Course Catalogue

View Specification Document | Reading List

This course is designed in collaboration with the West of Scotland Genetics Service to give students a working knowledge of the principles and practice of Clinical Genetics which will allow them to evaluate, choose and interpret appropriate genetic investigations for individuals and families with genetic disease. Implications of diagnostic test results will be explored, together with consideration of genetic risk for patients and their families.

Semester 1

None

Examination (50%): case-based short answer problem solving including risk calculations,

Coursework (50%): 1 data/case analysis critical report of approximately 1,500 words (30%); and group case investigation written report (20%).

For the data/case analysis report students will be provided with diagnostic data from the laboratory for which they must make interpretations as fully as possible, including evaluating the data obtained against limitations in the testing method used, with reference to the literature; students will be expected to consider particular issues that might arise in a counselling situation in relation to the results. For the group investigation each group will be provided with a test result (eg for a fetus or a child) and on the basis of this the group will decide on appropriate additional testing for which to request results, in order to be able to generate a group case report that is suitably referenced to the literature.

The aims of this course are to:

■ give students a working knowledge of the principles and practice of Medical Genetics which will allow them to evaluate, choose and interpret appropriate genetic investigations for individuals and families with genetic disease; 

■ enable students to develop skills in genetic risk assessment and explore the implications of genetic test results for patients and their families;

■ develop students' skills in problem solving, evaluation of data, literature searches, scientific writing, oral presentations and team-working.

By the end of this course students will be able to:

■ critically discuss, with reference to the literature, the molecular basis of inherited diseases, including Duchenne muscular dystrophy, cystic fibrosis, haemoglobinopathies, triplet repeat disorders, imprinting disorders, cardiac disease, mitochondrial disease, multifactorial disease and cancer;

■ explain the behaviour of abnormal chromosomes during meiosis and discuss the results expected, with particular reference to potential gametes and likely consequences for the resultant embryos;

■ critically discuss and evaluate, with reference to the literature, the genetic laboratory diagnostic techniques that are currently used, or may be used in future, in order to provide clinical consultants with the best information for their patients;

■ select appropriate diagnostic tests for patients described in clinical scenarios and evaluate and interpret data from such laboratory diagnostic tests;

■ discuss and critically evaluate the strategies which may be employed to identify whether genetic variants are benign (polymorphisms) or pathogenic;

■ describe, interpret and apply the HGVS and ISCN nomenclature systems for DNA alterations and chromosomal aberrations / abnormal karyotypes;

■ critically discuss, evaluate, and use appropriate methods for providing risk assessment in clinical case scenarios;

■ discuss the use of non-directive genetic counselling for families affected by genetic disorders, with consideration of ethical issues and a sensitivity to potential conflicts of confidentiality and differences in cultural and religious attitudes;

■ work as part of a team to set and accomplish objectives.

Students must submit at least 75% by weight of the components (including examinations) of the course's summative assessment.