Skip to main content


BGM3060 : Diagnostic Medical Genetics

  • Offered for Year: 2020/21
  • Module Leader(s): Mr Gareth Breese
  • Lecturer: Dr Marta Bertoli, Dr Paul Brennan, Dr David Bourn, Dr Michael Wright, Dr Gavin Hudson, Dr Simon Ramsbottom, Mr John Emslie, Ms Claire Schwab, Dr Tara Montgomery, Dr Michela Guglieri, Prof. Sir John Burn, Dr Miranda Splitt, Mr Gavin Cuthbert
  • Owning School: Biomedical, Nutritional and Sports Scien
  • Teaching Location: Newcastle City Campus
Semester 1 Credit Value: 20
ECTS Credits: 10.0


1. To describe the normal human karyotype, how chromosomes behave during cell division, and how chromosome
abnormalities can occur and how they arise.
2. To familiarise the student with the aims of clinical practice, that is to reduce morbidity associated with genetic disease, and facilitate decision making through non-directive counselling.
3. To help students to understand the potential clinical implications of chromosome abnormalities, including the practical methodology involved in making, staining and analysing chromosome preparations from various tissues (including new diagnostic tests and quality control) and how molecular and cytogenetic analyses are interpreted in the clinical context, and associated limitations and risks.

Outline Of Syllabus

This module describes the organisation of Genetics services and the relationship between the diagnostic laboratories (molecular genetics and cytogenetics) and the clinical genetics service.

Our understanding of the genetic basis of human disease has grown exponentially in the last few years and will have a dramatic effect on medicine in the future. This course applies basic principles to inherited disorders and considers ways of giving information about these to families.

An introduction to DNA and chromosomes will highlight structural features which are relevant in the origin of human genetic disease and will describe the types of mutation seen. Students are shown what types of chromosome abnormality can occur and how they arise. This is with a view to helping students understand the clinical implications of chromosome abnormalities. The course includes a description of the practical methodology involved in making and staining chromosome preparations from different tissues and a web-based session in chromosome analysis.

The module will also describe various diagnostic testing strategies in use in both the Cytogenetics and Molecular
Genetics laboratory to detect mutations and to ascertain DNA copy number. And, a series of lectures focus on the clinical presentation of genetic disease and the implications for patients and their families. Finally, lectures will cover the latest understanding of non-Mendelian inheritance, pharmacogenomics and approaches to the treatment of genetic disease.

Several examples of different inheritance patterns of human diseases will be described during the module, and these will include autosomal recessive, autosomal dominant, variable expressivity and penetrance, X-linked traits such as Duchenne muscular dystrophy and Fragile X. Other topics covered in the module include mitochondrial disease, triplet repeat disorders, and imprinting with specific reference to Angelman and Prader-Willi syndromes.

The module will also considers the relevance of genetics to the susceptibility to and the onset of cancer. Under this heading topics that are discussed will include: familial adenomatous polyposis and hereditary non-polyposis colon cancer as examples of single gene disorders that cause bowel cancer; the genetic background to common and uncommon cancers including breast/ovarian cancer and Li-Fraumeni syndrome. Acquired genetic changes seen in cancer will also be discussed with particular reference to leukaemia cytogenetics.

As part of the module there will be a number of practical/tutorial sessions on chromosome analysis, drawing a pedigree while watching a video reconstruction of a consultation between a family and a geneticist, a role play of a genetic counselling scenario with the students taking the role of client and geneticist in turn, interpretation of molecular genetics diagnostic scenarios and small group discussions on ethical issues surrounding medical genetics relating to family dynamics and societal issues such as insurance, genetic testing and prenatal diagnosis.

Teaching Methods

Teaching Activities
Category Activity Number Length Student Hours Comment
Guided Independent StudyAssessment preparation and completion21:002:00N/A
Scheduled Learning And Teaching ActivitiesLecture201:0020:00N/A
Scheduled Learning And Teaching ActivitiesPractical32:006:00N/A
Guided Independent StudyIndependent study1172:00172:00N/A
Teaching Rationale And Relationship

The lectures will be used to introduce the material on the course and deliver the bulk of the knowledge required, so that students can meet the learning outcomes. The seminars and practicals will be used to re-inforce teh material and to give the material, methodolgies and ideas covered and to experience realistic case-handling scenarios.

Assessment Methods

The format of resits will be determined by the Board of Examiners

Description Length Semester When Set Percentage Comment
Written Examination1202A802 Essay questions to be answered from a choice of 4.
Other Assessment
Description Semester When Set Percentage Comment
Computer assessment1M20Blackboard based practical
Assessment Rationale And Relationship

The written paper tests the student's knowledge base, comprehension and ability to discuss the subject knowledge critically.

The computer analysis exercise, pedigree drawing and molecular genetics scenario tests application of knowledge, understanding and ability to critically evaluate and interpret a given data set. All will be Blackboard asessments which will follow corresponding practical or seminar sessions. The ‘Other assessment’ has been reviewed and as they are a
mixture of multiple choice and short answer questions then they meet current University guidelines for assessment tariff

Reading Lists