Select the correct genetics test for patients referred with acquired cancer.

• As examples: sporadic colorectal cancer, lung cancer and leukaemia (CML, ALL and AML).

• 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.

Perform gene fusion analysis using appropriate current technology on oncology samples.

• As examples: sporadic colorectal cancer, lung cancer and leukaemia (CML, ALL and AML).

• 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).

Perform whole genome analysis on samples from patients with leukaemia at diagnosis.

• Examples CML, ALL and AML.

• 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.

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.

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.

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.