HEALTHCARE Personalized Medicine: Promises and Pitfalls broadly explores the tailoring of medical treatment to a patient’s characteristics, needs, and preferences during all stages of care, including prevention, diagnosis, treatment, and follow-up. The book’s goal is to explain the science behind personalized medicine, what impact it may have on specific diseases, and some of the reper- cussions of a personalized medical approach on our medical institutions. Novel personalized therapeutic treatments and their scientific basis are discussed by covering topics as diverse as genomics, proteomics, epi- genetics, integrative medicine, stem cells, and the factors that influence personal health. A personalized medical system also requires patient involvement in developing a healthy lifestyle, and so this book touches on topics such as the individual’s family history, present and past lifestyle, nutrition, exercise levels, and stress factors. By explaining these broad topics in personalized medicine and the science behind them, we discover how personalized medicine can have a positive impact on an individual’s health. K25314 ISBN: 978-1-4987-1491-4 9 0 0 0 0 9 781498 714914 K25314_Cover_PubGr.indd All Pages 3/15/16 9:35 AM PERSONALIZED MEDICINE PROMISES AND PITFALLS Gloria Gronowicz, PhD University of Connecticut Health Center Farmington, CT, USA CRC Press Taylor & Francis Group 6000 Broken Sound Parkway NW, Suite 300 Boca Raton, FL 33487-2742 © 2016 by Taylor & Francis Group, LLC CRC Press is an imprint of Taylor & Francis Group, an Informa business No claim to original U.S. Government works Version Date: 20160301 International Standard Book Number-13: 978-1-4987-1492-1 (eBook - PDF) This book contains information obtained from authentic and highly regarded sources. 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Visit the Taylor & Francis Web site at http://www.taylorandfrancis.com and the CRC Press Web site at http://www.crcpress.com Contents Author vi Cover artist ix Introduction xi 1 Genomics 1 DNA 1 Chromosomes 2 Genes 2 Transcription and translation 6 The birth of genetics and Mendel 7 Mitosis, meiosis, and recombination 9 Single-nucleotide polymorphism 10 Cystic fbrosis, cancer, and genomics 14 Post-translational modifcations 15 Microarrays and CRISPR/Cas9 16 Chimera 17 References 18 2 Proteomics 21 Amino acids and proteins 22 Post-translational modifcations 25 Biomarkers 27 Proteomics, biomarkers, and prostate cancer 27 Metabolomics 32 Proteomics, biomarkers, and breast cancer 33 Proteomics and atherosclerosis 35 References 37 3 Epigenetics 39 Diabetes and epigenetics 40 Diabetes and DNA methylation 42 Histones and epigenetics 43 Genomics, epigenetics, and environment in mental illnesses 43 miRNAs, siRNAs, and piRNAs 46 iii iv Contents miRNAs and cancer 48 miRNAs and hepatitis C 49 References 50 4 Integrative medicine: Nutrition and exercise 53 Healthy diet 54 BMI 54 Vitamins 5 Minerals in our diet 57 Metabolic syndrome, cholesterol, low-density lipoproteins, high-density lipoproteins, and blood pressure 60 Genetics, obesity, and healthy diets 62 Weight loss 63 Eating healthy 64 Sugar-sweetened sodas 64 Physical activity and exercise 65 Poverty and child nutrition 66 References 67 5 Other integrative medical treatments 71 Acupuncture 72 Stres 75 Stress reduction 81 Mind–body therapies: Meditation, mindfulness, Dr. John Kabat-Zinn, and guided imagery 82 Yoga 84 References 89 6 The placebo effect 93 Psychological factors and neurobiology 94 Hormone and immune responses 96 Placebo and antidepressants 98 Placebo effect, survival effects, and other questions 99 References 9 7 Stem cells 101 Stem cells in medicine 101 Embryonic stem cells 101 Induced pluripotent stem cells 103 iPSCs and Yamanaka factors 103 Somatic cell nuclear transfer 104 Scientifc problems to be solved for iPSCs 105 Present use of iPSCs for medicine 107 Stem cells and Parkinson’s disease and macular degeneration 108 References 10 8 Scientifc studies and medical trials 113 Case reports 114 RCTs 15 Other types of medical studies and the issues with RCTS 117 Animal studies 120 Contents v Cell studies 123 Computer-based modeling 126 Peer review of medical and scientifc studies leading to publication 126 References 127 9 Medical training for personalized medicine 131 Genomics and the medical school curriculum 132 National resources for genomics training 134 Collaboration across medical disciplines for personalized medicine 134 References 135 10 Drug, hospital, and medical care costs 137 Healthcare costs 139 Drug costs 140 What ails us 143 Adding personalized and preventative medicine to our healthcare system 14 Conclusions 148 References 149 11 Ethics 151 Laws protecting patients 153 Privacy of patient records and HIPAA 156 Patient autonomy, well-being, and equity 158 Personalized therapeutics 160 Research ethics 161 Artifcial intelligence 162 References 164 12 Conclusions 165 References 170 Glossary of scientifc terms 171 Author Dr. Gloria Gronowicz earned her PhD in biology from Columbia University, New York, and later obtained a postdoctoral fellowship in the Department of Biochemistry at the University of Chicago. She came to the University of Connecticut Health in 1983 as a postdoctoral fellow and later joined the Department of Orthopedics, where she became director of Orthopedic Research from 1989 to 2007 and developed the basic research curriculum course for orthopedic residents. She was a tenured professor in 2002. Later, she joined the Department of Surgery in 2007 and continued as a full professor with a joint appointment in orthopedics until 2015 when she became professor emeri- tus. Dr. Gronowicz has published over 100 articles in peer-reviewed journals, and nine book chapters. She was the director of the Center for Bone Histology and Histomorphometry, which she developed in 1998. Te Center closed in 2007 when she joined the Department of Surgery. She has trained over 25 PhD and postdoctoral fellows, and is a member of the Skeletal Biology and Regeneration graduate program of which she was director from 2012 to 2014. Dr. Gronowicz also had major teaching commitments in the Medical and Dental Schools throughout her academic career. She received continuous NIH (National Institutes of Health) funding for the past 25 years and also been funded by numerous scientifc and medical foundations. Dr. Gronowicz has served on NIH and NASA (National Aeronautics and Space Administration) study sections, and has lectured all over the world. She played major roles in the American Society of Bone and Mineral Research, and in the Orthopaedic Research Society where she was elected chairman of the Bone Topic Committee from 2012 to 2014. Her research encompasses bone biology, aging, response of bone to implant materials, otosclerosis, and i ntegrative medicine. vii