Cardiac genetics

Details

Title

Cardiac genetics

Type

Stage Two

Module code

HLS422

Requirement

Compulsory

Module objective

By the end of the training period trainees will, in respect of cardiac genetics, understand the rationale of genetics screening and testing for cardiology 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

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 and validation of appropriate screening protocols

• selection criteria for targeted genetic screening in inherited cardiac conditions
  • clinical features
  • results of other pathology testing
  • family history
  • care pathways

Selection and validation of appropriate tests

• selection and validation of appropriate genetic tests including their basis
  • whole genome or exome (DNA sequencing)
  • gene panel (DNA sequencing)
  • single gene (DNA sequencing)
  • targeted tests (FISH, PCR fragment analysis, DNA sequencing, MLPA)

Selection and use of appropriate samples

• selection and use of appropriate samples
  • sample types
  • sample volumes
  • transportation/storage issues

Timeliness of tests

• timeliness of tests in the context of cardiology/sudden adult death

Scientific quality assurance of test procedures

• scientific quality assurance of test procedures
  • test validation
  • quality control measures
  • internal/external quality assurance

Validity and reliability of test results and their application

• validity and reliability of test results and their application
  • document control/process records
  • audit
  • value of user feedback and interaction

Costs of tests

• costs of tests (equipment, consumables and associated staffing costs).

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 (DNA sequencing)
  • gene panel (DNA sequencing)
  • single gene (DNA sequencing)
  • targeted tests (FISH, DNA sequencing, MLPA)
• systems for ensuring the quality 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
  • using available IT systems/laboratory database to produce timely, accurate and relevant laboratory reports with appropriate interpretative comments
  • use of bioinformatics resources to assess pathogenicity
  • calculation of recurrence risks
  • calculation of risks to relatives.

By the end of the training period the trainee will be able to apply knowledge of cardiac 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
• ethical issues raised by testing in inherited cardiac conditions (for example predictive testing)
• best practice guidelines and disease-specific databases in interpretation and reporting of results
• genetic tests required to investigate the risk to a patient as a result of:
  • a particular family history
  • a particular clinical phenotype
• interpretation of results and any further follow-up testing