Module - Genetics Genomics and Molecular Science (SLS402)


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.

Work-based learning outcomes

  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.

Work-based Competencies

Learning outcome Title Knowledge
1 1,2,3,4

Apply infection control risks in accordance with departmental protocols.

  • Protocols and requirements for hygiene and infection control related to the relevant range of investigations, including preparation, conduct and completion of investigation.
  • Protocol for hand washing and how effective hand washing contributes to control of infection.
2 1,2,3,4

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

  • The relevant health and safety regulations for laboratory and clinical investigations.
  • The specific health and safety regulations for the specialism, type of specimen/sample and investigation.
  • The potential hazards and risks and the actions to be taken to minimise these.
  • Responsibilities and scope of practice for laboratory personnel involved in performing investigations and reporting those investigations to users.
3 1,3,5,7

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

  • Minimum data set required for identification of samples and the importance of ensuring that this is complete, correct and appropriate.
  • Factors affecting sample integrity and appropriate corrective action.
  • Procedures for handling samples which may contain category 2, 3, and 4 pathogens.
  • Use of laboratory and hospital information systems to identify and record patient demographics, clinical details and relevant laboratory results.
  • The importance of maintaining correct and unique labelling, including transfer of labels throughout the preparation.
  • Process documentation relevant to sample preparation and its importance.
  • Retention policy for diagnostic materials and records of analysis.
  • Ethical guidelines for testing and storage of diagnostic materials.
  • Common reasons for referral of genetic investigations.
  • Factors to be considered to determine which processing pipeline is the most appropriate in order to generate a robust result for the patients.
4 1,2,3,4

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

  • The purpose, process, capabilities and limitations of cell culture procedures and associated equipment.
  • Cell culture, slide making and chromosome preparation techniques (G-banding) and their importance in the investigation process.
  • The purpose, process, capabilities and limitations of nucleic acid extraction procedures and associated equipment.
  • Relevant protocols and their application, including health and safety considerations.
  • Requirements for containment levels to maintain the integrity of the sample and to protect the member of staff.
  • The quality and quantity of DNA/RNA required for each test to be performed.
  • Factors affecting the quality of extractions.
  • The range and requirements for records and documentation associated with extractions.
5 1

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

  • Basic chromosome identification.
  • Karyotype construction.
  • G-banding.
  • Numerical and structural anomalies and normal variation.
  • Relationship of basic chromosomal anomalies to clinical features in patients.
  • Correct ISCN nomenclature. 
6 2

Perform a basic dosage analysis using chromosomal microarray.

  • Correct nomenclature for description of any copy number changes.
  • Principles and applications of relevant methods and techniques.
  • The principles of chromosomal microarray.
  • The significance of sensitivity and limitations of technique.
  • Relevant current quality control procedures and characteristics of substandard results.
  • Factors affecting the integrity of samples and reagents, and contamination.
  • The nature and effect of possible artefact.
  • Use of appropriate analytical software and clinically interpret findings.
7 3

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

  • Principles and applications of relevant methods and techniques.
  • The principles of PCR and sequence methods, including the significance of contamination, sensitivity and associated hazards and risks.
  • The principles of chromosomal microarray and other dosage techniques, including the significance of contamination, sensitivity and associated hazards and risks.
  • Relevant internal quality control procedures and characteristics of substandard reactions.
  • Factors affecting the integrity of samples and reagents and relevant sensitivities to conditions of cold, heat and light.
  • Principles of electrophoresis of nucleic acids.
  • Principles of radioactive and fluorescent image detection.
  • Principles of mutation detection and DNA sequencing.
  • Limitations and sensitivity of each test method.
  • The nature and effect of possible artefacts.
8 4

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

  • Analysis of results following standard laboratory procedures.
  • The clinical background and molecular pathology of the disorder being investigated.
  • The range of tests available for the individual or the family.
  • Significance of previous results in relation to the current sample.
  • Relevant professional guidelines and correct interpretation.
9 5

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

  • The importance of IQC during the entire testing process.
  • Importance of participating in EQA.
  • The development and application of national guidance.
  • Validation and verification of analytical processes and procedures.
  • Requirements for UKAS accreditation and ISO15189. 
10 6

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

  • Access, use and limitations of genome and mutation databases.
  • Importance of maintaining long-term records to inform management of heritable genetic disorders in future generations and genomic changes within an individual associated with a clinical disorder.
  • Limits and performance characteristics of each test, including instrumentation and software packages for data analysis.
11 6,7

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

  • Range of reporting formats and options.
  • Relevant professional guidelines for reporting.
  • Policy for authorisation and disclosure of results and the need for confidentiality and information governance.
  • Factors involved in evaluation of clinical risk to the patient and their family.
  • Procedures for issuing written results, verbal results or for faxing.
  • Patterns of inheritance (Mendelian and non-Mendelian), including imprinting.

Work-based assessment

Complete 1 Case-Based Discussion(s)
Complete 1 of the following DOPS and/or OCEs
Type Title
DOPS 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