Introduction to Genetics, Genomics and Molecular Science

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.

Training activities

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 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.