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Practicing Pathology in the Post-genomic Era: Challenges and Opportunities
Pages 3-11
Punto di Riferimento
per Medici e Operatori Sanitari
per Medici e Operatori Sanitari
LIBRERIA STUDIUM
Genomic Applications in Pathology
Netto, Kaul
Editore
Springer
Anno
2019
Pagine
821
ISBN
9783319968292
200,00 €
DA SCONTARE
The recent advances in genomics are continuing to reshape our approach to diagnostics, prognostics and therapeutics in oncologic and other disorders. A paradigm shift in pharmacogenomics and in the diagnosis of genetic inherited diseases and infectious diseases is unfolding as the result of implementation of next generation genomic technologies. With rapidly growing knowledge and applications driving this revolution, along with significant technologic and cost changes, genomic approaches are becoming the primary methods in many laboratories and for many diseases.
As a result, a plethora of clinical genomic applications have been implemented in diagnostic pathology laboratories, and the applications and demands continue to evolve rapidly. This has created a tremendous need for a comprehensive resource on genomic applications in clinical and anatomic pathology. We believe that our current textbook provides such a resource to practicing molecular pathologists, hematopathologists and other subspecialized pathologists, general pathologists, pathology and other trainees, oncologists, geneticists and a growing spectrum of other clinicians. With periodic updates and a sufficiently rapid time from submission to publication, this textbook will be the resource of choice for many professionals and teaching programs. Its focus on genomics parallels the evolution of these technologies as primary methods in the clinical lab. The rapid evolution of genomics and its applications in medicine necessitates the (frequent) updating of this publication.
This text will provide a state-of-the art review of the scientific principles underlying next generation genomic technologies and the required bioinformatics approaches to analyses of the daunting amount of data generated by current and emerging genomic technologies. Implementation roadmaps for various clinical assays such as single gene, gene panels, whole exome and whole genome assays will be discussed together with issues related to reporting and the pathologist’s role in interpretation and clinical integration of genomic tests results. Genomic applications for site-specific solid tumors and hematologic neoplasms will be detailed. Genomic applications in pharmacogenomics, inherited genetic diseases and infectious diseases will also be discussed. The latest iteration of practice recommendations or guidelines in genomic testing put forth by stakeholder professional organizations such as the College of American Pathology and the Association for Molecular Pathology, will be discussed as well as regulatory issues and laboratory accreditation related to genomic testing. All chapters will be written by experts in their fields and will include the most up to date scientific and clinical information.
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Current Massively Parallel Sequencing Technologies: Platforms and Reporting Considerations
Pages 13-27
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Emerging Next-Generation Sequencing Technologies
Pages 29-39
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Transcriptome Sequencing (RNA-Seq)
Pages 41-63
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miRNA Expression Assays
Pages 65-92
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Circulating Tumor Cells: Enrichment and Genomic Applications
Pages 93-110
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Circulating Cell-Free DNA for Molecular Diagnostics and Therapeutic Monitoring
Pages 111-125
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Genomic Pathology: Training for New Technology
Pages 129-140
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Clinical Implementation of Next-Generation Sequencing (NGS) Assays
Pages 141-148
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Regulatory and Reimbursement Issues Related to Genomic Testing Services
Pages 149-158
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Patents and Proprietary Assays
Pages 159-169
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Ethical Issues in Clinical Genetics and Genomics
Pages 171-186
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Transitioning Discoveries from Cancer Genomics Research Laboratories into Pathology Practice
Pages 189-207
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Bioinformatics Tools in Clinical Genomics
Pages 209-234
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Next-Generation Sequencing for Single-Gene Analysis
Pages 235-244
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Next-Generation Sequencing for Gene Panels
Pages 245-259
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Implementation of Exome Sequencing Assay
Pages 261-281
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Implementation of Genome Sequencing Assays
Pages 283-306
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Clinical Information Systems in the Era of Personalized Medicine
Pages 307-325
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Reporting Clinical Genomic Assay Results and the Role of the Pathologist
Pages 327-342
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Genomic Applications in Hematologic Oncology
Pages 345-367
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Genomic Applications in Brain Tumors
Pages 369-393
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Genomic Applications in Head and Neck Cancers
Pages 395-414
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Genomic Applications in Thyroid Cancer
Pages 415-426
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Genomic Applications in Salivary Gland Tumors
Pages 427-441
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Genomic Applications in Breast Carcinoma
Pages 443-461
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Genomic Applications in Pulmonary Malignancies
Pages 463-502
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Genomic Applications in Colorectal Carcinomas
Pages 503-511
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Genomic Applications in Pancreatic and Gastric Tumors
Pages 513-535
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Molecular Pathology of Genitourinary Cancers: Translating the Cancer Genome to the Clinic
Pages 537-567
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Genomic Applications in Gynecologic Malignancies
Pages 569-602
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Genomic Applications in Ovarian Cancer
Pages 603-618
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Genomic Applications in Soft Tissue Sarcomas
Pages 619-651
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Genomic Applications in Melanoma
Pages 653-693
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Genomic Applications in Inherited Genetic Disorders
Pages 697-720
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Sequencing Cell-Free DNA in the Maternal Circulation to Screen for Down Syndrome, Other Common Trisomies, and Selected Genetic Disorders
Pages 721-749
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Genomic Applications in the Clinical Management of Infectious Diseases
Pages 751-766
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Pharmacogenomics: Success and Challenges
Pages 767-782
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The Human Microbiome in Health and Disease
Pages 783-798
