Endocrinological genetics including DSD

Details

Title

Endocrinological genetics including DSD

Type

Stage Two

Module code

HLS424

Requirement

Compulsory

Module objective

By the end of the training period trainees will, in respect of endocrinological genetics, understand the rationale of genetics screening and testing for endocrinology (including infertility and disorders of sexual differentiation excluding cancer) 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. Normal sexual development
9. Steroidogenesis pathway and other aspects of endocrine organs and pathways
10. Theories of genetic contribution to complex disease

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:

• the selection criteria for testing in postnatal medicine re endocrinology
  • clinical signs
    • adults, e.g. cancers (MEN, FTC, phaeochromocytomas, MODY, Turners
    • paediatric, e.g. DSDs (inc CAH, delayed puberty), short stature (SHOX, Turners), growth hormone deficiency, septo-optic dysplasias (hypothalamus/pituitary malfunction)
  • biochemical, imaging and other investigations
  • recognised patient care/testing pathways
  • complex diseases – e.g. diabetes – no testing
• the selection and availability of appropriate genetic tests in endocrinology
  • Endocrinology/DSD
    • whole genome/cytogenetics
    • gene panel (e.g.CAH)
    • single gene (e.g. WT1, AR gene)
  • Fertility
    • whole genome/cytogenetics
    • gene panel (e.g. Kallman)
    • single gene (e.g. CF, FrX x POF, DM, AZF delns)
• the selection and use of appropriate samples
  • sample types
  • sample volumes
  • storage/transit life
• the timeliness of tests in the context of endocrinology
• scientific quality assurance of test procedures
  • test validation
  • quality control measures
  • internal/external quality assurance
• validity and reliability of test results and their application
  • internal quality assurance
  • external quality assurancequality control measures
  • 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
  • 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
    • recurrence risks
    • risks to relatives.

By the end of the training period the trainee will be able to apply knowledge of endocrinological genetics 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 the patient as a result of:

• phenotype
• biochemical and other test results