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Precision Medicine in Clinical Practice Mandana Hasanzad Editor 123 Precision Medicine in Clinical Practice Mandana Hasanzad Editor Precision Medicine in Clinical Practice Editor Mandana Hasanzad Medical Genomics Research Center Tehran Medical Sciences Islamic Azad University Tehran, Iran ISBN 978-981-19-5081-0 ISBN 978-981-19-5082-7 (eBook) https://doi.org/10.1007/978-981-19-5082-7 © The Editor(s) (if applicable) and The Author(s), under exclusive license to Springer Nature Singapore Pte Ltd. 2022 This work is subject to copyright. All rights are solely and exclusively licensed 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. 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The registered company address is: 152 Beach Road, #21-01/04 Gateway East, Singapore 189721, Singapore To my parents, Source of encouragement, support, and love Acknowledgments The production of this book is truly a collaborative effort. I am greatly indebted to a variety of people. I am truly grateful for their time and efforts. I would also like to extend my special thanks to my colleagues in the Personalized Medicine Research Center, Endocrinology and Metabolism Clinical Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran. There are many people at Springer Nature whom I deeply respect and whose efforts are amazing. vii Contents 1 Principles of Precision Medicine . . . . . . . . . . . . . . . . . . . . . . . . . . 1 Bagher Larijani, Hamid Reza Aghaei Meybodi, Negar Sarhangi, and Mandana Hasanzad 2 Principles of Pharmacogenomics and Pharmacogenetics . . . . . . 13 Mandana Hasanzad, Negar Sarhangi, Leila Hashemian, and Behnaz Sarrami 3 Precision Medicine in Oncology and Cancer Therapeutics . . . . 33 Marius Geanta, Adriana Boata, Angela Brand, Bianca Cucos, and Hans Lehrach 4 Precision Medicine in Cardiovascular Disease Practice . . . . . . . 53 Ali Sheikhy, Aida Fallahzadeh, Hamid Reza Aghaei Meybodi, and Kaveh Hosseini 5 Precision Medicine in Endocrinology Practice . . . . . . . . . . . . . . . 67 Hamid Reza Aghaei Meybodi, Mandana Hasanzad, Negar Sarhangi, and Bagher Larijani 6 Precision Medicine in Psychiatric Disorders . . . . . . . . . . . . . . . . 93 Xenia Gonda, Kinga Gecse, Zsofia Gal, and Gabriella Juhasz 7 Precision Public Health Perspectives . . . . . . . . . . . . . . . . . . . . . . 113 Maria Josefina Ruiz Alvarez 8 DNA Technologies in Precision Medicine and Pharmacogenetics . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 129 Seyedeh Sedigheh Abedini, Niloofar Bazazzadegan, and Mandana Hasanzad 9 Precision Medicine Initiatives . . . . . . . . . . . . . . . . . . . . . . . . . . . . 151 Forough Taheri, Monika Frenzel, Pirooz Ebrahimi, Negar Sarhangi, Mandana Hasanzad, and Mahsa M. Amoli 10 Economic Aspects in Precision Medicine and Pharmacogenomics . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 171 Marziyeh Nosrati, Shekoufeh Nikfar, and Mandana Hasanzad ix x Contents 11 Ethical, Legal and Social Aspects of Precision Medicine . . . . . . 179 Maria Josefina Ruiz Alvarez, Erich Griessler, and Johannes Starkbaum 12 Personalized Medicine Literacy . . . . . . . . . . . . . . . . . . . . . . . . . . . 197 Marius Geanta, Adriana Boata, Angela Brand, Cosmina Cioroboiu, and Bianca Cucos 13 Precision Medicine in Infectious Disease . . . . . . . . . . . . . . . . . . . 221 Maria Josefina Ruiz Alvarez, Mandana Hasanzad, Hamid Reza Aghaei Meybodi, and Negar Sarhangi 1 Principles of Precision Medicine Bagher Larijani , Hamid Reza Aghaei Meybodi , Negar Sarhangi , and Mandana Hasanzad What Will You Learn in This Chapter? At the end of this chapter, precision medicine and Healthcare is quickly moving toward precision evidence-based medicine will be addressed to medicine, which appears to offer a better under- provide the future of the medical practice. standing of human physiology through genetic knowledge and insight and technological Rationale and Importance advancements. Precision medicine is necessary Precision medicine is an emerging medical prac- to alleviate unnecessary adverse reactions to tice that utilizes an individual’s genetic profile to medical care which can result from the current direct decisions taken in the field of disease pre- one-size-fits-all approach, technologies that vention, prediction, and personalized treatment. encourage the healthcare ecosystem to develop Precision medicine, because it is concentrated and deliver genetic-based care and manage cus- on the unique genetic makeup of each patient, is tomizations. Accordingly, this chapter has a spe- beginning to overcome the limitations of conven- cial focus on the introducing of precision tional medicine. It is increasingly enabling (personalized) medicine. At the beginning of this healthcare providers to shift the emphasis on chapter, the general definition of synonymous medicine from response to the prevention and terms of personalized medicine will be discussed. also the prediction of the disease susceptibility, especially in common diseases. Precision medicine improves the health impact B. Larijani · N. Sarhangi of existing treatments by enhancing the matching Personalized Medicine Research Center, Endocrinology and Metabolism Clinical Sciences process between patients