Emery and Rimoin s Principles and Practice of Medical Genetics and Genomics Clinical Principles and Applications 7th Edition by Reed Pyeritz, Bruce Korf, Wayne Grody 0128126844 9780128126844

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ISBN-10 :  0128126844 

ISBN-13 :  9780128126844

Author:  Reed E Pyeritz, Bruce R Korf, Wayne W Grody 

For decades, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics into medical practice. With detailed coverage in contributions from over 250 of the world’s most trusted authorities in medical genetics and a series of 11 volumes available for individual sale, the Seventh Edition of this classic reference includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies to complete its coverage of this growing field for medical students, residents, physicians, and researchers involved in the care of patients with genetic conditions. This comprehensive yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine more broadly.Clinical Principles and Applications thoroughly addresses general methods and approaches to genetic counseling, genetic diagnostics, treatment pathways, and drug discovery. Additionally, new and updated chapters explore the clinical implementation of genomic technologies, analytics, and therapeutics, with special attention paid to developing technologies, common challenges, patient care, and ethical and legal aspects.With regular advances in genomic technologies propelling precision medicine into the clinic, the seventh edition of Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics bridges the gap between high-level molecular genetics and practical application and serves as an invaluable clinical tool for the health professionals and researchers.

Emery and Rimoin s Principles and Practice of Medical Genetics and Genomics Clinical Principles and Applications 7th Table of contents:

