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Learning outcome |
Title |
Knowledge |
1 |
1,2 |
Select the correct genetics test for patients referred with acquired cancer.
- As examples: sporadic colorectal cancer, lung cancer and leukaemia (CML, ALL and AML).
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- The principal referral reasons and guidelines in the cancer patient care pathway.
- Role of genetics testing in the diagnosis and treatment (clinical utility) of acquired solid tumours (e.g. sporadic colorectal cancer and lung cancer).
- Role of genetics testing in the diagnosis of leukaemia.
- The concept of minimal residual disease (MRD) and the utility of genetic testing in disease treatment and monitoring.
- The use of genetic testing in transplantation and chimerism monitoring.
- Concept of Precision Medicine and the applicability of genetic testing in guiding the treatment including the principles of cost effectiveness.
- The requirement for adherence to Turnaround Times including, but not limited to, those in national guidance such as Improving Outcomes guidance.
- The use and limitations of a range of sample types including formalin fixed paraffin embedded material, fresh frozen tissue, cell free circulating tumour DNA, bone marrow and peripheral blood.
- Wide but high level knowledge of different technologies and their application to enable appropriate decisions regarding processing and testing.
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2 |
1,2,3 |
Perform gene fusion analysis using appropriate current technology on oncology samples.
- As examples: sporadic colorectal cancer, lung cancer and leukaemia (CML, ALL and AML).
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- Rearrangements and translocations commonly associated with solid tissue cancer and named leukaemic types, as well as their clinical significance.
- Principles of main technologies (apart from chromosome analysis) utilised in the identification of rearrangements associated with cancer.
- Use of appropriate nomenclature for reporting gene fusions according to the technology utilised.
- Best practice guidelines for gene fusion analysis technologies in cancer patients (internal and external QA).
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3 |
1,2,4 |
Perform whole genome analysis on samples from patients with leukaemia at diagnosis.
- Examples CML, ALL and AML.
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- Use of ISCN for malignancy analysis
- The local guidance for whole genome analysis from patients with Leukaemia.
- Best practice guidelines, national/international guidance and QA (external and internal).
- Selection and analysis in mixed cell populuations
- Validation and verification of findings
- Prognostic and diagnostic genetic markers.
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4 |
1,2,3 |
Perform appropriate molecular testing on various cancer samples. |
- Principles underpinning current methods of mutation detection and genetic changes.
- The use and limitations of a range of sample types to analyse tumour DNA.
- Hot-spot mutation and multiple gene panel analysis associated with a number of cancer types.
- Utility and limitations of whole genome sequencing.
- Appropriate use of controls.
- Sensitivity of different testing methodologies and the relevance to mixed cell populations.
- The use of HGVS guidance for reporting of sequence variation in acquired disease.
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5 |
1,2,3 |
Perform appropriate genetic testing for monitoring and measurement of disease in relation to both treatment and prognosis. |
- The principles of technologies used to monitor patients for response to treatment and recurrence of disease.
- The sensitivity and specificity of different technologies in the different diseases and associated limitations in use.
- The importance of genetic testing in monitoring disease and the importance of factors such as TAT.
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6 |
5,6 |
Interpret and report on a range of genetic testing in haematological malignancy, including both diagnostic and follow-up (monitoring) analysis. |
- Interpretation of results including diagnostic and treatment recommendations, taking into account the relationships between chromosome abnormalities/genetic markers, other testing modalities and clinical diagnosis
- Use and critical appraisal of relevant literature and online databases.
- Role of multidisciplinary team (MDT) meetings and guidelines such as Improving Outcomes Guidance and NICE Guidelines
- The role of large scale national and international projects focussed on acquired disease.
- Recognising that all tests have been completed to a satisfactory standard for the referral reason.
- All information has been validated as correct.
- Selection of correct report template for referral reason.
- Recommendations for further referral (e.g. clinical genetics). Identify the requirements for any follow up testing, the testing methods available and the appropriate choice of test. Describe any limitations.
- Use of correct scientific and clinical terminology
- Use of relevant databases and literature in the interpretation of results.
- Communication of complex scientific information to clinicians and patients.
- Best practice guidelines compared with laboratory practice and any differences between the two
- How to identify pertinent EQA schemes; their role and practice, how these are incorporated into laboratory practice and ISO standards for lab participation in EQA schemes.
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