Genetics Genomics and Molecular Science (SLS402)

10 credits

Aim of this module

This module will provide the trainee with an introduction to human genetics, genomics and molecular science. They will understand the organisation and delivery of a genetics and genomics laboratory service. In the work-based module, they will be expected to apply this knowledge as they learn to perform some common scientific technical methodologies used in genomics, gain an understanding of the interpretation of patient results in a variety of clinical settings and understand the impact of genomics on patients and their families.

  1. Observe and reflect on the patient pathway from sample receipt to issuing of the clinical reports for a range of genetic referrals.
  2. Observe and reflect on preparation of samples for genetic analysis in current use.
  3. Apply the correct genetic nomenclature to genetic alterations, including International System for Chromosome Nomenclature (ISCN) and Human Genome Variation Society (HGVS) nomenclature.
  4. Identify the appropriate testing strategy for a range of referral reasons.
  5. Apply the principles of internal quality control and external quality assessment and draw conclusions about assay performance.
  6. Assist with the interpretation and reporting of laboratory results in the context of named genetic disorders.
  7. Participate in activities that involve working in partnership with other clinical specialisms in the investigation of patients referred for genetic disorders.
Number Work-based learning outcome Title Knowledge
1 1,2,3,4

Apply infection control risks in accordance with departmental protocols.

2 1,2,3,4

Minimise risks and hazards in compliance with health and safety policies.

3 1,3,5,7

Critically reflect on referral patterns for genetic investigation following standard laboratory practices including sample receipt.

4 1,2,3,4

Observe and assist with the preparation of samples for genetic testing.

5 1

Perform a basic chromosome analysis on a minimum of three cases that demonstrate different chromosomal syndromes or anomalies.

6 2

Perform a basic dosage analysis using chromosomal microarray.

7 3

Observe and assist with the range of laboratory methods and their application to generate genetic test results for patients.

8 4

Perform a basic molecular analysis on three cases demonstrating common genetic condition.

9 5

Apply internal quality control (IQC) and external quality assessment (EQA) methods used in genetics.

10 6

Use software for tasks related to genetic analysis. To include a general introduction to bioinformatics.

11 6,7

Support the preparation of reports and the reporting process for patients being investigated for genetic disorders.

You must complete
1 Case-based discussion(s)
1 of the following DOPS / OCEs
Assessment Title Type
Review a referral form for genetic testing for appropriateness DOPS
Perform an analysis of the results of a molecular genetic test DOPS
Peform analysis for a sample referred for chromosome assessment DOPS
Prepare a draft genetics report DOPS

Important information

The academic parts of this module will be detailed and communicated to you by your university. Please contact them if you have questions regarding this module and its assessments. The module titles in your MSc may not be exactly identical to the work-based modules shown in the e-portfolio. Your modules will be aligned, however, to ensure that your academic and work-based learning are complimentary.

Learning Outcomes

  1. Explain nucleic acid and chromosome structure and function.
  2. Explain and apply the nomenclature used to describe the human genome.
  3. Discuss patterns of inheritance.
  4. Describe and evaluate the design, operation and performance of methods used to investigate genetic and genomic alterations associated with disease.
  5. Describe the partnership of genetics and genomics with other clinical specialisms in the investigation and management of genetic and genomic disorders and the contribution to patient care.

Indicative Content

Nucleic acid and chromosome structure and function

  • Introduction to the human genome
  • Cell biology, meiosis and mitosis
  • Chromosome structure and function
  • Mechanisms of origin of numerical and structural abnormalities, and behaviour of structural chromosome anomalies at meiosis
  • Nucleic acid structure and function, chemical structure of DNA and replication, transcription and translation 

Nomenclature used to describe the human genome

  • Current Human Genome Variation Society (HGVS) and International System for Chromosome Nomenclature (ISCN) 

Patterns of Inheritance

  • Autosomal dominant and recessive
  • X-linked
  • Non-Mendelian disorders 

Design, operation and performance of methods used to investigate genetic and genomic diseases

  • Introduction to the molecular basis of disease
  • Current laboratory techniques, specifically: PCR, DNA sequencing, chromosomal microarrays, FISH, fragment analysis, cell culture, DNA extraction from lymphocytes and chromosome analysis
  • Analytical and clinical sensitivity and specificity of these tests
  • Analysis and interpretation of genetic variation in a clinical context
  • Accurate clinical report writing
  • The use of bioinformatic tools
  • Potential application of relevant emerging technologies 

Partnership of genetics with other clinical specialisms

  • Multi-disciplinary team working
  • The impact of genomics on patients and their families