1 – A Clinical Approach to the Dysmorphic Child
1.1 INTRODUCTION
1.2 PRENATAL VERSUS POSTNATAL ONSET OF DEVELOPMENTAL PROBLEMS
1.3 PRENATAL-ONSET PROBLEMS IN DEVELOPMENT
1.3.1 Single Primary Defect in Development
1.3.2 Malformations
1.3.3 Deformations
1.3.3.1 Intrinsically Derived Prenatal-Onset Deformations
1.3.3.2 Extrinsically Derived Prenatal-Onset Deformations
1.3.4 Disruptive Defects
1.3.5 Dysplasia
1.3.6 Sequence
1.3.7 Multiple Malformation Syndromes
1.3.8 Chromosomal (Copy Number) Abnormalities
1.3.9 Disorders With Known Genetic Etiology
1.3.10 Disorders Caused by Teratogens
1.3.11 Recognized Patterns
1.4 POSTNATAL-ONSET PROBLEMS IN DEVELOPMENT
1.4.1 Genetic
1.4.1.1 Metabolic
1.4.1.2 Central Nervous System Degenerative States
1.4.1.3 Myopathies and Connective Tissue Disorders
1.4.2 Environmental Factors
1.5 CONCLUSION
REFERENCES
2 – Clinical Teratology
2.1 INTRODUCTION
2.1.1 Overview
2.1.2 Mechanisms of Teratogenesis
2.1.3 Genetic Susceptibility to Teratogenic Effects
2.1.4 Characterization of Teratogenic Exposures
2.1.5 Risk Assessment and Counseling for Teratogenic Effects
2.1.5.1 Clinical Settings
2.1.5.2 What Is the Risk?
2.1.5.3 Teratogen Risk Counseling
2.1.5.4 Dealing With Uncertainty
2.2 EVALUATING THE PATIENT AND HER EXPOSURE
2.2.1 Evaluation of the Pregnant Patient for Teratogenic Exposures
2.2.2 Assessing the Scientific Literature
2.2.2.1 Animal Studies
2.2.2.2 Case Reports
2.2.2.3 Case Series
2.2.2.4 Pregnancy Registries
2.2.2.5 Randomized Controlled Trials
2.2.2.6 Cohort Studies
2.2.2.7 Case–Control Studies
2.2.2.8 Record Linkage Studies
2.2.2.9 Ecological Studies
2.2.2.10 Data Synthesis
2.3 RECOGNIZED TERATOGENIC EXPOSURES
2.3.1 Infectious Agents
2.3.1.1 Viruses
2.3.1.1.1 Rubella. Abnormalities associated with prenatal infection with rubella vary substantially
2.3.1.1.2 Cytomegalovirus. Congenital cytomegalovirus (CMV) infection has assumed a position of incr
2.3.1.1.3 Zika virus. ZIKV is a flavivirus, primarily transmitted through infected Aedes aegypti mos
2.3.1.1.4 HIV infection and AIDS. Rates of HIV transmission from mother to fetus range from 15% to 3
2.3.1.1.5 Parvovirus B19. Parvovirus infection causes fifth disease (erythema infectiosum) in childr
2.3.1.2 Bacteria
2.3.1.2.1 Syphilis. Congenital syphilis is certainly the oldest if not the most venerable of the kno
2.3.1.3 Parasites
2.3.1.3.1 Toxoplasmosis. The major risk to the fetus arises from primary toxoplasmosis infections du
2.3.2 Physical Agents
2.3.2.1 Ionizing Radiation
2.3.2.2 Heat
2.3.2.3 Mechanical Factors
2.3.2.3.1 Constraint. Fetal growth or movement may be constrained by a variety of mechanical factors
2.3.2.3.2 Early invasive prenatal diagnosis. Evidence that the mechanical trauma associated with ear
2.3.3 Drug and Chemical Agents
2.3.3.1 Environmental Agents
2.3.3.1.1 Organic mercury compounds. Ingestion by a pregnant woman of food that is heavily contamina
2.3.3.1.2 Other environmental chemicals. Many natural and man-made chemicals have been shown to func
2.3.3.2 “Recreational” Drugs
2.3.3.2.1 Ethyl alcohol. Maternal ethanol consumption during pregnancy can result in a wide spectrum
2.3.3.2.2 Tobacco smoking. Maternal smoking during pregnancy interferes with fetal growth [149,150].
2.3.3.2.3 Cocaine. The extensive medical literature on the effects of maternal cocaine use in pregna
2.3.3.2.4 Caffeine. While caffeine is teratogenic in high doses in some species, no convincing evide
2.3.3.3 Nonprescription Drugs
2.3.3.3.1 Salicylates and other anti-inflammatory drugs. Although aspirin and other salicylate compo
2.3.3.4 Prescription Drugs
2.3.3.4.1 Thalidomide. The most dramatic epidemic of drug-induced birth defects ever recognized occu
2.3.3.4.2 Folic acid antagonists
2.3.3.4.2.1 Aminopterin and methotrexate. An unusual and characteristic pattern of congenital anomal
