Contents:
The wide and public availability of the human genome sequence and the other tools spawned by the Human Genome Project have helped to create an unparalleled era of biomedical discovery. It has opened up new avenues for the understanding of the biology of human health and disease. Many of these avenues remain to be fully explored, but this volume already demonstrates that information about genetics and genomics is increasingly permeating our clinical approach to patients.
For more than a century, knowledge about the role of genes has been gradually reshaping perceptions of our health and of ourselves. From Mendel's work with plants and Watson and Crick's model of DNA's double-helix structure to the recent decoding of the human genome, the tremendous advances in our ability to analyze and interpret gene sequences are revolutionizing many aspects of medicine. Genomic Medicine collects and updates an acclaimed series of articles published in the pages of the New England Journal of Medicine since November that together provide an authoritative and comprehensive overview of the latest developments in the field of medical genetics and an exploration of where these advances might take medicine over the next decade.
Beginning with a fundamental primer and a useful glossary of terms, the book offers the latest information on the use of genetics to screen, diagnose, and treat a wide variety of diseases, including breast and ovarian cancer and cardiovascular, Alzheimer, and Parkinson disease.
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Also included are discussions of population screening, pharmacogenetics, and the ethical, legal, and social dimensions of genomic medicine. Edited by leaders in the field, written by experts from around the globe, and brimming with full-color illustrations, Genomic Medicine is an indispensable guide to the full potential of the DNA-based transformation of medicine. If you re not a scientist or genetics professional, the whole concept of genomic medicine may sound a lot like science fiction.
In The Genome Book: A Must-Have Guide to Your DNA for Maximum Health, author April Lynch brings you a thorough but easy-to-understand explanation of the growing medical benefits provided by the decoding of the human genome. She discusses DNA' s role in nutrition, cancer, blood and heart conditions, and even behavior, and gives an overview of genetic testing and genomic care.
She also discusses how your DNA is passed on to your children, and the testing procedures that are now available when starting a family. They assume that accurate assessments from genomic sequence to proteomics and their function, to conventional medical data, to enormous amounts of clinical diagnostic imaging and environmental measurements would be available, affordable and accessible for individuals.
By analyzing these data any transition from health to disease will be marked [ ]. Genome and protein profiles will also be used to assess drug toxicities, avoiding unnecessary adverse effects. Assuming that targeted drugs that are effective at different stages of disease progression are available in the future, tailored interventions will be engaged to correct a disease-perturbed network to restore an individual to wellness.
Their participation will contribute to the advancement of medical and health knowledge and will eventually maximize their own wellness. Does this sound like a scientific fiction story? Are they castles in the sky? Because we have witnessed the unprecedented success of human genomic, this ambitious vision should not be rejected. However, in the first decade after deciphering the human genome, only a handful of genetic discoveries have been applied into routine medical practice and the clinical benefits are still far from enhancing the wellness and treating diseases for most individuals [ 25 , ].
Meanwhile, many of these analyses are currently prohibitively expensive. Therefore, it is too optimistic to build up such a system with integration of huge data that are not yet fully-understood. Will this become a reality in 10 years? Over the past few years, numerous evidence-based studies were undertaken to assess the clinical validity and utility of emerging genetic testing. A shift in the organization of conventional health infrastructures is also mandatory.
A new model of personalized medicine reference centers decoding the complex information for specific diseases from the information of electronic medical records and using revolutionary decision algorithms to translate this knowledge into medical actions is needed. This review illustrates some of the successes of using personal genomic data in Mendelian and polygenic diseases. Personalized medicine is in its infancy and is also moving steadily forward, but many challenges remain. We hope this review will encourage clinicians to be active contributors in this medical revolution.
We thank Arkan Al Abadi for his suggestions at the early stage of this manuscript and his editing of the manuscript. We also thank the reviewers for their helpful comments. The authors confirm that this article content has no conflict of interest.
National Center for Biotechnology Information , U. Published online May. Author information Article notes Copyright and License information Disclaimer. This is an open access article licensed under the terms of the Creative Commons Attribution Non-Commercial License http: This article has been cited by other articles in PMC. Abstract The rapid decline of sequencing costs brings hope that personal genome sequencing will become a common feature of medical practice.
Clinical utility, ethics, next generation sequencing, pharmacogenetics, prediction, personalized medicine. Mendelian Diseases Until the advent of high-throughput technology, positional cloning and candidate gene approach were the primary methodologies by which approximately 2, genes causing Mendelian diseases were identified [ 44 , 45 ]. Common Diseases Unlike Mendelian diseases, the predictive value of common genetic variants with modest effects identified by GWAS is limited in the context of common diseases.
