Module information

Module details

Title
Introduction to Genetics, Genomics and Molecular Science
Type
Rotation
Module code
S-G-R1
Credits
10
Phase
1
Requirement
Compulsory

Aim of this module

This module will provide the trainee with an introduction to human genetics, genomics and molecular science. They will appreciate the organisation and delivery of a genetics and genomics laboratory service and the process for the analysis, interpretation and reporting of the patient’s results.

Work-based content

Training activities

# Learning outcome Training activity Type Action
# 1 Learning outcome 1,2,3,6 Training activities

Attend a meeting reflective of a key role of a Genomics Clinical Scientist, and reflect on the meeting

Type OTA Action View
# 2 Learning outcome 1,2,3,6 Training activities

Shadow a Genomics Clinical Scientist, and reflect on their role

Type OTA Action View
# 3 Learning outcome 1,2,3,6 Training activities

Observe the analysis of patient results, and reflect on the analysis process

Type OTA Action View
# 4 Learning outcome 1,2,3,6 Training activities

Follow the sample processing pathway from receipt to analysis, and reflect on the pathway

Type OTA Action View
# 5 Learning outcome 1,3,4,6 Training activities

Explore an innovation in Genomics Sciences, and reflect on the impact this will have on practice

Type OTA Action View
# 6 Learning outcome 1,3,5,6 Training activities

Review the effect of current guidelines on the delivery Genomics services and reflect on how this guides practice

Type OTA Action View
# 7 Learning outcome 1,2,3,6 Training activities

Shadow a Genetic Technologist, and reflect on their role

Type OTA Action View
# 8 Learning outcome 1,2,3,6 Training activities

Follow the reporting pathway through report preparation, authorisation and dispatch, and reflect on the pathway

Type OTA Action View
# 9 Learning outcome 1,2,3,6 Training activities

Observe the triage process for new referrals, and reflect on the process

Type OTA Action View
# 10 Learning outcome 1,2,3,6 Training activities

Observe the quality management system for genomic services, and reflect on the system and its impact on practice

Type OTA Action View

Assessments

Complete 1 Case-Based Discussion

Complete 1 DOPS or OCE

Direct Observation of Practical Skills Titles

  • Review a referral for appropriateness.
  • Generate a basic report.
  • Perform analysis of the results of a molecular genetic test.
  • Perform analysis for a sample referred for chromosome assessment.

Observed Communication Event Titles

  • Gather patient history relevant to the specialty from a patient, patient representative, or a member of the multidisciplinary team.
  • Present a patient history relevant to the specialty to another member of the multidisciplinary team.

Learning outcomes

# Learning outcome
1

Explore the contribution of Clinical Genomics to patient care.

2

Identify the roles and relationships of the multidisciplinary team in Clinical Genomics.

3

Describe the working practices of Clinical Genomics.

4

Examine the impact of innovation in Clinical Genomics.

5

Review the effect of legislation in Clinical Genomics.

6

Compare and contrast the practice of Clinical Genomics with other specialties.

Clinical experiences

Activities

Information:

There is no clinical experiential learning associated with this module.

Academic content (MSc in Clinical Science)

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

On successful completion of this module the trainee will be able to:

  1. Explain nucleic acid and chromosome structure and function.
  2. Explain and apply the nomenclature used to describe the human genome.
  3. Apply integrative knowledge of 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

  • 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.
  • Current Human Genome Variation Society (HGVS) and International System for Chromosome Nomenclature (ISCN).
  • Patterns of inheritance, including: autosomal dominant and recessive, x-linked and non-Mendelian disorders.
  • Introduction to the molecular basis of disease.
  • Current laboratory techniques used in genomics, 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.
  • Appreciate the role of bioinformatic tools in variant analysis.
  • Potential application of relevant emerging technologies.
  • Multidisciplinary team working.
  • The impact of genomics on patients and their families.

Module assigned to

Specialties

Specialty code Specialty title Action
Specialty code SLS4-1-22 Specialty title Genomics [2022] Action View
Specialty code SLS1-1-22 Specialty title Clinical Biochemistry [2022] Action View
Specialty code SLS1-2-22 Specialty title Haematology & Transfusion Science [2022] Action View
Specialty code SLS1-3-22 Specialty title Clinical Immunology [2022] Action View
Specialty code SLS1-4-22 Specialty title Histocompatibility & Immunogenetics [2022] Action View
Specialty code SLS3-1-22 Specialty title Embryology [2022] Action View
Specialty code SLS3-2-22 Specialty title Andrology [2022] Action View
Specialty code SLS4-2-22 Specialty title Genomic Counselling [2022] Action View
Specialty code SBI1-1-22 Specialty title Clinical Bioinformatics Genomics [2022] Action View
Specialty code SLS1-1-23 Specialty title Clinical Biochemistry [2023] Action View
Specialty code SBI1-1-23 Specialty title Clinical Bioinformatics Genomics [2023] Action View
Specialty code SLS3-2-23 Specialty title Andrology [2023] Action View
Specialty code SLS1-3-23 Specialty title Clinical Immunology [2023] Action View
Specialty code SLS3-1-23 Specialty title Embryology [2023] Action View
Specialty code SLS4-2-23 Specialty title Genomic Counselling [2023] Action View
Specialty code SLS4-1-23 Specialty title Genomics [2023] Action View
Specialty code SLS1-2-23 Specialty title Haematology & Transfusion Science [2023] Action View
Specialty code SLS1-4-23 Specialty title Histocompatibility & Immunogenetics [2023] Action View
Specialty code SLS1-1-24 Specialty title Clinical Biochemistry [2024] Action View
Specialty code SBI1-1-24 Specialty title Clinical Bioinformatics Genomics [2024] Action View
Specialty code SLS1-3-24 Specialty title Clinical Immunology [2024] Action View
Specialty code SLS4-2-24 Specialty title Genomic Counselling [2024] Action View
Specialty code SLS4-1-24 Specialty title Genomics [2024] Action View
Specialty code SLS1-2-24 Specialty title Haematology & Transfusion Science [2024] Action View
Specialty code SLS1-4-24 Specialty title Histocompatibility & Immunogenetics [2024] Action View
Specialty code SLS3-2-24 Specialty title Andrology [2024] Action View
Specialty code SLS3-1-24 Specialty title Embryology [2024] Action View