Genetics Genomics and Molecular Science

Module details

Title

Genetics Genomics and Molecular Science

Type

Rotation

Module code

SLS402

Credits

10

Requirement

Compulsory

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.

Competencies

#	Learning outcome	Competency	Action
# 1	Learning outcome 1,2,3,4	Competency Apply infection control risks in accordance with departmental protocols.	Action View
# 2	Learning outcome 1,2,3,4	Competency Minimise risks and hazards in compliance with health and safety policies.	Action View
# 3	Learning outcome 1,3,5,7	Competency Critically reflect on referral patterns for genetic investigation following standard laboratory practices including sample receipt.	Action View
# 4	Learning outcome 1,2,3,4	Competency Observe and assist with the preparation of samples for genetic testing.	Action View
# 5	Learning outcome 1	Competency Perform a basic chromosome analysis on a minimum of three cases that demonstrate different chromosomal syndromes or anomalies.	Action View
# 6	Learning outcome 2	Competency Perform a basic dosage analysis using chromosomal microarray.	Action View
# 7	Learning outcome 3	Competency Observe and assist with the range of laboratory methods and their application to generate genetic test results for patients.	Action View
# 8	Learning outcome 4	Competency Perform a basic molecular analysis on three cases demonstrating common genetic condition.	Action View
# 9	Learning outcome 5	Competency Apply internal quality control (IQC) and external quality assessment (EQA) methods used in genetics.	Action View
# 10	Learning outcome 6	Competency Use software for tasks related to genetic analysis. To include a general introduction to bioinformatics.	Action View
# 11	Learning outcome 6,7	Competency Support the preparation of reports and the reporting process for patients being investigated for genetic disorders.	Action View

Assessments

You must complete:

• 1 case-based discussion(s)
• 1 of the following DOPS/ OCEs:

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

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.

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

Activities

• Attend multidisciplinary team meetings at which the results of genetic and genomic investigations are discussed and reflect on discussions and the impact of multidisciplinary working on patient treatment and management, in addition to the partnership between Genetics and other clinical specialisms in the investigation of genetic and genomic disorders functions in the patient pathway.
• Attend specialist genetics clinics and review/report on the process, patient engagement and experience in connection with the work of these clinics.
• Observe cell culture and chromosome preparation techniques and reflect on their importance in the investigation process
• Gain experience of each of the following and personally reflect on the importance, application and effect on patient management:
  • Investigation of chromosomal abnormality, the correct sampling technique, relevant quality parameters and the correct use of nomenclature
  • Investigation of the molecular basis of disease, the correct sampling technique, relevant quality parameters and the correct use of nomenclature
  • Interpretation and reporting of laboratory results in the context of named genetic disorders