The Medical Genetics module provides knowledge of basic medical genetics and of how genetic diseases arise, as well as an understanding of human genetic...

The Medical Genetics module provides knowledge of basic medical genetics and of how genetic diseases arise, as well as an understanding of human genetic variation and the ethical implications of genetic screening.

The module uses examples of dominant, recessive, X-linked, and multifactorial disorders to explore these issues, and includes topics such as clinical diagnosis, treatment, genetic counselling, genetic screening (individual, cascade, neonatal), the relationship of genotype with phenotype, genetic variants in different populations, gene function and potential new treatments and therapies.

The module covers, but is not restricted to clinical genetics, genetics of biochemical and metabolomics disorders, immunological disorders, Xp21 dystrophies, neurodegenerative disorders, prion diseases, genetics of cleft lip and palate, cardiac genetics and associated dysmorphic syndromes, skeletal dysplasia and disorders of craniofacial development, CMT, clinical cancer genetics, triplet repeat diagnosis, haemoglobinopathies and sickle cell, chromosome imbalances, genetics of renal disorders, cystic fibrosis and molecular genetics.

After taking this module you should be able to demonstrate knowledge of:

The prevalence, incidence, penetrance, diagnosis and treatment of common genetic disorders;
	Why, who, how and when genetic testing should be carried out for a particular disorder.
The module consists of lectures, student-led group tutorial presentations on a defined genetic disorder, a genetic counselling role play session, and a case-based seminar discussion of ethical issues in genetic counselling.

Introductory Reading:

https://www.rarechromo.org/disorder-guides

http://omim.org/

https://www.gmc-uk.org/ethical-guidance/ethical-guidance-for-doctors/confidentiality/disclosures-for-the-protection-of-patients-and-others

https://www.researchgate.net/publication/320995298_Disclosure_of_genetic_information_to_relatives_Balancing_confidentiality_and_relatives'_interests