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All of Us study finds thousands of new genetic variants affecting drug responses

By · Via STAT Health · Published by Everything Blog

In short

The study examined 16 specific pharmacogenes, determining that one out of every four individuals had actively taken a medication governed by these variants. Despite this clinical promise, the National Institutes of Health initiative behind the discovery faces severe headwinds as primary legislative funding expires in fiscal year 2027. Slashed budgets have already restricted patient recruitment, curtailed mobile outreach units, and halted the return of genetic results to enrolled volunteers. These persistent resource constraints threaten to derail the long-term expansion of precision medicine across broader demographics.

Key points

  • Diverse genomic sequencing is essential to identify medication response traits that stand…: Diverse genomic sequencing is essential to identify medication response traits that standard clinical trials previously missed.
  • Widespread integration of pharmacogenomics into daily medical care is stalled because mos…: Widespread integration of pharmacogenomics into daily medical care is stalled because most patients lack accessible genomic sequencing data.
  • Impending funding cliffs threaten to limit pediatric data collection and downscale critic…: Impending funding cliffs threaten to limit pediatric data collection and downscale critical enrollment infrastructure for the federal research program.

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A study of nearly 100,000 Americans identified thousands of new variants in a set of genes that influence our responses to prescription drugs, thanks to its inclusion of participants from a more diverse set of ancestries than previous studies of these so-called pharmacogenes.

Using data from the National Institute of Health’s All of Us program, the researchers found that every participant carried at least one variant in the 16 pharmacogenes they studied, and that one in four participants had taken a medication that could be affected by these variants.

The new paper, published Wednesday in Science Translational Medicine, advances efforts to use genetic data to personalize drug treatments, and should make this area of research useful to a broader population.

“This really furthers the emerging evidence of how genetically guided clinical care adds benefit across a diverse population,” said Loren Saulsberry, a health policy researcher who has done work on equity and pharmacogenomics but was not involved in the new paper.

Pharmacogenes can change the way people metabolize drugs such that they need higher or lower doses, worsen or introduce…

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