Diagnostic genetic testing: core concepts and the wider context for human DNA analysis
Gespeichert in:
| 1. Verfasser: | |
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| Format: | Buch |
| Sprache: | English |
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Cham
Springer
[2022]
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| Online-Zugang: | Inhaltsverzeichnis Klappentext |
| Beschreibung: | XXII, 131 Seiten Illustrationen |
| ISBN: | 9783030855123 |
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Datensatz im Suchindex
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| adam_text | Contents 1 Genetic Testing, Some Themes and Some Basics Genetic Testing Complexity: Genes and Environment Risk and Uncertainty DNA and Categorisation Future Promises and Concerns Genetics in Other Areas of Medicine Basic Concepts in Genetics DNA Stores Information that Can Be Copied Genomic Architecture Gene Function and Organisation Within Genomes Transcription, Translation and the Genetic Code Mutation Patterns of Inheritance: Autosomal Dominant and Autosomal Recessive X-linked Inheritance Some Basics of Genetic Testing Isolation of DNA Finding Mutations Finding a Complementary Sequence The Polymerase Chain Reaction and DNA Amplification Electrophoresis DNA Sequencing 1 1 3 4 4 6 7 7 8 9 12 14 15 17 17 18 18 19 19 20 21 XV
xvi Contents Autosomal Dominant Inheritance and Huntington Disease Huntington Disease A Very Specific Genetic Error A Gain of Function Why Expansions? Determinism, but with Complications Anticipation Genetic Testing for HD Test Sensitivity and Specificity The Value of Genetic Testing for HD Laboratory Errors Genetic Information and Families 23 23 24 25 26 27 28 28 29 31 33 34 3 Autosomal Recessive Inheritance and Cystic Fibrosis Contrasting Dominant and Recessive Conditions Cystic Fibrosis Many Different Genetic Errors: Some with Variable Effects Common Recessive Disorders Genetic Testing for CF The Value of Genetic Testing in CF Prenatal Diagnosis Therapies for CF and Genetic Testing Calculating Risks Scenario 1 Scenario 2 37 37 38 38 39 42 43 47 48 49 49 49 4 X-linked Inheritance: A Question of Gender A Fundamental Imbalance Switching Off Genes on the Inactive X Chromosome Inheritance of X-linked Genetic Disorders Three X-linked Genes Associated with Genetic Disorders X-linked Example 1: The DMD Gene and Duchenne Muscular Dystrophy/Becker Muscular Dystrophy The Spectrum and Significance of Mutations in the DMD Gene Testing for DMD Gene Mutations X-linked Example 2: The FMRI Gene, Fragile X Syndrome and Other Phenotypes Multiple Conditions Are Associated with FMRI Gene Mutations Transmission of Fragile X Syndrome 51 51 52 53 54 2 55 55 58 61 62 63
Contents Testing for FMRI Gene Mutations X-linked Example 3: The Androgen Receptor (AR) Gene, Spinal and Bulbar Muscular Atrophy and Androgen Insensitivity Syndrome SBMA: A Trinucleotide Expansion Disorder AIS: Loss of Function Mutations in the AR Gene Genetics and Gender xvii 63 64 64 66 66 Genetic Testing in Cancer Cancer as a Genetic Disease Inherited Cancer Predisposition Tumor Suppressor Genes BRCA1 and BRCA2 as Tumor Suppressor Genes Oncogenes Cytogenetics and Cancer Testing Chromosome Analysis The Philadelphia Chromosome Rapid Detection of Specific Gene Fusions and Other Chromosomal Rearrangements in Cancers by FISH Genetic Testing in Cancer Diagnosis and Treatment 69 