Pharmacogenetics Traditionally, clinical trials classify patients into different groups on the basis of symptoms e. Cancers Cancer is a common disease that is standing on the frontier of personalized medicine. Accuracy of Prediction GWAS have identified numerous genetic variants associated with common diseases, pharmacogenetic studies have discovered many variants associated with the efficacy or hazards of a drug in a specific group of individuals, and plenty of gene-expression signatures have been reported to predict the outcomes of treatment; however, only a small portion of them have been approved for clinical use.
Cost-Effectiveness of Genomic Tests Cost-effectiveness, which assesses whether a new diagnostic tool or a new drug is worth of its investment, is a critical concern for a health agency in allocation of limited health resources. Gene Patenting and Prediction A gene patent gives the owner of the gene exclusive rights for its application in research, diagnosis and therapeutics for 17 to 20 years and excludes anyone else from making, using or selling it. Ethical and Legal Issues Many ethical and legal issues should be considered in the course of implementation of genetic and genomic testing [ 85 ].
The genuine works of Hippocrates. Strachan T, Read A, editors. Garrod's inborn errors of metabolism. N Engl J Med. Initial sequencing and analysis of the human genome. The sequence of the human genome. International Human Genome Sequencing Consortium. Finishing the euchromatic sequence of the human genome. Integrating common and rare genetic variation in diverse human populations. An integrated map of genetic variation from 1. Population screening in the age of genomic medicine. Sir Francis Galton and the birth of eugenics.
In the Name of Eugenics: Genetics and the Uses of Human Heredity. Gender and compulsory sterilization programs in America: Am J Med Genet A. Julius Hallervorden and the Nazi programme of 'euthanasia'.
Neuroscience in Nazi Europe part I: Can J Neurol Sci. Neuroscience in Nazi Europe part II: Resistance against the third reich. Oxford University Press; Caulfield T, Robertson J.
Genetic policies in Alberta: From the systematic to the systemic. Eugenic sterilizations in Japan and recent demands for an apology: Andermann A, Blancquaert I. A primer for primary care. Cystic fibrosis transmembrane conductance regulator and the etiology and pathogenesis of cystic fibrosis.
Phenotypic plasticity and the epigenetics of human disease. Without a definite diagnosis, the patient will seek a variety of examinations and treatments which are actually useless. This signature provides a powerful tool to allow the clinicians to avoid adjuvant systemic therapy to a specific group of patients with low metastatic scores. In this third article, we discuss the evolution of personalized medicine and illustrate the most recent success in the fields of Mendelian and complex human diseases. It assesses the validity of evidence from P4 and is useful in guiding policy making [ ].
Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice. The meaning and use of the area under a receiver operating characteristic ROC curve. Evaluating the yield of medical tests. A reader's guide to the interpretation of diagnostic test properties: Clinical example of sepsis.
Depression in Alzheimer's disease: J Geriatr Psychiatry Neurol. Use and misuse of the receiver operating characteristic curve in risk prediction. Estimation of newborn risk for child or adolescent obesity: Lessons from longitudinal birth cohorts. Genetic information and the prediction of incident type 2 diabetes in a high-risk multiethnic population: Limitations of the odds ratio in gauging the performance of a diagnostic. Polymorphisms associated with cholesterol and risk of cardiovascular events. Genotype score in addition to common risk factors for prediction of type 2 diabetes. Performance of common genetic variants in breast-cancer risk models.
Comments on 'Evaluating the added predictive ability of a new marker: Evaluating the added predictive ability of a new marker. Exome sequencing and the genetic basis of complex traits. De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
Patterns and rates of exonic de novo mutations in autism spectrum disorders. Targeted capture and massively parallel sequencing of 12 human exomes. Botstein D, Risch N.
Discovering genotypes underlying human phenotypes: Past successes for mendelian disease. Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.
Activating mutations in the ABCC8 gene in neonatal diabetes mellitus. Focus on insulin secretion. Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6. Molecular diagnosis of neonatal diabetes mellitus using next-generation sequencing of the whole exome. Strategies for exome and genome sequence data analysis in disease-gene discovery projects. Exome sequencing identifies the cause of a mendelian disorder. Making a definitive diagnosis: Successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease.
Structural basis of caspase inhibition by XIAP: Differential roles of the linker versus the BIR domain. A method and server for predicting damaging missense mutations. Jostins L, Barrett JC. Genetic risk prediction in complex disease. Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Common genetic variation and human traits. Cardiovascular disease risk prediction with and without knowledge of genetic variation at chromosome 9p Assessing the combined impact of 18 common genetic variants of modest effect sizes on type 2 diabetes risk.
