04Education / Pharmacogenomics

Why a saliva sample changes the right starting dose.

Pharmacogenomics is the part of medicine that says: the right drug at the right dose for one patient is the wrong drug at the wrong dose for the next, and the difference is sometimes a single base in a single gene. Here is the short version of the genes we screen for in GeneRx, and why each one shows up in the dosing algorithm.

10+
actionable PGx genes per CPIC
~25%
of common drugs metabolized by CYP2D6
1–6%
of obesity is monogenic via MC4R

CYP2D6 Cytochrome P450 2D6

Drug metabolism (Phase I)
CPIC level A
What it does

Metabolizes ~25% of all clinically used drugs. Activity ranges from poor metabolizer to ultra-rapid metabolizer based on copy number and SNP combinations.

Variants we screen

*1 (normal), *2 (normal), *4 (no function), *10 (decreased), *17 (decreased), *xN (increased copies)

Why it matters here

Determines starting dose and avoidance of certain co-prescribed antidepressants and opioids. Relevant when combining peptide therapy with SSRIs/SNRIs or pain medications.

CYP2C19 Cytochrome P450 2C19

Drug metabolism (Phase I)
CPIC level A
What it does

Metabolizes PPIs, clopidogrel, and several psychotropics. Phenotype distribution varies dramatically by ancestry.

Variants we screen

*1 (normal), *2 (no function), *3 (no function), *17 (rapid)

Why it matters here

PPI dose adjustments matter when peptide therapy causes reflux. Clopidogrel response gating is relevant for cardiovascular comorbidities.

MTHFR Methylenetetrahydrofolate reductase

One-carbon metabolism
Internal — not an FDA dosing requirement
What it does

Converts 5,10-MTHF to 5-MTHF — the bioactive folate form needed for DNA methylation and homocysteine clearance.

Variants we screen

C677T (677C>T → A222V), A1298C (1298A>C → E429A)

Why it matters here

C677T homozygotes have ~30% reduced enzyme activity. Affects folate dosing decisions when supporting peptide therapy with B-vitamin protocols and informs cardiovascular risk stratification.

COMT Catechol-O-methyltransferase

Catecholamine metabolism
Internal
What it does

Degrades dopamine, norepinephrine, and epinephrine. Val158Met variant changes enzyme thermostability ~3–4×.

Variants we screen

Val/Val (fast), Val/Met (intermediate), Met/Met (slow)

Why it matters here

Met/Met patients can have higher prefrontal dopamine tone — relevant when interpreting energy and mood changes during GLP-1 induction. Also informs PT-141 response.

GLP1R GLP-1 receptor

Incretin signaling
Internal — research grade
What it does

The actual binding target of all GLP-1 drugs. Coding variants change receptor surface expression and downstream cAMP signaling.

Variants we screen

rs6923761 (Gly168Ser), rs10305420 (Pro7Leu)

Why it matters here

rs6923761 G allele carriers have shown altered GLP-1 response in multiple trials — a meaningful signal when picking semaglutide vs tirzepatide and when planning the titration curve.

MC4R Melanocortin-4 receptor

Hypothalamic appetite regulation
Internal — and FDA-relevant for setmelanotide eligibility
What it does

Critical satiety signaling node. Loss-of-function variants are the most common monogenic cause of obesity (~1–6% prevalence).

Variants we screen

Multiple loss-of-function and gain-of-function variants

Why it matters here

LoF carriers may need different dosing logic, and PT-141 (an MC4R agonist) response is heavily variant-dependent. Detection routes patients to setmelanotide-aware specialist care when warranted.

GIPR Glucose-dependent insulinotropic polypeptide receptor

Incretin signaling
Internal
What it does

GIP arm of dual-agonist therapy (tirzepatide). Variants affect insulin secretion and adiposity signaling.

Variants we screen

rs1800437 (Glu354Gln), rs10423928

Why it matters here

Helps decide whether the GIP arm of a dual agonist is contributing — informs whether to escalate tirzepatide vs switch to GLP-1 mono.

CPIC = Clinical Pharmacogenetics Implementation Consortium. DPWG = Dutch Pharmacogenetics Working Group. Both publish dosing recommendations validated against clinical outcomes.

Variants flagged "Internal" are ones we use in our protocol but that have not yet reached a formal CPIC/DPWG dosing recommendation. We disclose the strength of evidence for each one in the GeneRx report itself.