Netto / Kaul Genomic Applications in Pathology

2. Auflage 2019
ISBN: 978-3-319-96830-8
Verlag: Springer International Publishing
Format: PDF
Kopierschutz: 1 - PDF Watermark

E-Book, Englisch, 821 Seiten, eBook

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 bediscussed 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.

Zielgruppe

Professional/practitioner

Autoren/Hrsg.

Netto, George Jabboure

Kaul, Karen L.

Inhaltsverzeichnis

Practicing Pathology in the Post-Genomic Era: Challenges and Opportunities.- Current Massively Parallel Sequencing Technologies: Platforms and Reporting Considerations.- Emerging Next-Generation Sequencing Technologies.- Transcriptome Sequencing (RNA-Seq).- miRNA Expression Assays.- Circulating Tumor Cells: Enrichment and Genomic Applications.- Circulating Cell-Free DNA for Molecular Diagnostics and Therapeutic Monitoring.- Genomic Pathology: Training for New Technology.- Clinical Implementation of Next Generation Sequencing (NGS) Assays.- Regulatory and Reimbursement Issues Related to Genomic Testing Services.- Patents and Proprietary Assays.- Ethical Issues in Clinical Genetics and Genomics.- Transitioning Discoveries from Cancer Genomics Research Laboratories into Pathology Practice.- Bioinformatics Tools in Clinical Genomics.- Next Generation Sequencing for Single-Gene Analysis.- Next-Generation Sequencing for Gene Panels.- Implementation of Exome Sequencing Assay.- Implementation of Genome Sequencing Assays.- Clinical Information Systems in the Era of Personalized Medicine.- Reporting Clinical Genomic Assay Results and the Role of the Pathologist.- Genomic Applications in Hematologic Oncology.- Genomic Applications in Brain Tumors.- Genomic Applications in Head and Neck Cancers.- Genomic Applications in Thyroid Cancer.- Genomic Applications in Salivary Gland Tumors.- Genomic Applications in Breast Carcinoma.- Genomic Applications in Pulmonary Malignancies.- Genomic Applications in Colorectal Carcinoma.- Genomic Applications in Pancreatic and Gastric Tumors.- Molecular Pathology of Genitourinary Cancers: Translating the Cancer Genome to the Clinic.- Genomic Applications in Gynecologic Malignancies.- Genomic Applications in Epithelial Ovarian Malignancies.- Genomic Applications in Soft Tissue Sarcomas.- Genomic Applications in Melanoma.- Genomic Applications in Inherited Genetic Disorders.- Sequencing Cell Free DNA in The Maternal Circulation to Screen for Down Syndrome, Other Common Trisomies and Selected Genetic Disorders.- Genomic Applications in the Clinical Management of Infectious Diseases.- Pharmacogenomics: Success and Challenges.- The Human Microbiome in Health and Disease.

Über Autor(innen)

George J. Netto University of Alabama at Birmingham Birmingham, AL USA Karen L. Kaul NorthShore University HealthSystem University of Chicago Pritzker School of Medicine Evanston, IL USA