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Session: 2022/23

Last modified: 04/03/2022 15:10:30

Title of Module: Clinical Genetics

Code: BIOL10018 SCQF Level: 10
(Scottish Credit and Qualifications Framework)
Credit Points: 20 ECTS: 10
(European Credit Transfer Scheme)
School:School of Health and Life Sciences
Module Co-ordinator:Robin  Freeburn

Summary of Module

This module will take an in depth look at the molecular basis, screening, investigation and treatment of genetic diseases. The course will cover broad aspects of genetics which relate to medical technologies and diagnostics but will also cover relevant areas of basic human genetics to ensure students gain a comprehensive overview of the role of genetics in human disease.

It will give the students an excellent grounding in human genomics and the new technology developments in clinical genetics which underpin medical treatments and screening programmes. It aims to explore the effects of mutation and variation in the current techniques used in NHS genetics laboratory diagnostics and recent technological developments in diagnostics such as microarray analysis and next-generation sequencing.


Module Delivery Method
Face-To-FaceBlendedFully OnlineHybridCHybridOWork-based Learning
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Term used to describe the traditional classroom environment where the students and the lecturer meet synchronously in the same room for the whole provision.

A mode of delivery of a module or a programme that involves online and face-to-face delivery of learning, teaching and assessment activities, student support and feedback. A programme may be considered “blended” if it includes a combination of face-to-face, online and blended modules. If an online programme has any compulsory face-to-face and campus elements it must be described as blended with clearly articulated delivery information to manage student expectations

Fully Online
Instruction that is solely delivered by web-based or internet-based technologies. This term is used to describe the previously used terms distance learning and e learning.

Online with mandatory face-to-face learning on Campus

Online with optional face-to-face learning on Campus

Work-based Learning
Learning activities where the main location for the learning experience is in the workplace.

Campus(es) for Module Delivery
The module will normally be offered on the following campuses / or by Distance/Online Learning: (Provided viable student numbers permit)
Paisley:Ayr:Dumfries:Lanarkshire:London:Distance/Online Learning:Other:




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Term(s) for Module Delivery
(Provided viable student numbers permit).
Term 1


Term 2check markTerm 3


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Learning Outcomes: (maximum of 5 statements)

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

L1. Detailed knowledge and understanding of the genetic basis of selected human genetic diseases.

L2. Critically analyse the investigative and diagnostic techniques used in clinical genetics.

L3. Demonstrate knowledge and understanding of emerging genetic therapies for selected human disease.

L4. To critically discuss the consequences and ethical issues associated with genetic screening and testing at both an individual and population level.

Employability Skills and Personal Development Planning (PDP) Skills
SCQF Headings During completion of this module, there will be an opportunity to achieve core skills in:
Knowledge and Understanding (K and U) SCQF Level 10.

Demonstrate a broad knowledge in the effects of mutations and genetic variation in human disease.
Demonstrate a critical understanding of the principal concepts underpinning current techniques used in NHS genetics laboratory diagnostics.

Practice: Applied Knowledge and Understanding SCQF Level 10.

Use the theoretical knowledge gained to perform appropriate techniques relevant to genetics and molecular biology.
Analyse results in the context of the theoretical underpinning of applying genomic techniques to clinical diagnosis.

Generic Cognitive skills SCQF Level 10.

Critically analyse the techniques, applications and implications, including ethical issues, of an application of genetic technology in a medical context.

Communication, ICT and Numeracy Skills SCQF Level 10.

Communicate effectively orally and in writing. Analyse and interpret data where appropriate. Use IT to retrieve information.

Autonomy, Accountability and Working with others SCQF Level 10.

Working in teams and individually to perform laboratory work.
Research and present information that will require time management, organisational skills and an understanding of professional practice.

Pre-requisites: Before undertaking this module the student should have undertaken the following:
Module Code:
Module Title:
Molecular & Cellular Pathology
Core Biomedical Science
Other:or equivalent
Co-requisitesModule Code:
Module Title:

* Indicates that module descriptor is not published.

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Learning and Teaching
Delivery of this module will use a blended learning approach. Core theory and concepts will be delivered using formal lectures and tutorials where student participation will be expected. Students will acquire key practical skills by performing techniques use in DNA technology such as PCR and gene cloning in the laboratory sessions. The concepts of these techniques will be reinforced by analysing and presenting the data including answering focused questions on the concept of the techniques. Students will develop skills of computer based information retrieval as they are required to search through relevant databases to retrieve data and generate integrated information about a genetic disorder, as an introduction to the subject of Bioinformatics. Enquiry based learning will be used to explore topical issues in DNA technology from a medical perspective. This will enhance skills of gathering information, critically analysing including ethical issues and presenting it. Working in groups will develop organisational and time management skills.
Learning Activities
During completion of this module, the learning activities undertaken to achieve the module learning outcomes are stated below:
Student Learning Hours
(Normally totalling 200 hours):
(Note: Learning hours include both contact hours and hours spent on other learning activities)
Lecture/Core Content Delivery18
Laboratory/Practical Demonstration/Workshop6
Tutorial/Synchronous Support Activity6
Asynchronous Class Activity6
Independent Study164
200 Hours Total

