Title Core genetics and biology
Type Stage One
Code HLS410
Requirement Compulsory

Module objective

By the end of the training period trainees will, in respect of core genetics and biology, obtain a working knowledge of the scientific, clinical and technical aspects of genetics and 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

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:

  • an up-to-date knowledge of the general principles of human genetics including:
    • Mendelian and non-Mendelian genetic inheritance (including the relevant biology)
    • molecular genetics (including structure, function and organisation of the genome)
    • molecular cytogenetics (including copy number variation)
    • cell biology (cell division: mitosis and meiosis)
    • genetic syndromes and disorders (including acquired disorders).

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
    • foetal 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
    • use of computers and appropriate databases.

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.

Attitudes and behaviours

This module has no attitude and behaviours information.


Code Title Action
HLS4-1-20 Genetics [v1] View