Wessex Genomic Medicine Centre: Predict, Prevent, Adapt

GMCWessex NHS Genomic Medicine Centre

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PREDICT, PREVENT, ADAPT

Dr Catherine Mercer

Consultant Clinical GeneticistRare Disease Lead, 100,000 Genomes Project, Wessex

February 2001

Case 1

Mutation identified: c.5999G>C, p.Cys2000Ser in Fibrillin 1

oMutation report:Heterozygous for a G to• Cascade testing to predict who is at risk

• Clinical screening to prevent catastrophic aortic root disease

Case 1

Case 2

Case 3

Familial Hypercholesterolaemia

Inherited disorder of cholesterol and lipid metabolism

50% of untreated men with FH have significant CVD by the age of 55yrs, and women develop premature CVD ~ 9yrs later

Case 3

Myocardial Infarct, aged 31 years

42 yrs TC 15

12 yrs TC 9

The UK could save £378.7 million from cardiovascular events avoided if all (100 per cent) relatives of FH index cases are identified and treated optimally over a 55 year period, or £6.9m per yearHeart UK

Many aspects of our health are determined by our genes

A molecular diagnosis is much more precise than a clinical one

Treatments can be tailored to take into account our genomic differences

Personalised medicine has the potential to improve lives and reduce costs

PREDICT, PREVENT, ADAPT

Questions?

Wessex Genomic Medicine Centre: Predict, Prevent, Adapt

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Transcript of Wessex Genomic Medicine Centre: Predict, Prevent, Adapt

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