Genetics of cancer medicine constitutional

Details

Title

Genetics of cancer medicine constitutional

Type

Stage Two

Module code

HLS427

Requirement

Compulsory

Module objective

By the end of the training period trainees will, in respect of genetics of cancer medicine (constitutional), understand the rationale of genetics screening and testing for oncology 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.

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:

• identifying selection criteria for genetic testing in cancer medicine
  • general population screening (e.g. bowel, breast) versus selection for inherited cancer
  • diagnostic investigations for cancer (e.g. MRI, US, PET, histopathology)
  • calculation of risks of inherited cancer
    • family based
    • age at onset
    • types of tumour
  • national guidelines
• identifying selection and availability of appropriate genetic tests in cancer medicine
  • tumour screening (e.g. MSI, IHC)
  • mutation screening
    • scanning methods
    • sequencing (whole genome, gene panel, single gene, ethnic specific mutations)
  • predictive testing for mutation in family or ethnic group
  • genes involved in selection of cancers (+phenotypes)
    • colorectal (e.g. HNPCC, FAP, MUTYH)
    • breast/ovarian (BRCAs)
    • endocrine (MEN1,2)
    • Li Fraumeni – TP53
    • CNS (VHL, NF1/2)
    • pancreatic
    • gastric (E-cadherin, etc.)
    • renal (VHL, translocation)
• identifying selection and use of appropriate samples
  • sample types
    • tumour
    • blood
  • sample preparation
    • tumour
  • sample volumes
  • storage/transit life
• understanding of the timeliness of tests in the context of cancer medicine
  • mutation detection
    • standard
    • urgent (surgery, treatment)
  • predictive testing
• 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:

• tumour screening (e.g. MSI testing with microsatellites)
• laboratory techniques relevant to the test repertoire
  • whole genome
  • gene panel
  • single gene
• 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
    • cancer risks in mutation carriers
    • risks to relatives

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

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