Genetics of cancer medicine acquired excluding leukaemia and lymphoma

Details

Title

Genetics of cancer medicine acquired excluding leukaemia and lymphoma

Type

Stage Two

Module code

HLS428

Requirement

Compulsory

Module objective

By the end of the training period trainees will, in respect of genetics of cancer medicine (acquired), understand the rationale of genetics screening and testing for oncology (acquired) and be able to

• analyse, synthesise, evaluate and apply knowledge
• perform adapt and master a range of scientific and clinical skills and procedures understand the technical principles and processes underpinning these skills
• demonstrate the attitudes and behaviours necessary for professional practice as a consultant clinical scientist dealing with the complexities, uncertainties and tensions of professional practice at this level.

Knowledge and understanding

1. Selection and validation of appropriate screening protocols
2. Selection and validation of appropriate tests
3. Selection and use of appropriate samples
4. Timeliness of tests
5. Scientific quality assurance of test procedures
6. Validity and reliability of test results and their application
7. Costs of tests
8. Current scientific theories of cancer development
9. Pathways of cell cycle control, etc.
10. Significance of different pathways of cancer development (i.e. of mutations in different genes) to cancer treatment and prognosis

By the end of the training period the trainee will be able to demonstrate the ability to analyse, evaluate and synthesise relevant knowledge and its application to their professional practice in relation to:

• identify selection criteria for genetic testing in cancer medicine
  • general population screening (e.g. bowel, breast) v selection for inherited cancer
  • diagnostic investigations for cancer (e.g. MRI, US, PET, histopathology)
  • current knowledge mutations in specific tumour types v prognosis and treatment regimes
  • national guidelines
• identify selection and availability of appropriate genetic tests in cancer medicine
  • FISH/IHC testing (e.g. to detect ALK translocations in non-small cell lung cancer)
  • microarray testing (e.g. MIP arrays)
  • molecular testing: mutation detection and LOH
    • testing methods (MALDI-TOF, pyro, sequencing, NGS, RT- PCR) sensitivity, cost, specimen requirements: Liaison x pathology re. tumour content, activating mutations v TS loss
  • genes and mutations important in different cancer types
    • EGFR, ALK x non small cell lung cancer
    • BRAF x melanoma
    • KRAS/BRAF/MSI x colorectal cancer
    • CRUK listed genes (e.g..: KIT, PTEN, TMPRSS-ERG, TP53)
• identify selection and use of appropriate samples
  • sample types
    • tumour – primary, metastases
    • cell free DNA in blood
• sample preparation
  • tumour
  • sample volumes
  • storage/transit life
• understand of the timeliness of tests in the context of cancer medicine
• scientific quality assurance of test procedures
  • test validation
  • quality control measures
  • internal/external quality assurance
• validity and reliability of test results and their application
• basis/theory of assigning pathogenicity to variants
  • internal quality assurance
  • external quality assurance
• • value of user feedback and interaction

Technical and clinical skills

By the end of the training period the trainee will be able to demonstrate a critical understanding of current relevant research, theory and knowledge and its application to the performance, adaptation and mastery of the following technical procedures and laboratory skills:

• laboratory techniques relevant to the test repertoire, e.g.:
  • pyrosequencing
  • FISH
  • LOH
  • RT-PCR
  • sequencing: Sanger and NGS
• systems for ensuring the quality assurance of test procedures and reagents
  • use of appropriate internal controls
  • monitoring assay performance
  • internal quality assurance
  • external quality assurance
• validity and reliability of test results and their application
  • using available IT systems to produce timely, accurate and relevant laboratory reports with appropriate interpretative comments
    • database
    • software to assess pathogenicity
    • significance for treatment options
    • significance for prognosis
    • further testing recommended.

By the end of the training period the trainee will be able to apply knowledge of genetics of cancer medicine (acquired) to perform, adapt and master clinical skills necessary to manage the:

• biological and clinical context in which tests are offered
• socio-economic context in which tests are offered
• molecular/cytogenetic tests required to investigate a cancer referral as a result of:
  • one family history
  • tumour/other characteristics