2.3.3.4.2.2 Trimethoprim and other weak folic acid antagonists. An increased frequency of birth defe
2.3.3.4.3 Anticancer agents. As the therapeutic efficacy of many antineoplastic agents is dependent
2.3.3.4.4 Warfarin anticoagulants. A very uncommon and striking pattern of congenital anomalies has
2.3.3.4.5 Antibiotics and other anti-infective agents. Available studies have generally not revealed
2.3.3.4.5.1 Tetracyclines. Maternal treatment with tetracyclines during the second and third trimest
2.3.3.4.5.2 Aminoglycosides. There is no indication that the risk of malformations in children of wo
2.3.3.4.5.3 Quinine and related antimalarial agents. Maternal use of very high doses of quinine in a
2.3.3.4.5.4 Fluconazole. A few children have been described with a very unusual pattern of congenita
2.3.3.4.6 Anticonvulsants. About 2% of women take anticonvulsant medications during pregnancy [225].
2.3.3.4.6.1 Valproic acid. A characteristic pattern of craniofacial and other anomalies has been obs
2.3.3.4.6.2 Carbamazepine. A fetal anticonvulsant syndrome has also been observed among the children
2.3.3.4.6.3 Other anticonvulsant agents. Phenobarbital is not often used as an anticonvulsant in adu
2.3.3.4.7 Endocrine agents. A number of reports have suggested possible teratogenic effects of treat
2.3.3.4.7.1 Female sex hormones. Diethylstibestrol. Diethylstilbestrol (DES) was widely used in the
2.3.3.4.7.2 Other endocrine-active agents. Clomiphene. Induction of ovulation with clomiphene has be
2.3.3.4.8 Retinoids and vitamin A. Preformed retinoids, including retinol, retinaldehyde, and retino
2.3.3.4.9 Lithium carbonate. Children of women who are treated with lithium during pregnancy appear
2.3.3.4.10 Selective serotonin reuptake inhibitors. Selective serotonin reuptake inhibitors (SSRIs)
2.3.3.4.11 Codeine and other opioid analgesics. A small increase in the frequency of congenital hear
2.3.3.4.12 Misoprostol. Misoprostol is a prostaglandin analogue that is used in the prevention and t
2.3.3.4.13 Mycophenolate mofetil. An unusual pattern of malformations has been repeatedly observed a
2.3.3.4.14 Inhibitors of the renin-angiotensin system
2.3.3.4.14.1 ACE inhibitors. Neonatal renal failure and hypotension as well as fetal anuria resultin
2.3.3.4.14.2 Angiotensin II receptor inhibitors. Losartan, candesartan, valsartan, and other antihyp
2.3.3.4.15 Methylene blue. Up to 20% of twins born after genetic amniocentesis in which methylene bl
2.3.3.4.16 Bendectin (Diclectin). A fixed combination of pyridoxine (vitamin B6) and doxylamine (an
2.3.3.5 Maternal Metabolic Factors
2.3.3.5.1 Inadequate folic acid intake. The recognition that the risk of many malformations, includi
2.3.3.5.2 Diabetes mellitus. The principal maternal metabolic disorder that raises concern for the d
2.3.3.5.3 Phenylketonuria. From 75% to 90% of children of women with phenylketonuria (PKU) who are n
2.3.3.5.4 Obesity. Obesity is usually defined in relationship to height as the body mass index [BMI=
2.3.3.6 Autoimmune and Isoimmune Disease
2.4 PATERNAL EXPOSURES AND MATERNAL EXPOSURES BEFORE OR SHORTLY AFTER CONCEPTION
2.5 FUTURE PERSPECTIVE
2.6 CONCLUSION
REFERENCES
3 – Neurodevelopmental Disabilities: Global Developmental Delay, Intellectual Disability, and Autism
3.1 INTELLECTUAL DISABILITY AND GLOBAL DEVELOPMENTAL DELAY
3.2 GLOBAL DEVELOPMENTAL DELAY
3.3 DEFINITION OF A DIAGNOSIS
3.4 WHOLE EXOME SEQUENCING
3.5 WHOLE GENOME SEQUENCING
3.6 PHENOTYPING
3.7 GENETIC MECHANISMS OF ID
3.8 DIAGNOSTIC TESTING OF PATIENTS WITH ID OF UNKNOWN CAUSE
3.9 CYTOGENOMIC COPY NUMBER ABNORMALITIES
3.10 X-LINKED ID
3.11 FRAGILE X SYNDROME
3.12 AUTISM SPECTRUM DISORDERS
3.13 INBORN ERRORS OF METABOLISM AND ID
3.14 CNS MALFORMATIONS, INTELLECTUAL DISABILITY AND BRAIN IMAGING
3.15 SUMMARY
REFERENCES
4 – Abnormal Body Size and Proportion
GLOSSARY
4.1 INTRODUCTION