69 72 73 73 75 76 76 78 6 DNA Testing, Genetics and Identity Identity Testing in the Diagnostic Genetic Laboratory Diagnostic Applications for Genetic Identity Testing Direct Testing of Identity Family Relationships Identity in Twins Avoiding Errors in Prenatal Diagnosis Monitoring Bone Marrow Transplants DNA as a Marker of Unique Personal Identity Widening Circles Identity as a Member of Humanity 83 83 85 85 85 86 87 88 91 92 94 7 Out of Sequence: Genome-Scale Testing Whole Genome Analyses Sanger Sequencing Diagnostic Sanger Sequencing Applications Next-Generation Sequencing (NGS) Diagnostic Applications of New Sequencing Technologies Trio Analysis and New Mutations Genomic Analysis in Cancer NGS, Clonal Sequencing and Finding a Needle in a Haystack 5 79 81 97 97 98 99 103 103 104 105 105
xviii 8 Contents Finding New Disease Associations Comparative Genomics Third-Generation (Long-Read) Sequencing Limitations to the Utility of Genome-Scale Sequencing Confounding Factors: Complexity of Common Disease Confounding Factors: Lots of Variation, Many Rare Variants Confounding Factors: Complex Metabolic Networks Epigenetic Regulation: A Further Level of Complexity The Risk of False Positives Will WGS Improve Outcomes for Common Disorders? Genomic Testing in Mainstream Medicine: Because We Can Rather Than Because We Should? 106 107 108 109 1Ю 111 114 115 116 117 DNA Testing: Pulling the Strands Together Diagnostic Genetics and Ethical Principles Consent in the Genomic Era Making Genetic Choices Compartmentalisation on Genetic Grounds Commercial Access to Genetic Testing Acknowledging Uncertainties and Avoiding Error The Value of Genetic Testing The Language of Genetics: Uses and Misuses Genetics and Society 121 121 123 124 125 127 127 129 130 131 119
Diagnostic Genetic Testing Core Concepts and the Wider Context for Human DNA Analysis Over the last decade, technical advances have allowed genomic testing which provides a great opportunity for diagnosis but also an increased chance of uncertain or unex pected findings. This book addresses many of the questions that arise in this context and summarizes the essential concepts in diagnostic genetic testing in an easy-to-read manner. It also covers some broad context for the practical and ethical implications of examining human DNA sequences. The book starts with a general introduction to the field, providing enough background to allow readers without any previous education in genetics to comprehend the material in the subsequent chapters. The main part explores differing aspects of human genetics and the wider implications of testing in these areas. The author covers not only single gene inheritance, but also genetic testing of cancers and how testing benefits the patients. Special emphasis is also given to the questions of genetics and identity. The concluding part then draws the main themes together and summarises the wider significance of genetics. It also explores the gap between promises made for the impact of advances in genetics, and the actual benefits to patients. The book is written for everyone interested to learn about the process of genetic test ing and the broader implications. Moreover, it is aimed at health professionals with an interest in genetics, at students or scientific trainees looking for an introduction to diagnostic genetics, and at professionals
in health policy or health journalism.
