Genetics and molecular biology

Details

Title

Genetics and molecular biology

Type

Stage Two

Module code

HLS133

Requirement

Compulsory

Module objective

By the end of the training period trainees will, in respect of competencies in the clinical biochemistry of genetics and molecular biology, be able to:

• analyse, synthesise, evaluate and apply knowledge
• perform a range of technical and clinical skills and procedures
• 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.

(N.B. Items in italics would probably not be encountered universally)

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:

• the structure of nucleic acids, meiosis and mitosis
• the mode of inheritance in the following:
  • simple Mendelian and complex diseases
  • mitochondrial inheritance
• the mode of inheritance for:
  • genetic counselling, antenatal diagnosis and screening
• protein synthesis including:
  • transcription and translation
  • defects in protein synthesis arising from genetic mutations
• the molecular pathology of single gene therapy
• gene therapy.

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:

• the application of Mendelian genetics and Bayes Theorem, and the calculation of pre-and post-test probabilities in genetic counselling.

By the end of the training period trainees will, in respect of the competencies in the clinical biochemistry of genetics and molecular biology, be able to perform the clinical skills necessary to manage under supervision:

• liaison with the clinical team on the appropriate specimen collection, specimen handling, investigation, diagnosis and interpretation of genetic tests within clinical biochemistry.