Wessex Genomic Medicine Centre: Predict, Prevent, Adapt

GMCWessex NHS Genomic Medicine Centre

TTCTGTTCATTTGCATAGGAGATAATCATAGGAATCCCAAATTAATACACTCTTGTGCTGACTTACCAGATGGGACACTCTAAGATTTTCTGCATAGCATTAATGACATTTTGTACTTCTTCAACGCGAAGAGCAGATAAATCCATTTCTTTCTGTTCCAATGAACTTTAACACATTAGAAAAACATATATATATATCTTTTTAAAAGGTTTATAAAATGACAACTTCATTTTATCATTTTAAAATAAAGTAAATTTAAGATTTGGAAGGTTTTAGAATATTCTAAAACCTTCCAAATCTTAAATTTACTTTATTTTAAAATGATAAAATGAAGTTGTCATTTTATAAACCTTTTAAAAAGATATATATATATGTTTTTCTAATGTGTTAAAGTTCATTGGAACAGAAAGAAATGGATTTATCTGCTCTTCGCGTTGAAGAAGTACAAAATGTCATTAATGCTATGCAGAAAATCTTAGAGTGTCCCATCTGGTAAGTCAGCACAAGAGTGTATTAATTTGGGATTCCTATGATTATCTCCTATGCAAATGAACAGAATTGACCTTACATACTAGGGAAGAAAAGACATGACTTGAGGCCTTATGTTGACTCAGTCATAACAGCTCAAAGTTGAACTTATTCACTAAGAATAGCTTTATTTTTAAATAAATTATTGAGCCTCATTTATTTTCTTTTTCTCCCCCCCTACCCTGCTAGTCTGGAGTTGATCAAGGAACCTGTCTCCACAAAGTGTGACCACATATTTTGCAAGTAAGTTTGAATGTGTTATGTGGCTCGAT

PREDICT, PREVENT, ADAPT

Dr Catherine Mercer

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







February 2001



Case 1



Case 1





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 2





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

















Adapt







PREDICT, PREVENT, ADAPT

Questions?

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Wessex Genomic Medicine Centre: Predict, Prevent, Adapt