PharmCAT

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The Pharmacogenomic Clinical Annotation Tool

View the Project on GitHub PharmGKB/PharmCAT

Calling and Reporting on UGT1A1/atazanavir in PharmCAT

When getting returns for UGT1A1 from the caller, the reporter needs to be able to determine if the return is from phased or unphased information.

Treat *80+*28 as *28 and *80+*37 as *37

If from phased

  1. Then print the return as the diplotype
  2. For the recommendation, metabolizer status:

If from unphased

  1. Then print a list of all * alleles called with the copy number OR print “heterozygous” for all alleles with 1 copy and “homozygous” for all alleles with 2 copies in the diplotype field
  2. For the recommendation:
    • If [homozygous (2 copies) of >=1 of [*28, *6, *37, *27]
    • OR If [heterozygous (1 copy) for >= 1 [*28] AND [heterozygous (1 copy) for >=1 of [*6 , *37, *27] ]
    • OR If [heterozygous (1 copy) for >=2 of [*6 , *37, *27]
    • Then chose picker language for *80/*80
      AND use “Poor metabolizer” as metabolizer status

For all calls, phased or not, in Allele Function column of report, list the functionality for every * allele returned and go off of the spreadsheet for that.