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MM20: Pharmacogenetics 2 (Steven Johnson syndrome (SE of carbamazepine…

- - - - FDA advises testing
      - 100% sensitive: every Asian who got SJS had allele
      - 13% specificity: 13% who didn't get SJS didnt have have allele
    - - applicable to more pops, more widespread
      - 25% sensitivity, 96% specificity
- - - - 2 respond to kalydeco/ivacaftor
        
        III (lack of CFTR opening)
        
        IV (misshapen CFTR pore)
        
        increases CFTR opening + conductance