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- 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. . - ArticleBaker SJ.Bull World Health Organ. 1978;56(5):659-75.Nutritional anaemia, due chiefly to iron deficiency, is widely prevalent in many parts of the world. There is increasing evidence that even mild anaemia affects health and reduces productivity and that a high prevalence of anaemia has profound socioeconomic consequences. The pathogenesis of nutritional anaemia is now reasonably well understood. Measures avilable for combating it include: therapeutic supplementation for accessible population groups with a high prevalence of anaemia, such as pregnant women and schoolchildren; iron fortification of one or more widely consumed foodstuffs; management of those conditions, such as hookworm infestation, that increase requirements for haemopoietic nutrients; and education of the public, and of all categories of health personnel, regarding the importance of anaemia and the ways of controlling it. Experience has shown that there is no simple solution to the problem and in each area where iron deficiency anaemia is prevalent it will probably be necessary to develop and combine many or all of these measures. In each community it will be necessary to introduce these measures so that their effectiveness can first be studied in a pilot trial. When this has been successfully completed it should be followed by a field trial under realistic conditions, and only when this has proved successful should a regional or national programme be introduced. However, the problem is complex and it is only by sustained effort of all concerned that it will prove possible to develop adequate public health control of nutritional anaemia.