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Utility of Genotyping in Pharmaceutical Target (gene) Discovery and Drug Response

Utility of Genotyping in Pharmaceutical Target (gene) Discovery and Drug Response. Anne Westcott EST-Informatics. Pharmaco-genetics/genomics. A recent interest from pharmaceutical companies 5yrs Application across both Development and Discovery. Why are we interested now?.

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Utility of Genotyping in Pharmaceutical Target (gene) Discovery and Drug Response

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  1. Utility of Genotyping in Pharmaceutical Target (gene) Discovery and Drug Response Anne Westcott EST-Informatics

  2. Pharmaco-genetics/genomics • A recent interest from pharmaceutical companies • 5yrs • Application across both Development and Discovery

  3. Why are we interested now? • Recent discovery of massive no.’s of genetic markers (SNPs, MS) • Better, cheaper tools for genotyping • Opportunity to collect and archive DNAs from populations • Research collections or clinical trial subjects

  4. Research Target identification via susceptibility gene discovery projects Association studies Development “personalised medicine” Correlating drug response with genotype Application to Disc and Dev

  5. Pharmacogenetics • Adverse events • 100 000 deaths US 1994, 2 million individuals with serious side-effects • Variability in response • 30% non-responders

  6. What is a genotype? SNP Genotype

  7. How to correlate There are 2 commonly used statistical approaches for correlating disease with genetic makeup. • Linkage • where 2 things are inherited together e.g. a SNP • and a gene always seen together. • Linkage Disequilibrium • When things don’t go as the maths or model • suggests • Association • By linkage, by haplotype, looking for transmission • disequilibrium

  8. Problems with these studies • Poorly characterised phenotypes • Small sample size (not enough DNAs) • Subgroup analysis • Random error • Poor control group • No replication • Inability to replicate • Multiple testing • Over-interpretation • Failure to detect linkage disequillibrium

  9. Sequence-based features HGP, sequence, order and orientation of clones, physical distance Trait-based info. Clinical trials data Disease status Bone density, drug response, liver enzyme levels, bronchial responsiveness Ethnic diversity From Informatics Perspective Need breadth and depth Need depth and consistency

  10. What do we need? • DNA collections • Phenotypic data about those individuals • Pedigree data (where approp) • Controls • Characterisation of disease

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