Clinical genetics

Details

Title

Clinical genetics

Type

Stage Two

Module code

HLS426

Requirement

Compulsory

Module objective

By the end of the training period trainees will, in respect of clinical genetics, understand the rationale of genetics screening and testing for clinical genetics 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 clinical genetic testing: referrals from clinical genetics cover a wide spectrum, potentially including any genetic condition where laboratory testing can aid in diagnosis, in determining carrier status, in establishing recurrence risks, and in predictive, presymptomatic or prenatal testing.
• selection and validation of appropriate genetic tests including their basis (any test from the cytogenetic/molecular genetic repertoire may be relevant depending on the referral)
  • genomic tests (conventional chromosomal analysis, aCGH, whole genome or exome sequencing)
  • sequencing of gene panels or single genes
  • targeted tests (FISH, MLPA, sequencing, PCR fragment analysis, Southern blotting)
• selection and use of appropriate samples
  • sample types
  • sample volumes
  • transportation/storage issues
• the timeliness of tests in the context of the specific test requested, including prenatal and presymptomatic testing
• scientific quality assurance of test procedures
  • test validation
  • quality control measures
  • internal/external quality assurance
• validity and reliability of test results and their application
  • document control/process records
  • audit
  • value of user feedback and interaction
• 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 entire test repertoire
  • genomic tests
  • sequencing of gene panels or single genes
  • targeted tests
• 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 clinical 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 across the entire spectrum of genetic tests
• 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
  • advise on the interpretation of results and any further follow-up testing