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Weimin Cai - Pharmacogenomics in Precision Medicine: From a Perspective of Ethnic Differences

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Weimin Cai Pharmacogenomics in Precision Medicine: From a Perspective of Ethnic Differences

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This book provides an introduction to the principles of pharmacogenomics and precision medicine, followed by the pharmacogenomics aspects of major therapeutic areas such as cardiovascular disease, cancer, organ transplantation, psychiatry, infection, antithrombotic drugs. It also includes genotyping technology and therapeutic drug monitoring in Pharmacogenomics; ethical, Legal and Regulatory Issues; cost-effectiveness of pharmacogenetics-guided treatment; application of pharmacogenomics in drug discovery and development and clinical Implementation of Pharmacogenomics for Personalized Precision Medicine. The contributors of Pharmacogenomics in Precision Medicine come from a team of experts, including professors from academic institutions and practitioner from hospital. It will give an in-depth overview of the current state of pharmacogenomics in drug therapy for all health care professionals and graduate students in the era of precision medicine.

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Editors Weimin Cai Zhaoqian Liu Liyan Miao and Xiaoqiang Xiang - photo 1
Editors
Weimin Cai , Zhaoqian Liu , Liyan Miao and Xiaoqiang Xiang
Pharmacogenomics in Precision Medicine
From a Perspective of Ethnic Differences
Editors Weimin Cai School of Pharmacy Fudan University Shanghai Shanghai - photo 2
Editors
Weimin Cai
School of Pharmacy, Fudan University, Shanghai, Shanghai, China
Zhaoqian Liu
Xiangya Hospital, Central South University, Changsha, Hunan, China
Liyan Miao
School of Pharmacy, Suzhou University, Suzhou, Jiangsu, China
Xiaoqiang Xiang
School of Pharmacy, Fudan University, Shanghai, Shanghai, China
ISBN 978-981-15-3894-0 e-ISBN 978-981-15-3895-7
https://doi.org/10.1007/978-981-15-3895-7
Springer Nature Singapore Pte Ltd. 2020
This work is subject to copyright. All rights are reserved by the Publisher, whether the whole or part of the material is concerned, specifically the rights of translation, reprinting, reuse of illustrations, recitation, broadcasting, reproduction on microfilms or in any other physical way, and transmission or information storage and retrieval, electronic adaptation, computer software, or by similar or dissimilar methodology now known or hereafter developed.
The use of general descriptive names, registered names, trademarks, service marks, etc. in this publication does not imply, even in the absence of a specific statement, that such names are exempt from the relevant protective laws and regulations and therefore free for general use.
The publisher, the authors and the editors are safe to assume that the advice and information in this book are believed to be true and accurate at the date of publication. Neither the publisher nor the authors or the editors give a warranty, express or implied, with respect to the material contained herein or for any errors or omissions that may have been made. The publisher remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

This Springer imprint is published by the registered company Springer Nature Singapore Pte Ltd.

The registered company address is: 152 Beach Road, #21-01/04 Gateway East, Singapore 189721, Singapore

Preface

This book focuses on the pharmacogenomics and precision medicine which is to maximize the likelihood of therapeutic efficacy and to minimize the risk of drug toxicity for an individual patient.

This book introduces the principles of pharmacogenomics and precision medicine, followed by the pharmacogenomics aspects of major therapeutic areas such as cardiovascular disease, cancer, organ transplantation, psychiatry, infection, and thrombotic disease. It also includes related areas of genotyping technology and therapeutic drug monitoring in pharmacogenomics; gut microbiota; ethical, legal, and regulatory issues; cost-effectiveness of pharmacogenomics-guided drug therapy; application of pharmacogenomics in drug discovery and development; and clinical implementation of pharmacogenomics for personalized precision medicine.

The ethnic difference of drug effect has become one of the important factors influencing drug uses, medication management, clinical trial, and development of new drugs. Therefore, we have paid much attention from a perspective of ethnic differences to pharmacokinetics and pharmacodynamics caused by genetic polymorphism in a purpose of rational use and development of existing and new medications.

The contributors of Pharmacogenomics in Precision Medicine come from a team of experts, including professors from academic institutions and practitioners from hospitals. This book will give an in-depth overview of the current state of pharmacogenomics in drug therapy for all health care professionals and graduate students in the ear of precision medicine.

Weimin Cai
Zhaoqian Liu
Liyan Miao
Xiaoqiang Xiang
Shanghai, China
January 2020
Contents
Weimin Cai and Ziteng Wang
Xiaoqiang Xiang and Zhiping Jin
Zhaoqian Liu , Chenxue Mao , Xiangping Li and Jiye Yin
Zhaoqian Liu , Chenxue Mao and Jiye Yin
Xiao-yan Qiu , Zhuo Wu , Qin-xia Xu , Chang-cheng Sheng and Zheng Jiao
Shengying Qin , Jingsong Ma , Cong Huai and Wei Zhou
Xianmin Meng , Qian Zhang and Ping Dong
Liyan Miao , Cheng Xie , Xiaoliang Ding and Wenhao Qu
Bing Chen , He Feng Chen , Jia Qian Lu and Beiming Xu
Weihua Huang and Wei Zhang
Bingjie Zou , Nan Sheng , Liying Feng and Guohua Zhou
Liyan Miao , Jingjing Zhang , Ling Yi and Shenjia Huang
Zhijia Tang and Weimin Cai
Xiaoqiang Xiang and Yawen Yuan
Zhaoqian Liu , Xi Li and Boting Zhou
Springer Nature Singapore Pte Ltd. 2020
W. Cai et al. (eds.) Pharmacogenomics in Precision Medicine https://doi.org/10.1007/978-981-15-3895-7_1
1. Introduction and Principles of Pharmacogenomics in Precision Medicine
Weimin Cai
(1)
Department of Clinical Pharmacy, Fudan University, School of Pharmacy, Shanghai, Peoples Republic of China
Weimin Cai
Email:
Abstract

The individual and ethnic differences of drug effects are very important issues in clinical drug therapy. They may be caused by genetic variations which mainly come from polymorphisms of genes encoding metabolic enzymes, transporters and drug targets that affect the in vivo pharmacokinetic and pharmacodynamics of drugs. With the development and huge successes of HGP project, one of its major applications is emerge of a new research area of pharmacogenomics, which is used in standardization and individualization of drug therapy. In order to fulfill its goal, precision medicine is the key to solve the problem.

Keywords
Pharmacogenomics Precision medicine Polymorphism Biomarkers
1.1 Introduction

The individual and ethnic differences of drug effects are very important issues in clinical drug therapy. Besides seemingly obvious factors such as body weight, height, gender, age, drug quality, organ function, disease progress complication, and food/drug interaction, genetics also plays an important role in such area. The difference of drug effects caused by genetic variation mainly comes from polymorphism of coding genes of drug metabolizing enzymes, transporters and drug targets, which will influence their pharmacokinetics and pharmacodynamics. Therefore, they consist of main research field of pharmacogenomics. Furthermore, Precision Medicine Initiative draws more attention of study and application of pharmacogenomics. This chapter will introduce principles of genetic basis, pharmacogenomics, and precision medicine.

1.1.1 Genetic Concepts of Pharmacogenomics
1.1.1.1 Gene

Gene is the basic element of heritage information. It usually indicates a specific product (e.g., protein or RNA molecule) of function located in a single nucleotide sequence.

Human genes usually consist of two major regions. One is called coding region (5% of genome), including exons and introns. Another is flanking sequence, located in upstream or downstream of coding region, which has regulating effect, consisting of promoter, enhancer, and terminator (Fig. ).
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