Hundreds of variants clustered in genomic loci and biological pathways affect human height. Common SNPs explain a large proportion of the heritability for human height. Bayesian inference analyses of the polygenic architecture of rheumatoid arthritis.
From disease association to risk assessment: An optimistic view from genome-wide association studies on type 1 diabetes. American Psychiatric Association; Diagnostic and Statistical Manual of Mental Disorders. Philos Ethics Humanit Med. Finding the missing heritability of complex diseases. Rare and common variants: Rare variants of IFIH1. Extended haplotype association study in Crohn's disease identifies a novel. Ashkenazi Jewish-specific missense mutation in the NF-kappaB pathway gene. Dysfunction of lipid sensor GPR leads to obesity in both mouse and human. Evaluating empirical bounds on complex disease genetic architecture.
Predictive testing for complex diseases using multiple genes: The predictive capacity of personal genome sequencing. Comment on "the predictive capacity of personal genome sequencing". Golan D, Rosset S. Personal omics profiling reveals dynamic molecular and medical phenotypes. Genomic medicine New frontiers and new challenges. Fluoxetine pharmacogenetics in child and adult populations. Eur Child Adolesc Psychiatry. The role of pharmacogenetics in the metabolism of antiepileptic drugs Pharmacokinetic and therapeutic implications.
Warfarin pharmacogenetics A rising tide for its clinical value. Estimation of the warfarin dose with clinical and pharmacogenetic data. J Am Coll Cardiol. A randomized and clinical effectiveness trial comparing two pharmacogenetic algorithms and standard care for individualizing warfarin dosing CoumaGen-II. Use of pharmacogenetic and clinical factors to predict the therapeutic dose of warfarin. Role of pharmacogenomics in the management of traditional and novel oral anticoagulants. A pharmacogenetic versus a clinical algorithm for warfarin dosing. A randomized trial of genotype-guided dosing of warfarin.
Efficacy and safety of cholesterol-lowering treatment: Prospective meta-analysis of data from Characteristics of a randomized trial among myocardial infarction survivors.
SLCO1B1 variants and statin-induced myopathy--a genomewide study. Association between CYP2C19 polymorphism and depressive symptoms. CYP2C19 variation and citalopram response. Remission rates following antidepressant therapy with bupropion or selective serotonin reuptake inhibitors: A meta-analysis of original data from 7 randomized controlled trials. Olesen OV, Linnet K. Studies on the stereoselective metabolism of citalopram by human liver microsomes and cDNA-expressed cytochrome P enzymes.
Citalopram and desmethylcitalopram in vitro: Human cytochromes mediating transformation. Pharmacokinetics of citalopram in relation to the sparteine and the mephenytoin oxidation polymorphisms. Pharmacogenetics of antidepressants and antipsychotics: The contribution of allelic variations to the phenotype of drug response. Genomic medicine--an updated primer. Pharmacogenomic biomarker information in drug labels approved by the United States food and drug administration: Prevalence of related drug use. Statement of the American Society of Clinical Oncology: Genetic testing for cancer susceptibility.
Adopted on Februar American Society of Clinical Oncology policy statement update: Genetic and genomic testing for cancer susceptibility. BRCA mutation frequency and penetrance: J Natl Cancer Inst. Personalized medicine and therapies for the future: Yale J Biol Med. Genomics and the continuum of cancer care. Identification of molecular subtypes of glioblastoma by gene expression profiling.
Molecular portraits of human breast tumours. Breast cancer classification and prognosis based on gene expression profiles from a population-based study. Phenotypic plasticity and the epigenetics of human disease. Human microRNA genes are frequently located at fragile sites and genomic regions involved in cancers. MicroRNAs in personalized cancer therapy. The epigenomics of cancer. Personalized medicine is what this book is about-tailoring your lifestyle, food, medicines, treatments, and reproductive choices to your genetic signature.
Silverman, MD, PhD, "The desire to influence the sex of the next child is probably as old as recorded history. Ericsson devised patented methods by which X and Y sperm can be separated through filtering processes. Sperm are "layered" over a column of human serum albumin, and they swim down the gradient where they are collected in the bottom layer. It is effective 70? Empower consumers by interpreting DNA testing and learning more about infant gender choice by genetics. Read more Read less. Here's how restrictions apply. About the Author Anne Hart is a freelance medical, health, and nutrition journalist corresponding with physicians and geneticists.
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