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ABSTRACT Inter-individual variation of drug metabolising enzymes (DMEs) leads to variable efficacy of many drugs and even adverse drug responses. Consequently, it would be desirable to test

variants of many DMEs before drug treatment. Inter-ethnic differences in frequency mean that the choice of SNPs to test may vary across population groups. Here we examine the utility of

testing representative groups as a way of assessing what variants might be tested. We show that publicly available population information is potentially useful for determining loci for

pre-treatment genetic testing, and for determining the most prevalent risk haplotypes in defined groups. However, we also show that the NHS England classifications have limitations for

grouping for these purposes, in particular for people of African descent. We conclude: (1) genotyping of hospital patients and people from the hospital catchment area confers no advantage

over using samples from appropriate existing ethnic group collections or publicly available data, (2) given the current NHS England Black African grouping, a decision as to whether to test,

would have to apply to all patients of recent Black African ancestry to cover reported risk alleles and (3) the current scarcity of available genome and drug effect data from Africans is a

problem for both testing and treatment decisions. Access through your institution Buy or subscribe This is a preview of subscription content, access via your institution ACCESS OPTIONS

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institutional subscriptions * Read our FAQs * Contact customer support SIMILAR CONTENT BEING VIEWED BY OTHERS PHARMACOGENOMIC ANALYSIS OF A GENETICALLY DISTINCT INDIGENOUS POPULATION Article

25 November 2021 GENETIC DIVERSITY OF VARIANTS INVOLVED IN DRUG RESPONSE AMONG TUNISIAN AND ITALIAN POPULATIONS TOWARD PERSONALIZED MEDICINE Article Open access 10 March 2024 PHENOTYPE

PREDICTION AND CHARACTERIZATION OF 25 PHARMACOGENES IN THAIS FROM WHOLE GENOME SEQUENCING FOR CLINICAL IMPLEMENTATION Article Open access 03 November 2020 CODE AVAILABILITY Data pertaining

to the 1000G SNPs were extracted using VCFtools version 0.1.13 (https://vcftools.github.io/index.html), from the 1000G Phase 3 VCF files for the relevant chromosomes

(ftp://ftp.1000genomes.ebi.ac.uk/vol1/ftp/release/20130502/). For systematic and automated haplotype analysis of large SNP data, we developed an R-based tool to convert PLINK PED/MAP files

to PHASE input, and to summarise haplotype inference results in multiple groups from PHASE output. This tool is now publicly available on Github

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Pharmacogenetics of irinotecan: clinical perspectives on the utility of genotyping. Pharmacogenomics. 2006;7:1211–21. CAS  PubMed  Google Scholar  Download references ACKNOWLEDGEMENTS We

thank all the sample donors who participated in this study and the UCLH clinicians, Aroon Hingorani, Alastair Forbes, Simon Woldman, Steve Hurel, Clare Dollery and others who helped us with

access to patient volunteers in their clinics. We also thank Mark Thomas for access to some of the samples and Pieta Nosanea, Esther Williams, Sarah Steward and Ayele Tarekegn for help with

sample collections from African and Indian volunteers in their native countries; Ranji Areseratnam for technical assistance. This research was funded by the University College London

Hospitals Comprehensive Biomedical Research Centre. AUTHOR INFORMATION Author notes * These authors contributed equally: Catherine J.E. Ingram, Rosemary Ekong, Naser Ansari-Pour AUTHORS AND

AFFILIATIONS * Research Department of Genetics, Evolution and Environment, University College London, Darwin Building, Gower Street, London, WC1E 6BT, UK Catherine J. E. Ingram, Rosemary

Ekong & Dallas M. Swallow * Big Data Institute, Nuffield Department of Medicine, University of Oxford, Oxford, OX3 7LF, UK Naser Ansari-Pour * Henry Stewart Group, 40-41 Museum Street,

London, WC1A 1LT, UK Neil Bradman Authors * Catherine J. E. Ingram View author publications You can also search for this author inPubMed Google Scholar * Rosemary Ekong View author

publications You can also search for this author inPubMed Google Scholar * Naser Ansari-Pour View author publications You can also search for this author inPubMed Google Scholar * Neil

Bradman View author publications You can also search for this author inPubMed Google Scholar * Dallas M. Swallow View author publications You can also search for this author inPubMed Google

Scholar CORRESPONDING AUTHOR Correspondence to Dallas M. Swallow. ETHICS DECLARATIONS CONFLICT OF INTEREST During this study NB had a controlling interest in a company interested in

developing diagnostic technology to identify variation in drug metabolising enzymes to improve healthcare. Neither NB nor the company now have that objective. None of the other authors have

any potential conflicts of interest to declare. ADDITIONAL INFORMATION PUBLISHER’S NOTE Springer Nature remains neutral with regard to jurisdictional claims in published maps and

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S4 SUPPLEMENTARY FIGURES RIGHTS AND PERMISSIONS Reprints and permissions ABOUT THIS ARTICLE CITE THIS ARTICLE Ingram, C.J.E., Ekong, R., Ansari-Pour, N. _et al._ Group-based pharmacogenetic

prediction: is it feasible and do current NHS England ethnic classifications provide appropriate data?. _Pharmacogenomics J_ 21, 47–59 (2021). https://doi.org/10.1038/s41397-020-0175-0

Download citation * Received: 28 October 2019 * Revised: 15 June 2020 * Accepted: 02 July 2020 * Published: 18 July 2020 * Issue Date: February 2021 * DOI:

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