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Unit information: Genomic Medicine in 2018/19

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Unit name Genomic Medicine
Unit code SSCM30008
Credit points 20
Level of study H/6
Teaching block(s) Teaching Block 1 (weeks 1 - 12)
Unit director Dr. Westbury
Open unit status Not open

This is part of an intercalated BSc for Medical, Veterinary or Dental students



School/department Bristol Medical School
Faculty Faculty of Health Sciences


Specific clinical applications of genomic knowledge, including topics such as clinical genetics of rare disorders, genomics of cardiovascular health and disease, genomics of allergy, eczema and asthma, behavioural and psychiatric genomics, cancer genomics, genomic prognosis and precision medicine.

Intended learning outcomes

After this component of the course, students will be able to:

1) identify examples of rare Mendelian disorders and describe their genomic basis

2) critically evaluate literature describing diagnostic strategies for rare Mendelian disorders

3) recall the findings from and critically evaluate studies of genomics of several exemplar traits

4) interpret the findings and clinical utility of any genetic epidemiology study

5) describe the genomic mechanisms of cancer risk and critically evaluate the role of tumour ‘omics in the diagnosis and management of cancer

6) describe the design and recall findings from studies of genomes of micro-organisms in human health

7) critically evaluate the use of genomic information for prognosis and precision medicine

8) discuss the practical and ethical implications of genetic counselling, screening, testing and modification

9) interpret economic evaluations and discuss the economic implications of genomic medicine

10) communicate genomic risk using patient-appropriate language

Teaching details

Methods of Teaching

This unit will be delivered in the form of workshops using a variety of methods including interactive lectures, presentations, debates and seminars.

Student Input

20 contact hours, 20 hours coursework, half of a 3 hour exam, 150 hours independent study

Assessment Details

Assessment Details

70% of the unit is assessed through an end of year examination (one third of the three hour exam 'Written Paper 1', composed of multiple choice questions and/or short answer questions).

20% of the unit is assessed through an in-unit essay.

10% of the unit is assessed through an in-unit oral presentation

Reading and References

Lewin – Genes XI - 2013

Strachan and Read – Human Molecular Genetics – 4th Edition - 2010

Maller J, George S, Purcell S, Fagerness J, Altshuler D, Daly M, Seddon JM (2006) Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration. Nature Genetics 38: 1055-1059.

Wellcome Trust Case Control Consortium (2007) Genome-wide association study of 14, 000 cases of seven common diseases and 3, 000 shared controls. Nature 447: 661-678.

Frayling TM, Timpson NJ, Weedon MN, Zeggini E, Freathy RM, Lindgren CM, Perry JRB, Elliott KS, Lango H, Rayner NW, et al. (2007) A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity. Science 316: 889-894.

Zeggini E, Weedon MN, Lindgren CM, Frayling TM, Elliott KS, Lango H, Timpson NJ, Perry JRB, Rayner NW, Freathy RM, et al. (2007) Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes. Science 316: 1336-1341.

Daetwyler HD, Villanueva B, Woolliams JA (2008) Accuracy of predicting the genetic risk of disease using a genome-wide approach. PLoS ONE 3: e3395.

Hill WG, Goddard ME, Visscher PM (2008) Data and Theory Point to Mainly Additive Genetic Variance for Complex Traits. PLoS Genet 4: e1000008.

McCarthy MI, Abecasis GR, Cardon LR, Goldstein DB, Little J, Ioannidis JP, Hirschhorn JN, McCarthy MI, Abecasis GR, Cardon LR, et al. (2008) Genome-wide association studies for complex traits: consensus, uncertainty and challenges. Nat Rev Genet 9: 356-369.

Visscher PM, Hill WG, Wray NR (2008) Heritability in the genomics era--concepts and misconceptions. Nat Rev Genet 9: 255-266.

Weedon MN, Lango H, Lindgren CM, Wallace C, Evans DM, Mangino M, Freathy RM, Perry JRB, Stevens S, Hall AS, et al. (2008) Genome-wide association analysis identifies 20 loci that influence adult height. Nat Genet 40: 575-583.

GIANT consortium (2009) Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. Nature Genetics 41: 25-34.