Friday, May 17, 2019

My PGX results from 23andME

I'm not sure how comprehensive the variant testing is - in PGx, usually the absence of a tested variant defaults to a "normal" report - but per 23 and Me, I am "POOR" for CYP3A5 and ULTRARAPID for CYP1A2. CYP2D6, which is one of the most common enzymes, is just "normal" for me.

As far as I can tell, 23andMe provides hotlinks to the meaning of the terms (what does ultrarapid mean?) but not directa access to what drugs are relevant for that enzyme.

Caffeine is metabolized by CYP1A2 (here) but I'm very sensitive to caffeine, and with very lasting effects, so I would never intuit I was an "ultrapid metabolizer" of that one. But any one CYP gene can be pretty misleading since caffeine, like other drugs, has diverse metabolic pathways (to name just four of the alternate primary pathways they lead to theobromine, to theophylline, to 1,3,7 trimethyluric acid, and/or to 1,7 dimethylxanthing, all via different CYP combinations, here).

CYP3A5 I am a poor metabolizer, but my genotype *3*3 for that gene is a very, very common one in Caucasians (here). CYP3A5*3/*3 persons are also called CYP3A5 "non expressers" (here). "85 percent of people of European descent are CYP3A5 poor metabolizers" (here).

IFNL3 is related to HCV treatment response (here).