**Indicative Resources: (eg. Core text, journals, internet access)

The following materials form essential underpinning for the module content and ultimately for the learning outcomes:

Medical genetics - An integrated approach. G. Bradley Schaefer, James N. Thompson, Jr. McGraw Hill Education. ISBN-13: 978-0071664387, ISBN-10: 9780071664387

Genetics: A Conceptual Approach (5th Edition). Pierce B. Freeman. ISBN: 9781464109461

New Clinical Genetics (3rd edition). A. Read and D. Donnai. Scion Publishing. ISBN 9781907904677

The module will also make extensive use of up-to-date journal articles in the area of Clinical and Medical genetics, including journal titles such as Nature Review Genetics, Genome Research, PLoS Genetics, American Journal of Human Genetics.

(**N.B. Although reading lists should include current publications, students are advised (particularly for material marked with an asterisk*) to wait until the start of session for confirmation of the most up-to-date material)

Engagement Requirements

In line with the Academic Engagement Procedure, Students are defined as academically engaged if they are regularly engaged with timetabled teaching sessions, course-related learning resources including those in the Library and on the relevant learning platform, and complete assessments and submit these on time. Please refer to the Academic Engagement Procedure at the following link: Academic engagement procedure

Where a module has Professional, Statutory or Regulatory Body requirements these will be listed here:
In line with the Academic Engagement and Attendance Procedure, Students are defined as academically engaged if they are regularly engaged with timetabled teaching sessions, course-related learning resources including those in the Library and on the VL, and complete assessments and submit these on time. Please refer to the Academic Engagement and Attendance Procedure at the following link: Academic engagement and attendance procedure

For the purposes of this module, academic engagement equates to the following:

Attendance at synchronous sessions (lectures, workshops and tutorials) completion of asynchronous activities, and submission of assessments to meet the learning outcomes of the module.

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Supplemental Information

Programme BoardBiological Sciences and Health
Assessment Results (Pass/Fail) No
Subject PanelBiology L7-11
ModeratorGary Boyd
External ExaminerD Stobo
Accreditation DetailsThis module is part of the BSc (Hons) Biomedical Science programme; accredited by Institute of Biomedical Science (IBMS) and approved by Health & Care Professions Council (HCPC) as
Version Number


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Assessment: (also refer to Assessment Outcomes Grids below)
Two class tests worth 50% of the module mark.
Coursework worth 50% of the module mark.
(N.B. (i) Assessment Outcomes Grids for the module (one for each component) can be found below which clearly demonstrate how the learning outcomes of the module will be assessed.
(ii) An indicative schedule listing approximate times within the academic calendar when assessment is likely to feature will be provided within the Student Handbook.)

Assessment Outcome Grids (Footnote A.)

Component 1
Assessment Type (Footnote B.) Learning Outcome (1) Learning Outcome (2) Learning Outcome (3) Learning Outcome (4) Weighting (%) of Assessment ElementTimetabled Contact Hours
Class test (written)check markcheck markcheck mark 502

Component 2
Assessment Type (Footnote B.) Learning Outcome (1) Learning Outcome (2) Learning Outcome (3) Learning Outcome (4) Weighting (%) of Assessment ElementTimetabled Contact Hours
Case study   check mark250
Workbook/ Laboratory notebook/ Diary/ Training log/ Learning log  check markcheck mark250
Combined Total For All Components100% 2 hours

A. Referred to within Assessment Section above
B. Identified in the Learning Outcome Section above

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  1. More than one assessment method can be used to assess individual learning outcomes.
  2. Schools are responsible for determining student contact hours. Please refer to University Policy on contact hours (extract contained within section 10 of the Module Descriptor guidance note).
    This will normally be variable across Schools, dependent on Programmes &/or Professional requirements.

Equality and Diversity
In line with current legislation (Equality Act, 2010) and the UWS Equality, Diversity, and Human Rights Code, our modules are accessible and inclusive, with reasonable adjustment for different needs where appropriate. Module materials comply with University guidance on inclusive learning and teaching, and specialist assistive equipment, support provision and adjustment to assessment practice will be made in accordance with UWS policy and regulations. Where modules require practical and/or laboratory based learning or assessment required to meet accrediting body requirements the University will make reasonable adjustment such as adjustable height benches or assistance of a ‘buddy’ or helper.
Please refer to the UWS Equality and Diversity Policy at the following link: UWS Equality and Diversity Policy

UWS Equality and Diversity Policy
(N.B. Every effort will be made by the University to accommodate any equality and diversity issues brought to the attention of the School)

2014 University of the West of Scotland

University of the West of Scotland is a Registered Scottish Charity.

Charity number SC002520.