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Precision medicine: does ethnicity information complement genotype-based prescribing decisions?

Rashmi R Shah1, Andrea Gaedigk2

  • 1Pharmaceutical Consultant, 8 Birchdale, Gerrards Cross, Buckinghamshire, SL9 7JA, UK.

Therapeutic Advances in Drug Safety
|January 11, 2018
PubMed
Summary
This summary is machine-generated.

Ethnic background influences drug response due to pharmacogenetic variations. While genotype-based precision medicine is key, self-identified ethnicity remains important for predicting drug efficacy and safety.

Keywords:
cytochrome P450ethnicitygenetic ancestryphenoconversionprecision medicinetamoxifenwarfarin

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Area of Science:

  • Pharmacogenetics
  • Genomics
  • Precision Medicine

Background:

  • Inter-ethnic variations in drug response are well-documented and linked to pharmacogenetic differences.
  • Precision medicine aims to optimize drug efficacy and safety using genotype-based prescribing.
  • Self-identified ethnicity is often used as a proxy for genetic variations when genotyping is unavailable.

Purpose of the Study:

  • To evaluate the role of self-identified ethnicity in predicting patient genotypes and drug response.
  • To highlight the limitations of using ethnicity as a sole proxy for genetic ancestry in pharmacogenetics.
  • To emphasize the continued relevance of ethnicity in precision medicine despite population admixture.

Main Methods:

  • Review of existing literature on pharmacogenetics and ethnic differences in drug response.
  • Analysis of case studies illustrating the impact of genetic ancestry on drug efficacy (e.g., warfarin dosing).
  • Discussion of the influence of non-genetic factors associated with ethnicity on phenoconversion.

Main Results:

  • Population admixture has reduced the reliability of self-identified ethnicity for predicting genetic ancestry.
  • European-centric pharmacogenetic algorithms perform poorly in diverse populations, impacting drug dosing accuracy.
  • Ethnicity-associated factors can contribute to genotype-phenotype discordance, affecting treatment outcomes.

Conclusions:

  • Genotyping is crucial for precision medicine, but self-identified ethnicity should not be disregarded.
  • Understanding both genetic ancestry and ethnicity-related factors is essential for successful genotype-based prescribing.
  • Future pharmacogenetic approaches must account for complex population dynamics and non-genetic influences.