appropriate genetic investigations for patients referred with CLL |
- Requirements of the sample for successful nucleic acid extraction
- Health and safety requirements for processing of fresh peripheral blood, bone marrow or paraffin embedded samples
- Principles of molecular genetic approaches for identification of acquired mutations
- Choice of appropriate tests according to suspected diagnosis to include single nucleotide variation (SNV) and copy number variation (CNV)
- Limitations of each procedure including limit of detection, sensitivity and specificity
- Factors affecting quality of molecular results Interpretation of results
- Common artefacts
- Correct nomenclature for reporting of acquired mutations (ISCN or HGVS)
- Internal quality control for assays Importance of external quality assurance
- Role of validation and verification of procedures and equipment
- Understanding of ISO 15189 or equivalent
- National guidelines for pathways and procedures
|
| 6 |
3,5,7 |
Perform the appropriate genetic investigations for patients referred with large B-cell lymphoma |
- Requirements of the sample for successful nucleic acid extraction
- Health and safety requirements for processing of fresh peripheral blood, bone marrow or paraffin embedded samples
- Principles of molecular genetic approaches for identification of acquired mutations
- Choice of appropriate tests according to suspected diagnosis to include analysis of commonly observed gene rearrangements
- Limitations of each procedure including limit of detection, sensitivity and specificity
- Factors affecting quality of molecular results Interpretation of results
- Common artefacts
- Correct nomenclature for reporting of acquired mutations (ISCN or HGVS)
- Internal quality control for assays Importance of external quality assurance
- Role of validation and verification of procedures and equipment
- Understanding of ISO 15189 or equivalent National guidelines for pathways and procedures
|
| 7 |
5,7 |
Analyse and interpret the result of Lymphoid clonality assessment (IG gene rearrangement) to aid the diagnosis of mature lymphoid malignancies |
- Requirements of the sample for successful nucleic acid extraction
- Health and safety requirements for processing of fresh peripheral blood, bone marrow or paraffin embedded samples
- Principles of molecular genetic approaches for identification clonal IG gene rearrangement
- Choice of appropriate tests according to suspected diagnosis
- Limitations of the procedure including limit of detection, sensitivity and specificity
- Factors affecting quality of molecular results Interpretation of results
- Common artefacts
- International guidelines for the interpretation of gene rearrangement / clonality assays
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| 8 |
3,4,5,7 |
Analyse samples for a range of sequence variants to aid diagnosis and prognosis. |
- 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
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| 9 |
6,7 |
Prepare clinical reports for patients being investigated for a range of examples including :
- AML
- MDS
- CLL
- Large B cell lymphoma
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- Requirements for information to be provided on the report
- Integration of all laboratory results for a final conclusion
- Recommendations for future testing
- National and international guidelines for diagnosis of relevant conditions
- Factors affecting the interpretation of results
- Role of multidisciplinary team meetings
- Correct scientific and clinical nomenclature
- Confidentiality and clinical governance
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| 10 |
3,4 |
Analyse and interpret appropriate genetic investigations for the monitoring of patients (eg AML) |
- Requirements of the sample for successful monitoring of residual disease
- Health and safety requirements for processing fresh samples
- Principles of the techniques for monitoring residual disease
- Choice of appropriate monitoring approaches for different patients
- Limitations of each procedure including limit of detection, sensitivity and specificity
- Factors affecting quality of molecular results Interpretation of results
- National and international guidelines for monitoring of residual disease
- Clinical and therapy relevance of monitoring results
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| 11 |
3,6 |
Perform and interpret appropriate genetic investigations for the monitoring of patients after bone marrow transplantation |
- Principles of the techniques for post transplant chimerism analysis
- Requirements of the sample for successful chimerism analysis
- Limitations of the procedure including limit of detection, sensitivity and specificity
- Factors affecting quality of molecular results Interpretation of results
- Clinical implications of the results obtained
- National and international guidelines for post transplant chimerism analysis
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| 12 |
1,7 |
Assist with the preparation of cases to be discussed and reviewed in an MDT meeting with other healthcare professionals |
- Integration of laboratory and clinical findings for a final diagnosis
- Identification of the most appropriate treatment Monitoring of residual disease
- Role of NICE and clinical trials
- National and international studies and projects
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| 13 |
1 |
Observe a clinic where a patient is being given results of laboratory tests that include genetic analysis. Reflect on this experience and present to colleagues |
- Information regarding potential outcomes of a genetic test
- Implications of the genetic results for diagnosis/prognosis
- The role of the Healthcare professional providing the information to the patient
- Principlas of patient centred careInteraction with patient
- Consent issues (for patient testing and for observation by a trainee)
- Professional behaviour
- Role and process of active listening
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