4.2 APPROACH TO THE PATIENT WITH ABNORMAL STATURE
4.3 MECHANISMS OF GROWTH
4.3.1 Genome Instability
4.3.1.1 Defects of DNA Repair
4.3.1.2 Defects of Cell Replication
4.3.2 Signaling Pathways Involved in the Regulation of Growth
4.3.2.1 Hedgehog Signaling
4.3.2.2 BMP Antagonists
4.3.2.3 Other Signaling Cascades
4.3.3 Epigenetic Contributions to Abnormal Growth
4.3.3.1 Chromatin Remodeling by Nucleosome Complexes
4.3.3.2 DNA Methylation and Imprinted Genes
4.3.3.3 Gene Silencing
4.4 PATHOLOGIC SHORT STATURE
4.4.1 Proportionate Prenatal-Onset Short Stature
4.4.1.1 Syndromic Short Stature
4.4.1.2 Chromosomal Disorders
4.4.1.3 Defects of DNA Repair
4.4.1.4 Cohesionopathies
4.4.2 Proportionate Short Stature of Postnatal Onset
4.4.2.1 Intrinsic Systemic Mechanisms of Proportionate Postnatal Short Stature: Biopsychosocial Feat
4.4.2.2 Extrinsic Mechanisms of Proportionate Postnatal Short Stature
4.4.2.3 RASopathies
4.4.3 Disproportionate Short Stature
4.5 PATHOLOGIC OVERGROWTH
4.5.1 Generalized Overgrowth Disorders
4.5.1.1 Prenatal-Onset Overgrowth
4.5.1.1.1 Beckwith-Wiedermann Spectrum. BWS is the most common congenital overgrowth syndrome, with
4.5.1.1.2 Simpson-Golabi-Behmel Syndrome (SGBS). This distinctive X-linked syndrome with partial exp
4.5.1.1.3 Overgrowth syndromes linked to epigenetic mechanisms. Whole exome sequencing has been frui
4.5.1.1.3.1 Cerebral gigantism (Sotos syndrome). Is associated with prenatal-onset overgrowth and af
4.5.1.1.3.2 NFIX-related Syndromes
4.5.1.1.3.3 Weaver Spectrum and PRC2 related Overgrowth Syndromes. In Weaver syndrome, overgrowth is
4.5.1.1.3.4 DNMT3A-related Overgrowth (Tatton Brown Rahman Syndrome TBRS OMIM#615879). DNMT3A encode
4.5.1.1.4 PP2A related overgrowth. Eukaryotic phosphatases can be divided into three superfamilies:
13972567874.5.1.1.5 Phosphoinositide-3 kinase1397059140related overgrowth disorders. Phosphoinositid
4.5.1.1.6 PTEN Spectrum. PTEN hamartoma tumor syndrome is an umbrella term used to cover the continu
4.5.1.1.7 Overgrowth Syndromes Diagnosed by Sequencing. Array CGH has been found to be useful in the
4.6 CONCLUSION
REFERENCES
5 – Cytogenetic Analysis
5.1 INTRODUCTION
5.2 MILESTONES IN HUMAN CYTOGENETICS
5.3 INDICATIONS FOR CYTOGENETIC ANALYSIS
5.4 TISSUE SAMPLES AND CELL CULTURE
5.5 CHROMOSOME BANDING
5.6 NORMAL HUMAN KARYOTYPE
5.7 CHROMOSOME ABNORMALITIES
5.8 IN SITU HYBRIDIZATION
5.8.1 DNA Probes and Their Applications
5.8.2 Molecular Substitutes for Multiprobe FISH Tests
5.8.3 DNA Fiber-FISH
5.8.4 FISH Nomenclature
5.8.5 Comparative Genomic Hybridization
5.8.6 Array-Based Genomic Analysis
5.8.7 ARRAY Nomenclature
5.8.8 Detection of Structural Variation by Genome and Exome Sequencing
ACKNOWLEDGMENTS
REFERENCES
6 – Diagnostic Molecular Genetics*
6.1 INTRODUCTION
6.2 INDICATIONS FOR MOLECULAR GENETIC TESTING
6.2.1 Diagnostic Testing
6.2.2 Newborn Screening
6.2.3 Prenatal Diagnosis
6.2.4 Carrier Testing and Screening
6.2.5 Presymptomatic/Predisposition Testing
6.3 TECHNICAL APPROACHES TO MOLECULAR GENETIC TESTING
6.3.1 Specimen Collection
6.3.2 Selection of Technique
6.3.2.1 Detection of Known Point Mutations
6.3.2.2 Detection of Large Deletions
6.3.2.3 Detection of Trinucleotide Repeat Expansions
6.3.2.4 Detection of Heterogeneous or Unknown Mutations
6.3.2.5 Detection of Unknown Disease Genes
6.3.2.6 Interpretation of Novel Sequence Variants
6.4 MOLECULAR GENETIC DIAGNOSIS OF SOME COMMONLY TESTED DISEASES
6.4.1 Cystic Fibrosis
6.4.2 Factor V Leiden and the Hereditary Thrombophilias
6.4.3 Hereditary Hemochromatosis
6.4.4 Hereditary Hemoglobinopathies
6.4.4.1 Structural Globin Disorders
6.4.4.2 Disorders of Globin Synthesis—The Thalassemias
6.4.4.2.1 α-Thalassemia. α-Thalassemia is most commonly due to a deletion of one or more of the fo
6.4.4.2.2 β-Thalassemia. More than 250 different defects in the β-globin gene that result in β-th
