Paediatric genetics including dysmorphology excluding cancer

Details

Title

Paediatric genetics including dysmorphology excluding cancer

Type

Stage Two

Module code

HLS421

Requirement

Compulsory

Module objective

By the end of the training period trainees will, in respect of paediatric genetics including dysmorphology (excluding cancer), understand the rationale of genetics screening and testing in paediatric medicine 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

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 genetic testing in paediatric medicine
  • clinical signs
    • syndromic
    • anatomical
    • behavioural
  • recognised patient care/testing pathways
• selection and availability of appropriate genetic tests in paediatric medicine
  • general paediatrics
    • whole genome
    • gene panel
    • single gene
  • dysmorphology
    • whole genome
    • gene panel
    • single gene
  • disorders of sexual differentiation
    • whole genome
    • gene panel
    • single gene
• selection and use of appropriate samples
  • sample types
  • sample volumes
  • storage/transit life
• understanding of the timeliness of tests in the context of paediatric 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
  • 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:

• detection and identification of fetal ffDNA, cells or tissue and maternal cell contamination
• 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.

By the end of the training period the trainee will be able to apply knowledge of paediatric genetics including dysmorphology 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 risk to a pregnancy as a result of:
  • a particular family history
  • a prior finding from a screening protocol or test.