Translation of Drug Metabolic Enzyme and Transporter (DMET) Genetic Variants into Star Allele Notation using SAS

Conversion of genotyping results from metabolic enzyme and transporter (DMET) genetic assays into the consensus star allele nomenclature is necessary for clinical utilization of DMET genetics. The problem involves translation of variant genotypes, such as single nucleotide polymorphisms (SNPs) or small insertion-deletion events, into gene level star allele nomenclature. Genetic variants in the DMET genes can occur in combinations. In some instances a single variant or often these combinations define a star allele. When and how these variants combine is often poorly understood. However, given adequate definitions, a simple algorithm based on vector addition and comparison can be easily implemented in SAS proc IML to perform the conversion. The simplicity and transparency of this algorithm can help de-mystify the translation process and allow statisticians and data management experts to handle this new type of patient information.