This course is designed in collaboration with the West of Scotland Regional Genetics Service 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. The link from genotype to phenotype, will be explored, with consideration of how this knowledge might contribute to new therapeutic approaches.

Semester 1

None

Examination (50%): case analysis problem solving,

Coursework (50%): 1 data/case analysis critical report of approximately 1,200 words (15%); 1 data/case analysis critical report of approximately 1,500 words (25%) and group case investigation written report (10%).

For each 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 include critical review of relevant available technologies and their applications to the problem. 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, and provide risk assessment; 

■ explore the link from genotype to phenotype, with consideration of how this knowledge might contribute to new therapeutic approaches;

■ develop students' skills in problem solving, evaluation and interpretation of experimental 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 of clinical significance, including Duchenne muscular dystrophy, cystic fibrosis, haemoglobinopathies, triplet repeat disorders, imprinting disorders 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 critically the principles and practice of non-directive genetic counselling in relation to reproductive choices, presymptomatic, diagnostic, carrier, prenatal and preimplantation testing 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.