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Pharmacogenomics — Foundation Learning Guide

For a reader with no background in this area. If you have watched the Foundations film series, this follows directly from it.

The one idea to hold

Enzymes that metabolise drugs vary between people. If yours works faster or slower than average, a standard dose is the wrong dose.

What this subject does with that idea

Explains why two patients given the same dose of the same drug can have completely different outcomes.

Genotype-guided dosing has CPIC guidelines behind it. For DPYD and fluorouracil the stakes are toxicity, not efficacy.

Decision support for a qualified clinician — never autonomous diagnosis or prescribing. Every output on this page is intended to inform a clinician's judgement, not replace it.

What it cannot do

CPIC guidance covers specific gene-drug pairs. Substrate relationships outside those pairs are pharmacology, not guideline-backed dosing advice.

Stating the limit is not a disclaimer bolted on the end — it is how you tell a tool that helps from a tool that misleads.

Vocabulary you will meet

Term Plain meaning
Capability One named thing the platform can do, registered in capabilities.json
live / planned Whether a capability actually answers today, or is intended
Decision support Output that informs a clinician; it never decides
LIVE / REPRESENTATIVE / BURST Whether a demo ran now, was pre-computed, or ran on remote GPUs

Try it

The demo for this subject is A3:

.venv/bin/python scripts/run_demo.py A3

If it reports BLOCKED, the message names exactly what is missing. That is intentional — a demo that cannot run says so rather than showing you something canned.

Next

Advanced Learning Guide · Demo Guide