Frequency of pharmacogenomic variation and medication exposures among All of Us Participants
Haddad, A.; Radhakrishnan, A.; McGee, S.; Smith, J. D.; Karnes, J. H.; Venner, E.; Wheeler, M. M.; Patterson, K.; Walker, K.; Kalra, D.; Kalla, S. E.; Wang, Q.; Gibbs, R. A.; Jarvik, G. P.; Sanchez, J.; Musick, A.; Ramirez, A. H.; Denny, J. C.; Empey, P. E.; All of Us Research Program Investigators,
Show abstract
Pharmacogenomics promises improved outcomes through individualized prescribing. However, the lack of diversity in studies impedes clinical translation and equitable application of precision medicine. We evaluated the frequencies of PGx variants, predicted phenotypes, and medication exposures using whole genome sequencing and EHR data from nearly 100k diverse All of Us Research Program participants. We report 100% of participants carried at least one pharmacogenomics variant and nearly all (99.13%) had a predicted phenotype with prescribing recommendations. Clinical impact was high with over 20% having both an actionable phenotype and a prior exposure to an impacted medication with pharmacogenomic prescribing guidance. Importantly, we also report hundreds of alleles and predicted phenotypes that deviate from known frequencies and/or were previously unreported, including within admixed American and African ancestry groups.
Matching journals
The top 4 journals account for 50% of the predicted probability mass.
Similar papers in this journal
- Returning Actionable Genomic Results in a Research Biobank: Analytic Validity, Clinical Implementation and Resource Utilization 92%
- Genetic risk estimates for offspring of patients with Stargardt disease 91%
- The Phenotype-Genotype Reference Map: Improving biobank data science through replication. 90%
Similar papers in this journal
- Pharmacogenetics at scale: An analysis of the UK Biobank 96%
- SLCO1B1 functional variants and statin-induced myopathy in people with recent genealogical ancestors from Africa: a population-based real-world study 93%
- Biobank scale pharmacogenomics informs the genetic underpinnings of simvastatin use 93%
Similar papers in this journal
- Genetic-Ancestry Analysis on >93,000 Individuals Undergoing Expanded Carrier Screening Reveals Limitations of Ethnicity-Based Medical Guidelines 92%
- Reducing Sanger Confirmation Testing through False Positive Prediction Algorithms 91%
- Distinct rates of VUS reclassification are observed when subclassifying VUS by evidence level 91%
Similar papers in this journal
- Pharmacogenetic allele variant frequencies: An analysis of the VAs Million Veteran Program (MVP) as a representation of the diversity in US population. 95%
- Effect of common maintenance drugs on the risk and severity of COVID-19 in elderly patients 91%
- Alpha globin gene copy number and hypertension risk among Black Americans 90%
"Similar papers" are the closest papers from that journal in the model's embedding space. They show what the match is built on, but the ranking comes mostly from a classifier over the whole training set, not from these examples alone.