Ethnicity and pharmacogenomics are inextricably linked, and drug responses can vary based on the allelic distribution present in different ethnic populations. For instance, the CYP2C9*2 allele prevalence is <1% in most Asian populations, while it can reach up to 19% in some European populations. In some countries, due to different waves of immigration, dissimilar genetic patterns are observed, and this interethnic genetic heterogeneity may have a significant impact when it comes to drug responses. Unfortunately, most of the time, only major ethnic groups are of interest for investigations aiming to discover clinically actionable pharmacogenes. Importantly, ethnicity can also influence socioeconomic status, which can lead to inequitable health care support for many ethnic minorities around the world. This could be the reason why the results of any given pharmacogenetics study are not being applied as they could be in general clinical practice in many Central and East Asian countries. For example, HLA B* 15:02 has been associated with carbamazepine-induced SJS/TEN in general, but in Malaysia, HLA B* 15:13 has been identified as the next potential ethnic-specific risk marker for carbamazepine-induced SJS/TEN. In addition, in Latin America, there is significant ethnic diversity among different populations where personalized medicine and pharmacogenetics testing are only scarcely available. In consequence, it is of paramount importance that we determine and establish a specific map for population-specific pharmacogenomic biomarkers that have the potential to directly impact and promote the clinical implementation of pharmacogenomics in very specific and unrepresented populations.
The purpose of this article collection is to present and outline recent evidence dealing with ethnic-specific pharmacogenomics biomarkers, as well as their therapeutic relevance in each ethnicity. This Topic also looks to explore the ethnic-specific genetic complexity and how it can influence the implementation and the use of ethnically unique pharmacogenes in clinical practice.
With this Research Topic, we encourage authors to submit well-powered Original Research, Case report, Review, and Systematic Review (with or without a meta-analysis component) articles that cover all aspects of pharmacogenomics research with a very clear focus placed on relevant ethnic variations. Studies merely describing frequencies for already known single nucleotide variations (SNVs) or variant alleles will not be acceptable. Submissions can discuss the following themes, including but not limited to:
• Discovery and evidence of novel ethnic-specific variants that can be considered as relevant biomarkers in personalized medicine.
• Discussion of intra- and interethnic genetic diversity in specific populations and how this can impact pharmacogenetic testing.
• Discussion of the economic repercussions of population pharmacogenomics for developing countries with ethnic minorities.
• Challenges and future perspectives about the interpretation and clinical implementation of ethnically variable and unique pharmacogenes.
Ethnicity and pharmacogenomics are inextricably linked, and drug responses can vary based on the allelic distribution present in different ethnic populations. For instance, the CYP2C9*2 allele prevalence is <1% in most Asian populations, while it can reach up to 19% in some European populations. In some countries, due to different waves of immigration, dissimilar genetic patterns are observed, and this interethnic genetic heterogeneity may have a significant impact when it comes to drug responses. Unfortunately, most of the time, only major ethnic groups are of interest for investigations aiming to discover clinically actionable pharmacogenes. Importantly, ethnicity can also influence socioeconomic status, which can lead to inequitable health care support for many ethnic minorities around the world. This could be the reason why the results of any given pharmacogenetics study are not being applied as they could be in general clinical practice in many Central and East Asian countries. For example, HLA B* 15:02 has been associated with carbamazepine-induced SJS/TEN in general, but in Malaysia, HLA B* 15:13 has been identified as the next potential ethnic-specific risk marker for carbamazepine-induced SJS/TEN. In addition, in Latin America, there is significant ethnic diversity among different populations where personalized medicine and pharmacogenetics testing are only scarcely available. In consequence, it is of paramount importance that we determine and establish a specific map for population-specific pharmacogenomic biomarkers that have the potential to directly impact and promote the clinical implementation of pharmacogenomics in very specific and unrepresented populations.
The purpose of this article collection is to present and outline recent evidence dealing with ethnic-specific pharmacogenomics biomarkers, as well as their therapeutic relevance in each ethnicity. This Topic also looks to explore the ethnic-specific genetic complexity and how it can influence the implementation and the use of ethnically unique pharmacogenes in clinical practice.
With this Research Topic, we encourage authors to submit well-powered Original Research, Case report, Review, and Systematic Review (with or without a meta-analysis component) articles that cover all aspects of pharmacogenomics research with a very clear focus placed on relevant ethnic variations. Studies merely describing frequencies for already known single nucleotide variations (SNVs) or variant alleles will not be acceptable. Submissions can discuss the following themes, including but not limited to:
• Discovery and evidence of novel ethnic-specific variants that can be considered as relevant biomarkers in personalized medicine.
• Discussion of intra- and interethnic genetic diversity in specific populations and how this can impact pharmacogenetic testing.
• Discussion of the economic repercussions of population pharmacogenomics for developing countries with ethnic minorities.
• Challenges and future perspectives about the interpretation and clinical implementation of ethnically variable and unique pharmacogenes.