Genome-wide association studies (GWAS) have been instrumental in identifying disease-associated genetic variants and mapping them to genes and pathways. Among diseased individuals, mounting evidence has suggested a clear genetic basis underlying variation in individual responses to specific drugs and treatments. For many complex disorders, drug unresponsiveness or resistance contributes to a significantly reduced quality of life for individuals and a burden on healthcare utilization. Pharmacogenomic research therefore offers a prospective avenue to inform and design precision treatment regimens. Similar to complex traits and disorders, susceptibility to drug resistance exhibits a multifactorial nature. However, previous pharmacogenomic studies are largely limited to available samples and power to yield robust findings, and discoveries were mainly based on people of European descent.
With genomic technology and data rapidly scaling up, extensive efforts have been made in recent years to increase sample sizes in diverse populations and establish national biobanks across the globe. In particular, the rich spectrum of phenotypes collected in biobanks (e.g., longitudinal medical records, procedure codes, lab tests) provides unique opportunities for advancing pharmacogenomic research, especially for diseases where diagnoses cannot be well-captured by self-report or billing codes. Leveraging these growing resources allows exploration of many critical questions in this area, such as—but not limited to—approaches to improve the classification and validation of treatment response variables, establish the temporality from drug prescription to response while considering potential comorbidities, develop and interpret pharmacogenomic testing in clinical and public health practice, as well as compare population-specific and cross-population pharmacogenomic findings.
In this Research Topic, we aim to present the latest findings and address challenges and future directions for pharmacogenomic research in global populations. Specifically, we welcome submissions on the following topics:
(1) Analysis: genetic investigations using array or sequencing data to identify common and rare variants associated with drug response, efficacy, safety, or gene-drug interactions; recall-by-genotype clinical studies; pharmacogenomic clinical trials; or biomarker utility across ancestries
(2) Methodology: novel approaches or algorithms for pharmacogenomic phenotyping, longitudinal risk stratification and prediction, or trans-ancestry analysis
(3) Resources: efforts to catalog pharmacogenetic variants, their associated diseases, and the prevalence of carriers within or across different ancestral populations
Articles acceptable for this Research Topic are limited to:
• Articles unambiguously related to pharmacogenetics, pharmacogenomics, drug metabolism, or drug transport.
• If patient data are analyzed, a comprehensive description of the patients including sex, age, diagnostic criteria, inclusion and exclusion criteria, disease stage, therapy received, comorbidities as well as additional clinical information and assessment of drug response/effects should be included.
• If genetic, proteomics, metabolomics, or other omics data are analyzed, a comprehensive description of the methods and the rationale for the selection of the specific data studied should be provided.
• Studies related to natural compounds, herbal extracts, or traditional medicine products, will not be included in this Research Topic.
Genome-wide association studies (GWAS) have been instrumental in identifying disease-associated genetic variants and mapping them to genes and pathways. Among diseased individuals, mounting evidence has suggested a clear genetic basis underlying variation in individual responses to specific drugs and treatments. For many complex disorders, drug unresponsiveness or resistance contributes to a significantly reduced quality of life for individuals and a burden on healthcare utilization. Pharmacogenomic research therefore offers a prospective avenue to inform and design precision treatment regimens. Similar to complex traits and disorders, susceptibility to drug resistance exhibits a multifactorial nature. However, previous pharmacogenomic studies are largely limited to available samples and power to yield robust findings, and discoveries were mainly based on people of European descent.
With genomic technology and data rapidly scaling up, extensive efforts have been made in recent years to increase sample sizes in diverse populations and establish national biobanks across the globe. In particular, the rich spectrum of phenotypes collected in biobanks (e.g., longitudinal medical records, procedure codes, lab tests) provides unique opportunities for advancing pharmacogenomic research, especially for diseases where diagnoses cannot be well-captured by self-report or billing codes. Leveraging these growing resources allows exploration of many critical questions in this area, such as—but not limited to—approaches to improve the classification and validation of treatment response variables, establish the temporality from drug prescription to response while considering potential comorbidities, develop and interpret pharmacogenomic testing in clinical and public health practice, as well as compare population-specific and cross-population pharmacogenomic findings.
In this Research Topic, we aim to present the latest findings and address challenges and future directions for pharmacogenomic research in global populations. Specifically, we welcome submissions on the following topics:
(1) Analysis: genetic investigations using array or sequencing data to identify common and rare variants associated with drug response, efficacy, safety, or gene-drug interactions; recall-by-genotype clinical studies; pharmacogenomic clinical trials; or biomarker utility across ancestries
(2) Methodology: novel approaches or algorithms for pharmacogenomic phenotyping, longitudinal risk stratification and prediction, or trans-ancestry analysis
(3) Resources: efforts to catalog pharmacogenetic variants, their associated diseases, and the prevalence of carriers within or across different ancestral populations
Articles acceptable for this Research Topic are limited to:
• Articles unambiguously related to pharmacogenetics, pharmacogenomics, drug metabolism, or drug transport.
• If patient data are analyzed, a comprehensive description of the patients including sex, age, diagnostic criteria, inclusion and exclusion criteria, disease stage, therapy received, comorbidities as well as additional clinical information and assessment of drug response/effects should be included.
• If genetic, proteomics, metabolomics, or other omics data are analyzed, a comprehensive description of the methods and the rationale for the selection of the specific data studied should be provided.
• Studies related to natural compounds, herbal extracts, or traditional medicine products, will not be included in this Research Topic.