Laboratory aspects of genetics

Details

Title

Laboratory aspects of genetics

Type

Stage One

Module code

HLS411

Requirement

Compulsory

Module objective

By the end of the training period trainees will, in respect of the genetics laboratory and its clinical interface, be able to

• analyse, synthesise, evaluate and apply knowledge
• perform 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 tests
2. Scientific quality assurance of test procedures
3. Validity and reliability of test results and their application

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:

• use of the knowledge required for:
  • diagnosis, prognosis and on-going management of patients who have a particular disorder or disease with a genetic basis or who are pregnant
  • laboratory techniques
• potential utility of new technologies in a laboratory, clinical and public health context using appropriate recognised measures, e.g. QALY
• quality assurance of test procedures and reagents including the use of reference and certified materials where appropriate
• quality assurance of reference and certified materials where appropriate.
• clinical utility
• test results and their application including use and understanding of statistical methodology.

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 of the following technical procedures and laboratory skills:

• identification and selection of appropriate starting material:
  • blood
  • buccal scrapes
  • fetal tissue from chorion villous biopsy
  • skin and other biopsy material
  • formalin fixed paraffin embedded tissues
  • bone marrow trephine and other related samples
  • cell culture, including automated techniques
  • DNA and RNA (including free-fetal)
• laboratory techniques
  • karyotyping (microscopy and semi-automated techniques)
  • FISH (Fluorescence in situ hybridisation)
  • polymerase chain reaction (PCR)
  • southern blotting
  • QF-PCR and MLPA
  • microarray technologies and complimentary copy number detection techniques e.g. q-PCR
  • nucleic acid sequencing technologies
• systems for ensuring the quality assurance of test procedures and reagents
  • use of appropriate internal controls and monitoring assay performance
  • internal quality assurance
  • external quality assurance
• validity and reliability of test results and their application
  • understanding of uncertainty of measurement
  • using 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 clinical knowledge to perform the clinical skills necessary to manage under supervision:

• counselling skills, attitudes and behaviours.