module specification

BM7109 - Introduction to Clinical Genetics (2016/17)

Module specification Module approved to run in 2016/17
Module title Introduction to Clinical Genetics
Module level Masters (07)
Credit rating for module 20
School School of Human Sciences
Total study hours 200
200 hours Scheduled learning & teaching activities
Assessment components
Type Weighting Qualifying mark Description
In-Course Test 20%   On-line Quizzes (200 words)
Coursework 40%   Reflective learning log (800 words)
Coursework 40%   Written assignment (ECA) (1000 words)
Running in 2016/17

(Please note that module timeslots are subject to change)
Period Campus Day Time Module Leader
Year LMET Distance Learning Not applicable -

Module summary

This module provides information and guidance to faciliatate an indepth understanding and knowledge of the theory and practical applications of clinical genetics. It explains UK NHS current approaches to clinical genetics and explores how cutting edge research in this field may impact human health and disease management in the future.

Module aims

The aims of this module are aligned with the qualification descriptors within the Quality Assurance Agency’s Framework for Higher Education Qualifications.  To provide, through in depth study, knowledge and understanding of the theory and practical applications of clinical genetics and reinforce analytical, evaluative and communication skills. The modeule will enable students to research a topical issue in depth and present it at an appropriate level and reflect on the topics studied and their application in biomedical practice.


Review of the basis of pedigree drawing, risk assessment, risk assessment.
Study dysmorphology, chromosome analysis, and biochemical analysis.
Prenatal diagnosis, reproductive genetic counselling, prenatal sampling.
DNA techniques Southern blotting through to PCR and microarrays.
Avoidance and prevention of disease, gene therapy and ethical and social issues in clinical genetics.

Learning and teaching

Information pertaining to the subject matter will be presented through an integrated programme of lectures and supporting exercises, together with some use of a problem-based learning approach and the guided use of student-centred learning resources.  Lectures will be used to provide a conceptual framework.  Student centred assignments will enable students to reinforce and expand their knowledge, and develop subject specific skills and competence.

Learning outcomes

On successful completion of this module students will be able to:
1. Demonstrate an understanding of the processes of prenatal diagnosis by
molecular biological techniques and the how risk to progeny is assessed and communicated and show an understanding of complex molecular techniques and when they should be applied in a clinical genetic setting.
2. Apply critical thinking to the analysis of clinical genetic problems with respect
to identification of disease genes and show an appreciation of the sensitive ethical and social considerations required when advising parents in clinical genetics context.
3. Demonstrate through the reflective learning journal that they have reflected on their own performance as an independent professional learner.

Assessment strategy

The module will be formatively assessed by in-course online quizzes (20%) and two coursework components. A reflective learning log (800 words)(40%) and a written assignment (40%; 1000 words). Criteria for assessment will include an understanding of the subject matter; an ability, both orally and written, to explain, describe and discuss the work; completeness and conciseness of written reports and essays with emphasis upon critical ability and scientific rigour. To pass the module students need to achieve a minimum aggregate mark of 50%.

Component Learning outcomes
Quizzes 1
Reflective learning log 2
Written assignment 2,3



Buckingham L, Flaws ML. (2007.  Molecular diagnostics: fundamentals, methods, and clinical applications. Philadelphia.
Burtis CA, Ashwood ER, Bruns DE. (2007) Tietz Fundamentals of Clinical Chemistry 6th Ed. Saunders.
Burtis CA, Ashwood ER, Bruns DE. (2006) Tietz Textbook of Clinical Chemistry and Molecular Diagnostics. 4th Ed. Saunders.
DeGrazia D, Mappes T, Ballard J. (2010) Biomedical Ethics 7th Ed. McGraw-Hill.
Jorde LB, Carey JC, Bamshad MJ. (2010)  Medical Genetics.
Mepham B (2008) Bioethics; an introduction for the biosciences. Oxford University Press.
McPherson RA, Pincus MR. (2007) Henry's clinical diagnosis and management by laboratory methods. Elsevier.
Nussbaum RMD, McInnes RR, Willard HF. (2007) Thompson and Thompson Genetics in Medicine. Saunders.
Patrinos GP, Ansorge W. (2005) Molecular Diagnostics.  Elsevier Academic press. 
Runge MS. (2006) Principles of Molecular Medicine 2nd Ed. Humana Press. 
Strachan T, Read A. (2011) Human Molecular Genetics 4th Ed. Garland Science.
Young ID. (2010) Medical Genetics 2nd Ed. Oxford University Press.