6.4.5 Repeat Expansion Disorders
6.4.5.1 Selected Specific Repeat Expansion Disorders
6.4.5.1.1 Spinobulbar muscular atrophy. SBMA, known also as Kennedy disease, is a motor neuron disor
13972567876.4.5.1.2 Huntington disease. The unstable CAG repeat in HD patients lies in exon 1 of the
6.4.5.1.3 Dentatorubral-pallidoluysian atrophy. DRPLA results in both ataxia and choreoathetosis, al
6.4.5.1.4 Spinocerebellar ataxias. The SCAs are a group of genetically diverse neurologic conditions
6.4.5.1.5 Fragile X syndrome. Fragile X syndrome is caused by a large expansion of CGG repeats in th
6.4.5.1.6 Myotonic dystrophy. Myotonic dystrophy (DM) is the most common inherited muscle disorder i
13972567876.4.5.1.7 Friedreich ataxia. Friedreich ataxia, the only autosomal recessive condition amo
6.4.5.1.8 Amyotrophic lateral sclerosis/frontotemporal dementia. Perhaps the most important of the n
6.4.5.2 Duchenne and Becker Type Muscular Dystrophies
6.4.5.2.1 Detection of large deletions in patients and carriers. The original method for detecting l
6.4.5.2.2 Detection of microlesions in patients and carriers. One-third of mutations in the dystroph
6.4.6 Prader–Willi and Angelman Syndromes
6.4.7 Familial Cancer Syndromes
6.4.7.1 Familial Breast/Ovarian Cancer
6.4.7.2 Hereditary Nonpolyposis Colon Cancer (Lynch Syndrome)
6.4.7.3 Familial Adenomatous Polyposis
6.4.7.4 Multiple Endocrine Neoplasia
6.4.7.5 Other Dominantly Inherited Cancer Syndromes
6.5 MITOCHONDRIAL DNA DISORDERS
6.6 OTHER TARGETS OF MOLECULAR GENETIC SCREENING
6.7 PHARMACOGENETIC TESTING
6.8 QUALITY ASSURANCE, REIMBURSEMENT, AND REGULATORY ISSUES
6.9 INTERNET RESOURCES FOR MOLECULAR GENETIC TESTING
6.9.1 Online Mendelian Inheritance in Man (OMIM)
6.9.2 Genetic Testing Registry
6.9.3 GeneReviews
6.9.4 GeneCards
6.9.5 Human Gene Mutation Database
6.9.6 ClinVar
6.9.7 College of American Pathologists
6.9.8 American College of Medical Genetics and Genomics
6.9.9 Association for Molecular Pathology
6.9.10 ExAC and gnomAD
6.10 SOCIETAL IMPACT OF THE NEW GENETIC TECHNOLOGY
6.11 FUTURE DIRECTIONS
REFERENCES
7 – Therapies for Lysosomal Storage Diseases
7.1 INTRODUCTION
7.2 ENZYME REPLACEMENT THERAPY
7.2.1 Factors Affecting Selection of Candidate Lysosomal Disorders for ERT
7.2.2 ERT: Principles for Effective Treatment
7.3 BONE MARROW TRANSPLANTATION
7.4 SUBSTRATE REDUCTION THERAPY
7.4.1 SRT for Type 1 Gaucher Disease
7.4.2 SRT for Other Lysosomal Storage Disorders
7.4.3 SRT With Miglustat
7.4.3.1 SRT With Cyclodextrins
7.4.4 Conclusions
7.5 PHARMACOLOGIC CHAPERONE THERAPY
7.5.1 Lysosomal Enzyme Biosynthesis and Degradation
7.5.2 Mutations Causing Lysosomal Diseases
7.5.3 Criteria for Rescuable Mutations by PCT
7.5.4 Criteria for Selection of Pharmacologic Chaperones
7.5.5 Experimental Studies of PCT in Lysosomal Disorders
7.5.5.1 PCT for Fabry Disease
7.5.5.1.1 Clinical trials of PCT for Fabry disease. Based on the preclinical studies in Fabry cultur
7.5.6 PCT for Other Lysosomal Diseases
7.5.7 Cotherapy: PCT and ERT
7.6 EMERGING THERAPIES: GENE THERAPY AND GENOME EDITING
7.6.1 HSCT for ExVivo Gene Therapy
7.6.2 In Vivo Gene Therapy