|
| adam_txt |
Contents 1 Genetic Testing, Some Themes and Some Basics Genetic Testing Complexity: Genes and Environment Risk and Uncertainty DNA and Categorisation Future Promises and Concerns Genetics in Other Areas of Medicine Basic Concepts in Genetics DNA Stores Information that Can Be Copied Genomic Architecture Gene Function and Organisation Within Genomes Transcription, Translation and the Genetic Code Mutation Patterns of Inheritance: Autosomal Dominant and Autosomal Recessive X-linked Inheritance Some Basics of Genetic Testing Isolation of DNA Finding Mutations Finding a Complementary Sequence The Polymerase Chain Reaction and DNA Amplification Electrophoresis DNA Sequencing 1 1 3 4 4 6 7 7 8 9 12 14 15 17 17 18 18 19 19 20 21 XV
xvi Contents Autosomal Dominant Inheritance and Huntington Disease Huntington Disease A Very Specific Genetic Error A Gain of Function Why Expansions? Determinism, but with Complications Anticipation Genetic Testing for HD Test Sensitivity and Specificity The Value of Genetic Testing for HD Laboratory Errors Genetic Information and Families 23 23 24 25 26 27 28 28 29 31 33 34 3 Autosomal Recessive Inheritance and Cystic Fibrosis Contrasting Dominant and Recessive Conditions Cystic Fibrosis Many Different Genetic Errors: Some with Variable Effects Common Recessive Disorders Genetic Testing for CF The Value of Genetic Testing in CF Prenatal Diagnosis Therapies for CF and Genetic Testing Calculating Risks Scenario 1 Scenario 2 37 37 38 38 39 42 43 47 48 49 49 49 4 X-linked Inheritance: A Question of Gender A Fundamental Imbalance Switching Off Genes on the Inactive X Chromosome Inheritance of X-linked Genetic Disorders Three X-linked Genes Associated with Genetic Disorders X-linked Example 1: The DMD Gene and Duchenne Muscular Dystrophy/Becker Muscular Dystrophy The Spectrum and Significance of Mutations in the DMD Gene Testing for DMD Gene Mutations X-linked Example 2: The FMRI Gene, Fragile X Syndrome and Other Phenotypes Multiple Conditions Are Associated with FMRI Gene Mutations Transmission of Fragile X Syndrome 51 51 52 53 54 2 55 55 58 61 62 63
Contents Testing for FMRI Gene Mutations X-linked Example 3: The Androgen Receptor (AR) Gene, Spinal and Bulbar Muscular Atrophy and Androgen Insensitivity Syndrome SBMA: A Trinucleotide Expansion Disorder AIS: Loss of Function Mutations in the AR Gene Genetics and Gender xvii 63 64 64 66 66 Genetic Testing in Cancer Cancer as a Genetic Disease Inherited Cancer Predisposition Tumor Suppressor Genes BRCA1 and BRCA2 as Tumor Suppressor Genes Oncogenes Cytogenetics and Cancer Testing Chromosome Analysis The Philadelphia Chromosome Rapid Detection of Specific Gene Fusions and Other Chromosomal Rearrangements in Cancers by FISH Genetic Testing in Cancer Diagnosis and Treatment 69 69 72 73 73 75 76 76 78 6 DNA Testing, Genetics and Identity Identity Testing in the Diagnostic Genetic Laboratory Diagnostic Applications for Genetic Identity Testing Direct Testing of Identity Family Relationships Identity in Twins Avoiding Errors in Prenatal Diagnosis Monitoring Bone Marrow Transplants DNA as a Marker of Unique Personal Identity Widening Circles Identity as a Member of Humanity 83 83 85 85 85 86 87 88 91 92 94 7 Out of Sequence: Genome-Scale Testing Whole Genome Analyses Sanger Sequencing Diagnostic Sanger Sequencing Applications Next-Generation Sequencing (NGS) Diagnostic Applications of New Sequencing Technologies Trio Analysis and New Mutations Genomic Analysis in Cancer NGS, Clonal Sequencing and Finding a Needle in a Haystack 5 79 81 97 97 98 99 103 103 104 105 105
xviii 8 Contents Finding New Disease Associations Comparative Genomics Third-Generation (Long-Read) Sequencing Limitations to the Utility of Genome-Scale Sequencing Confounding Factors: Complexity of Common Disease Confounding Factors: Lots of Variation, Many Rare Variants Confounding Factors: Complex Metabolic Networks Epigenetic Regulation: A Further Level of Complexity The Risk of False Positives Will WGS Improve Outcomes for Common Disorders? Genomic Testing in Mainstream Medicine: Because We Can Rather Than Because We Should? 106 107 108 109 1Ю 111 114 115 116 117 DNA Testing: Pulling the Strands Together Diagnostic Genetics and Ethical Principles Consent in the Genomic Era Making Genetic Choices Compartmentalisation on Genetic Grounds Commercial Access to Genetic Testing Acknowledging Uncertainties and Avoiding Error The Value of Genetic Testing The Language of Genetics: Uses and Misuses Genetics and Society 121 121 123 124 125 127 127 129 130 131 119