and treatments and by Institute, Tehran University of Medical Sciences, improving patient understanding of the risk of Tehran, Iran serious side effects. H. R. Aghaei Meybodi The rationality behind precision medicine is Endocrinology and Metabolism Research Center, understanding the different genetic backgrounds Endocrinology and Metabolism Clinical Sciences which have impacts on the response of individu- Institute, Tehran University of Medical Sciences, Tehran, Iran als to therapeutic interventions. The concept of “one medicine for all patients M. Hasanzad (*) Personalized Medicine Research Center, with the same disease” does not hold, and a more Endocrinology and Metabolism Clinical Sciences individualized approach is needed because of sig- Institute, Tehran University of Medical Sciences, nificant individual variation; some individuals Tehran, Iran show no response, while others show a strong Medical Genomics Research Center, Tehran Medical response. Sciences, Islamic Azad University, Tehran, Iran © The Author(s), under exclusive license to Springer Nature Singapore Pte Ltd. 2022 1 M. Hasanzad (ed.), Precision Medicine in Clinical Practice, https://doi.org/10.1007/978-981-19-5082-7_1 2 B. Larijani et al. 1.1 A n Introduction to Precision The theory and statement for personalized med- Medicine in Clinical Practice icine have attracted the greatest attention among many exciting fields. The individualized approach By the mid-twentieth century, health profession- appears to be a critical feature of healthcare in the als had developed a certain kind of individualized coming decades. Personalized/precision medicine approach to the treatment of patients. The rise of aims to improve treatment outcomes through new genetics came in the twentieth century. The huge molecular taxonomy for disease and reduce adverse amount of scientific discoveries made in the field drug reactions (ADRs) that affect both the clini- of genomics has been supposed to allow the per- cians and the patients. sonalized/precision medicine approach to move The potential of precision medicine applies to from a previously hopeful dream to an effective all clinical disciplines including oncology, cardi- truth. Precision medicine became more meaning- ology, and all stages of the disease development ful at the beginning of the twenty-first century that many benefits for patient care have been with the integration of the Human Genome mentioned. Some evidence-based examples are Project, which leads to the transformation of per- briefly explained in each chapter of this book. sonalized medicine from an idea to a reality. The project adopted a new approach linking the genetic makeup of individuals and their health 1.2 Definition of Precision [1–4]. Medicine Genomics many claims revolutionize the medical practice and healthcare by enabling early The personalized medicine idea is not new and is diagnosis and disease management to be more traced back at least to the time of Hippocrates. He precisely targeted at each patient. believes in the individuality concept of disease. In the evidence-based medicine approach, He said, “It is even more essential to remember many existing drugs are authorized and devel- what kind of individual the disease has than what oped based on their efficiency in a large popula- kind of disease the individual has” [5]. tion of individuals, but future medicines are An early example of personalized medicine developed as personalized solutions to the needs was the first known blood compatibility test for of a particular patient. transfusion using blood typing methods, the Each individual has a highly specific genomic, genetic basis in favism, and cytochrome P450 transcriptomic, proteomic, and metabolic profile 2D6 function determination [6, 7]. which can contribute to specific pathological The term personalized medicine appeared in a symptoms of disease, response to treatment, and publication that discussed the change in the role of disease severity. family physicians in the modern world of medicine Clinical practice encounters major challenges, and technology. The personalized medicine including emerging rapidly spreading new infec- approach is considered as an art of the medicine [8]. tious diseases, fast-growing common diseases The role of pharmacogenetics (as a part of such as type 2 diabetes (T2D) and cancers, personalized medicine) in clinical practice has changes in the clinical manifestations of some been published by Gupeta et al. [5]. No officially diseases in the treatment process (e.g., drug- recognized consensus on the definition of person- resistant or adverse drug reactions), and popula- alized medicine exists. The term “personalized tion shifts (i.e., aging). medicine” appeared in the literature in MEDLINE In the context of common disorders, the con- in 1999 by an article entitled “New Era of ventional “one-drug-fits-all” approach involves Personalized Medicine: Targeting Drugs for Each trial and error before effective treatment is estab- Unique Genetic Profile” [9]. lished. And clinical trial data for a new drug Various terms, including personalized medi- shows only the average response of the study cine, precision medicine, p4 medicine, individu- group. alized medicine, and stratified medicine, have