7.6.3 Gene Editing and Genomic Therapy
REFERENCES
8 – Transplantation Genetics
8.1 THE MAJOR HISTOCOMPATIBILITY COMPLEX
8.2 HISTORICAL ITER TOWARD HISTOCOMPATIBILITY DEFINITION
8.2.1 HLA Antigens Can Be Recognized by Antisera
8.2.2 Serologically Characterized HLA Alleles and Loci
8.2.3 Cellularly Characterized HLA Alleles and Loci
8.2.4 Molecularly Characterized HLA Alleles and Loci
8.2.5 Microsphere-Based Technology for HLA Typing
8.2.6 DNA Sequencing Technology for HLA Typing
8.2.7 Next-Generation DNA Sequencing for HLA Typing
8.3 CURRENTLY MOST USED METHODS FOR HLA TYPING
8.3.1 Antibody Reactivity of the Patient Awaiting Transplant
8.3.2 The CDC Crossmatch
8.3.3 The Flow Cytometry Crossmatch
8.3.4 The Virtual Crossmatch
8.3.5 Solid-Phase Immunoassays
8.4 CLINICAL SIGNIFICANCE OF HLA MOLECULAR TYPING
8.4.1 Epitope-Based Matching
8.5 STEM CELLS AND TRANSPLANTATION
8.6 CONCLUDING REMARKS
REFERENCES
9 – Genetic Evaluation for Common, Chronic Disorders of Adulthood
9.1 BACKGROUND
9.2 OUTCOMES OF GENETIC SERVICES
9.3 THE PROCESS OF GENETIC CONSULTATION FOR COMMON, CHRONIC DISEASES OF ADULTHOOD
9.3.1 Clinical Assessment
9.3.2 Family History Assessment
9.3.3 Genetic Testing
9.3.4 Management and Prevention Strategies
9.3.5 Genetic Counseling and Education
9.4 GENETIC HEALTHCARE MODELS
9.5 SUMMARY
REFERENCES
10 – Carrier Screening and Heterozygote Testing
GLOSSARY
10.1 INTRODUCTION
10.2 CARRIER SCREENING IN CLINICAL PRACTICE
10.2.1 Reproductive Screening and Testing Options
10.2.2 Cascade Testing
10.2.3 Reduced Disease Incidence
10.3 CARRIER SCREENING IN INDIVIDUALS OF DEFINED SUBPOPULATION GROUPS
10.3.1 Tay–Sachs Disease
10.3.2 Hemoglobinopathies
10.3.3 β-Thalassemia
10.3.4 Sickle Cell Disease
10.3.5 Cystic Fibrosis
10.3.6 Spinal Muscular Atrophy
10.3.7 Expanded Carrier Screening
10.3.7.1 Methods and Tissues
10.4 THERAPEUTIC IMPLICATIONS FOR HETEROZYGOTES
10.5 SENSITIVITY AND SPECIFICITY
10.6 COST AND FEASIBILITY
10.7 GENETIC COUNSELING AND INFORMED CONSENT
10.7.1 Timing of Carrier Screening
10.7.2 Age for Carrier Screening
10.8 CONCLUSIONS
ACKNOWLEDGMENTS
REFERENCES
11 – Circadian Rhythms and Disease
11.1 INTRODUCTION
11.2 MOLECULAR MECHANISMS
11.3 CENTRAL AND PERIPHERAL CLOCKS
11.4 CIRCADIAN DISEASES
11.4.1 Intrinsic Circadian Disorders
11.4.2 Extrinsic Circadian Disorders
11.5 METABOLIC AND CARDIOVASCULAR DISORDERS
11.5.1 Molecular Interactions Between the Clock Network and Metabolic Processes on a Cellular Level
11.5.2 Interactions Between the Circadian System and Energy Homeostasis on a Systems Level
11.5.3 Circadian Rhythm Disruption and Metabolic Disorders at an Organism Level
11.5.4 Circadian Clock and Cardiovascular Disorders
11.6 CANCER
11.7 PSYCHOLOGIC AND NEUROLOGIC DISEASES AND CIRCADIAN RHYTHMS
11.7.1 Alzheimer Disease
11.7.2 Parkinson Disease
11.7.3 Mood Disorders
11.8 CHRONOTHERAPY
11.8.1 Sleep-Phase Therapy
11.8.2 Pharmaceutical Treatment Scheduling Therapy
11.9 CONCLUDING REMARKS
REFERENCES
12 – The Genomic Health Record: Current Status and Vision for the Future
12.1 INTRODUCTION
12.1.1 The Genomic Medicine Age?
