module specification

This module provides information and guidance to facilitate an in depth 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

None

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.

LO1-3

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.

On successful completion of this module students will be able to:

1. Demonstrate through completion of the quizzes an understanding of the processes of prenatal diagnosis by molecular biological techniques and 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 identify 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.

The module will be formatively assessed by in-course online quizzes and two coursework components. A reflective learning log (2000 words) and a written assignment (1500 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%. There are no practical sessions.

Component                      Learning outcomes

Quizzes                            1

Reflective learning log      2

Written assignment           2,3

Buckingham L, (2019).  Molecular diagnostics: fundamentals, methods, and clinical applications. Philadelphia.

Burtis CA,  Bruns DE. (2014) Tietz Fundamentals of Clinical Chemistry and Molecular Diagnostics.. Saunders

Beauchamp T, Childress JF (2013) Principles of Biomedical Ethics. OUP

Jorde LB, Carey JC, (2015)  Medical Genetics.

Mepham B (2008) Bioethics; an introduction for the biosciences. Oxford University Press.

McPherson RA, Pincus MR. (2016) Henry's clinical diagnosis and management by laboratory methods. Elsevier.

Nussbaum RMD, McInnes RR, (2015) Thompson and Thompson Genetics in Medicine. Saunders.

Buckingham L (2019) Molecular Diagnostic: fundamentals methods and clinical applications.  Elsevier Academic press.

Warford A, Presneau N (2019) Molecular Diagnostics. OUP

Strachan T, Read A. (2011) Human Molecular Genetics 4th Ed. Garland Science.