LONDON METROPOLITAN UNIVERSITY
Module Specification template
Section One: ABOUT THE MODULE
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Module title
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Module code
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Module level and credit rating
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Faculty
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School/Subject Discipline
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Teaching locations
northnorth
Introduction to Clinical Genetics
BMP109DL
Level 7Level 7
2020
Life SciencesLife Sciences
School of Human SciencesSchool of Human Sciences
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Teaching period
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Pattern of attendance
Required prior learning
Module description
BMP109DL
Introduction to Clinical Genetics
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.
Semester: Autumn, Spring, Summer (20 credit)
Required prior Learning:
Assessment: Quizzes (200 words) (20%), reflective learning log (800 words) (40%), coursework (1000
words) (40%)
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.
Module learning outcomes
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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.
Indicative syllabus – for full details see section C in Module Booklet
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.
Indicative bibliography and key on-line resources – for full details see section D in Module Booklet
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.
Learning and Teaching strategy for the module including approach to blended learning, students’ study
responsibilities and opportunities for reflective learning/pdp
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.
Indicative learning and teaching hours for the module. Learning hours comprise face-to-face and virtual
contact hours plus self-managed and directed learning and time spent on placements (where relevant).
Method
Description and percentage of learning hours
Scheduled learning and teaching activities
Guided independent study
200 (100%)
TOTAL LEARNING HOURS FOR THE
200
MODULE
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%.
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Component
Learning outcomes
Quizzes
1
Reflective learning log
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Written assignment
2,3
Arrangements for formative and summative feedback
Written feedback on the coursework will be given at the end of the module
Description of assessment items
Assessment
Method
Practical
ExamPractical
Exam
CourseworkCour
sework
CourseworkCour
sework
Description of Item
%
weighting
Week
Due
On-line Quizzes (200 words)
20
Reflective learning log (800 words)
40
12
Written assignment (ECA) (1000 words)
40
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Section Two: FACULTY USE
20 Nominated External Examiner
21 Nominated Module Leader at time of approval
22 Courses to which this module contributes and
whether Core or Option
If not pass on aggregate,
explain what is required to
pass the module
Dr Una Fairbrother
Section Three: OFFICIAL USE AND CODES – responsibility for completion is as indicated
23 Original date of approval (QEU)
24 Module approved to run from (QEU)
25 Revision date (specify cohort) (QEU)
26 Module specification version number (QEU)
27 SITS Mark Scheme (Academic Registry)
28 Subject Standards Board Name (Academic
Registry)