12.1.2 Element 1: Maintain Separation of Primary Molecular Observations From the Clinical Interpreta
12.1.4 Element 3: Maintain Linkage of Molecular Observations to Laboratory Methods Used to Generate
12.1.5 Element 4: Support Compact Representation of Clinically Actionable Subsets for Optimal Perfor
12.1.6 Element 5: Simultaneously Support Human-Viewable Formats and Machine-Readable Formats in Orde
12.1.7 Element 6: Anticipate Fundamental Changes in the Understanding of Human Molecular Variation
12.1.8 Element 7: Support Both Individual Clinical Care and Discovery Science
12.2 CONCLUSION
REFERENCES
13 – Ethical and Social Issues in Clinical Genetics
13.1 INTRODUCTION
13.2 THE HISTORICAL CONTEXT
13.3 GENETIC COUNSELING, TESTING, AND SCREENING
13.3.1 Goals and Outcomes of Genetics Services
13.3.2 Nondirectiveness in Genetic Counseling
13.4 DIAGNOSTIC GENETIC TESTING
13.4.1 Implications for Others
13.4.2 Information of Uncertain Significance
13.5 PREDICTIVE GENETIC TESTING
13.6 CONFIDENTIALITY
13.6.1 Third Parties
13.6.2 Privacy Within the Family
13.7 GENETIC TESTING IN CHILDHOOD
13.7.1 Predictive Testing of Children
13.7.2 Carrier Testing of Children
13.8 POPULATION GENETIC SCREENING
13.8.1 Newborn Screening
13.8.2 Antenatal Screening
13.8.2.1 Goals
13.8.2.2 Decisions in Social Context
13.8.2.3 Entry to Antenatal Screening
13.8.2.4 Disability Issues, Health Economics, and Sex Selection
13.8.2.5 The Future of Antenatal Screening and Reprogenetics
13.8.3 Carrier Screening
13.9 OTHER CHALLENGES IN GENETIC COUNSELING
13.9.1 Religion or Culture?
13.9.2 Decision-Making
13.9.3 Customary Consanguineous Marriage
13.9.4 The Naming of Syndromes
13.9.5 A Duty to Recontact?
13.9.6 Pharmacogenetics, Commercialization, and the Common Complex Disorders
13.9.7 Research in Human Genetics
13.9.7.1 Consent and Feedback
13.9.7.2 Confidentiality
13.9.7.3 Control and Ownership
13.9.8 Genetics, Geneticization, and Society
13.9.9 Reproductive Technologies: “Reprogenetics”
ACKNOWLEDGMENTS
REFERENCES
14 – Genetics and Genomics in Public Health
14.1 WHAT IS PUBLIC HEALTH GENETICS/GENOMICS?
14.2 THE PURPOSES OF PUBLIC HEALTH
14.2.1 Prevent Epidemics and the Spread of Disease
14.2.2 Protect Against Environmental Hazards
14.2.3 Prevent Harm and Injuries
14.2.4 Promote and Encourage Healthy Behaviors and Mental Health
14.2.5 Respond to Disasters and Assist Communities in Recovery
14.2.6 Ensure the Quality and Accessibility of Health Services
14.3 THE PUBLIC HEALTH SYSTEM INFRASTRUCTURE
14.3.1 Assessment
14.3.2 Policy Development
14.3.3 Assurance
14.4 EVOLUTION AND CONVERGENCE OF TWO FIELDS OF SCIENCE—PUBLIC HEALTH AND GENETICS/GENOMICS
14.5 FUTURE DIRECTION FOR PUBLIC HEALTH GENETICS/GENOMICS
REFERENCES
15 – Implementation of Genomic Medicine: An International Perspective
15.1 INTRODUCTION
15.2 LARGE-SCALE GENOMIC MEDICINE INITIATIVES
15.3 NATIONAL GENOMIC MEDICINE INITIATIVES
15.4 LARGE-SCALE REGIONAL GENOME INITIATIVES
15.5 CORPORATE GENOMIC MEDICINE INITIATIVES
15.6 STUDYING FOUNDER POPULATIONS
15.7 CONCLUSIONS AND FUTURE PERSPECTIVES
15.8 COMPETING INTERESTS

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