10 posts
How to go from a whole-genome VCF to CPIC-grade star allele diplotypes for CYP2C19, CYP2D6, DPYD, TPMT and others, which callers to run, and the failure modes that make a clean-looking result wrong.
Pharmacogenomic testing resolves star alleles in about a dozen drug-metabolism genes and maps them to CPIC phenotypes. Here is what panels cover, why CYP2D6 is the hard part, and how to generate diplotype calls from your own sequencing data.
How to get pharmacogenomic (PGx) results at home, why sequencing beats the saliva-kit panels for most genes, and how to run PharmCAT, Aldy, and HLA typing over your own data without over-reading the output.
A working guide to producing star-allele diplotypes and CPIC phenotypes from your own sequencing data with PharmCAT, Cyrius, and PyPGx, and to reading a commercial PGx report critically.
Whole-genome sequencing processed with PharmCAT and Cyrius gives you more pharmacogenetic information than any branded psychiatric panel, and you keep the data. Here is how to run it and what the evidence supports.
Cash prices for pharmacogenetic panels run from about $50 to over $2,000 for largely the same gene list. Here is what drives the spread, what insurance pays, and how to derive the same star-allele calls from whole-genome data yourself.
Pharmacogenetic testing reliably predicts how you metabolize a few dozen drugs, and says almost nothing about which antidepressant will work. Here is what the genes cover, how to call the star alleles yourself from whole-genome data, and where the calls break.
A technical comparison of PGx testing companies, what their panels genotype, where they fail on CYP2D6 and DPYD, and how to produce CPIC-grade diplotype calls yourself from whole-genome sequencing.
Self-pay pharmacogenomic panels run roughly $200-$500, Medicare and commercial plans cover them only under narrow conditions, and a single whole-genome sequence answers the same questions permanently. Here is the pricing, the billing codes, and how to run the interpretation yourself.
Pharmacogenomic panels like myDNA and GeneSight genotype a short list of variants and return a color-coded report. Here is what those genes do, how to call the same star alleles yourself from whole-genome sequencing, and where the evidence stops.