mind & bodyanalysisThe Conversation (US)

You likely have genes that affect how well your medications work – testing for them could improve treatment

the gist

Genes help decide how your body handles medicine, for instance how fast the liver breaks a drug down and how long it lingers in the blood. Analysing whole genomes and health records of nearly 100,000 people in the US All of Us programme, researchers examined 16 well-established drug-response genes. Every participant carried at least one relevant variant, and about 99.5% had one for which the FDA or medical guidelines recommend a different drug or dose for certain medications. Around 24% had already taken a drug affected by a variant they carry, including stomach-acid drugs like omeprazole and cholesterol-lowering statins. The team also found 17,704 previously unreported variants in these genes.

so what

Prescribing is still largely trial and error, with two people on the same dose getting different results. Genetic testing could steer drug and dose choice, but this study does not prove it improves outcomes, and age, kidney and liver function and other medicines matter too. Most earlier data came from people of European ancestry, so a more diverse dataset fills a real gap.

fun fact

The All of Us programme, run by the US National Institutes of Health, aims to enrol one million or more participants, with an emphasis on groups historically left out of research.

more on this

background

Pharmacogenomics, often abbreviated "PGx", is the study of the role of the genome in drug response. Its name (pharmaco- + genomics) reflects its combining of pharmacology and genomics. Pharmacogenomics analyzes how the genetic makeup of a patient affects their response to drugs. It deals with the influence of acquired and inherited genetic variation on drug response, by correlating DNA mutations (including point mutations, copy number variations, and structural variations) with pharmacokinetic (drug absorption, distribution, metabolism, and elimination), pharmacodynamic (effects mediated through a drug's biological targets), and immunogenic endpoints.

From Wikipedia: Pharmacogenomics (CC BY-SA 4.0) ↗ · text CC BY-SA 4.0

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Illustrative photo · Genomics Education Programme, CC BY 2.0, via Wikimedia Commons