BookGeorge Jabboure Netto, Iris Schrijver, editor.
Summary: Genomic Applications in Pathology provides 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 are discussed together with issues related to reporting, including the pathologist?s role in interpretation and clinical integration of genomic tests results. Genomic applications for site-specific solid tumors and hematologic neoplasms are detailed, as well as genomic applications in pharmacogenomics, inherited genetic diseases, and infectious diseases. The latest iteration of practice recommendations and guidelines in genomic testing, put forth by stakeholder professional organizations such as the Association for Molecular Pathology and the College of American Pathologists, are also discussed in the volume, as well as regulatory issues and laboratory accreditation related to genomic testing. Written by experts in the field, Genomic Applications in Pathology provides a comprehensive resource that is of great value to practicing molecular pathologists, hematopathologists, other subspecialized pathologists, general pathologists, pathology trainees, oncologists, and geneticists.
Contents:
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
Implementation of Genomic Sequencing Assays
Regulatory and Reimbursement Issues in Genomic Testing
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 Assays
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 Breast Carcinoma
Genomic Applications in Pulmonary Malignancies
Genomic Applications in Colorectal and Pancreatic 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 Inherited Genetic Disorders
Genomic Applications in Pharmacogenomics
Sequencing Cell Free DNA in the Maternal Circulation to Screen for Down Syndrome and Other Common Aneuploidies
Genomic Applications in the Clinical Management of Infectious Diseases. .