Diagnostic Genetic Testing Core Concepts and the Wider Context for Human DNA Analysis Over the last decade, technical advances have allowed genomic testing which provides a great opportunity for diagnosis but also an increased chance of uncertain or unex pected findings. This book addresses many of the questions that arise in this context and summarizes the essential concepts in diagnostic genetic testing in an easy-to-read manner. It also covers some broad context for the practical and ethical implications of examining human DNA sequences. The book starts with a general introduction to the field, providing enough background to allow readers without any previous education in genetics to comprehend the material in the subsequent chapters. The main part explores differing aspects of human genetics and the wider implications of testing in these areas. The author covers not only single gene inheritance, but also genetic testing of cancers and how testing benefits the patients. Special emphasis is also given to the questions of genetics and identity. The concluding part then draws the main themes together and summarises the wider significance of genetics. It also explores the gap between promises made for the impact of advances in genetics, and the actual benefits to patients. The book is written for everyone interested to learn about the process of genetic test ing and the broader implications. Moreover, it is aimed at health professionals with an interest in genetics, at students or scientific trainees looking for an introduction to diagnostic genetics, and at professionals
in health policy or health journalism. |
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| spelling | Bourn, David ca. 20./21. Jh. Verfasser (DE-588)1278391444 aut Diagnostic genetic testing core concepts and the wider context for human DNA analysis David Bourn Cham Springer [2022] XXII, 131 Seiten Illustrationen txt rdacontent n rdamedia nc rdacarrier Human Genetics Medicine/Public Health, general Bioethics Human genetics Medicine Genanalyse (DE-588)4200230-8 gnd rswk-swf Medizinische Ethik (DE-588)4074672-0 gnd rswk-swf Genanalyse (DE-588)4200230-8 s Medizinische Ethik (DE-588)4074672-0 s DE-604 Erscheint auch als Online-Ausgabe 978-3-030-85510-9 Digitalisierung UB Augsburg - ADAM Catalogue Enrichment application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=033953608&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis Digitalisierung UB Augsburg - ADAM Catalogue Enrichment application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=033953608&sequence=000003&line_number=0002&func_code=DB_RECORDS&service_type=MEDIA Klappentext |
| spellingShingle | Bourn, David ca. 20./21. Jh Diagnostic genetic testing core concepts and the wider context for human DNA analysis Human Genetics Medicine/Public Health, general Bioethics Human genetics Medicine Genanalyse (DE-588)4200230-8 gnd Medizinische Ethik (DE-588)4074672-0 gnd |
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| title | Diagnostic genetic testing core concepts and the wider context for human DNA analysis |
| title_auth | Diagnostic genetic testing core concepts and the wider context for human DNA analysis |
| title_exact_search | Diagnostic genetic testing core concepts and the wider context for human DNA analysis |
| title_exact_search_txtP | Diagnostic genetic testing core concepts and the wider context for human DNA analysis |
| title_full | Diagnostic genetic testing core concepts and the wider context for human DNA analysis David Bourn |
| title_fullStr | Diagnostic genetic testing core concepts and the wider context for human DNA analysis David Bourn |
| title_full_unstemmed | Diagnostic genetic testing core concepts and the wider context for human DNA analysis David Bourn |
| title_short | Diagnostic genetic testing |
| title_sort | diagnostic genetic testing core concepts and the wider context for human dna analysis |
| title_sub | core concepts and the wider context for human DNA analysis |
| topic | Human Genetics Medicine/Public Health, general Bioethics Human genetics Medicine Genanalyse (DE-588)4200230-8 gnd Medizinische Ethik (DE-588)4074672-0 gnd |
| topic_facet | Human Genetics Medicine/Public Health, general Bioethics Human genetics Medicine Genanalyse Medizinische Ethik |
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