Main description:

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:

1. Current Massively Parallel Sequencing Technologies: Platforms and Reporting Considerations
John R. ten Bosch, Wayne W. Grody

2. Emerging Next Generation Sequencing Technologies
Matthew W. Anderson

3. Transcriptome Sequencing (RNA-Seq)
Sugganth Daniel, Alberto Paniz-Mondolfi, Federico A. Monzon

4. miRNA Expression Assays
Cornelia Braicu , Beatriz M. Maia, Ioana Berindan-Neagoe, George A. Calin

5. Circulating Tumor Cells: Enrichment and Genomic Applications
Marija Balic and Richard J. Cote

6. Circulating Cell-free DNA for Molecular Diagnostics and Therapeutic Monitoring
Julia A. Beaver and Ben H. Park

7. Genomic Pathology: Training for New Technology
Richard L. Haspel

8. Implementation of Genomic Sequencing Assays
Joshua L. Deignan

9. Regulatory and Reimbursement Issues in Genomic Testing
Jan A. Nowak

10. Patents and Proprietary Assays
Roger D. Klein

11. Ethical Issues in Clinical Genetics and Genomics
Henry T. Greely

12. Transitioning Discoveries from Cancer Genomics Research Laboratories into Pathology Practice
Tamara Jamaspishvili, Jeremy A. Squire

13. Bioinformatics Tools in Clinical Genomics
David K. Crockett, Karl V. Voelkerding

14. Next Generation Sequencing for Single Gene Analysis
Hao Ho, Christopher D. Gocke

15. Next Generation Sequencing for Gene Panels
Michael O. Dorschner

16. Implementation of Exome Sequencing Assays
Arunkanth Ankala, Madhuri R. Hegde

17. Implementation of Genome Sequencing Assays
Tina M. Hambuch, Carri-Lyn Mead

18. Clinical Information Systems in the Era of Personalized Medicine
Jonathan Nowak, Lynn Bry

19. Reporting Clinical Genomic Assay Results and the Role of the Pathologist
Janina A. Longtine

20. Genomic Applications in Hematologic Oncology
Kevin E. Fisher and Charles E. Hill

21. Genomic Applications in Brain Tumors
Matija Snuderl

22. Genomic Applications in Head and Neck Cancers
Sun M. Ahn, Nishant Agrawal

23. Genomic Applications in Breast Carcinoma
Leticia de Mattos-Arruda, Britta Weigelt, Jorge S. Reis-Filho

24. Genomic Applications in Pulmonary Malignancies
Reinhard Buttner, Margarete Odenthal, Sabine Merkelbach-Bruse

25. Genomic Applications in Colorectal and Pancreatic Tumors
Andreas Jung, Ralph Hruban

26. Molecular Pathology of Genitourinary Cancers: Translating the Cancer Genome to the Clinic
Joshua I. Warrick, Scott A. Tomlins

27. Genomic Applications in Gynecologic Malignancies
Sarah Chiang, Luciano G. Martelotto, Britta Weigelt

28. Genomic Applications in Epithelial Ovarian Malignancies
James D. Brenton

29. Genomic Applications in Soft Tissue Sarcomas
Eva Wardelmann, Wolfgang Hartmann

30. Genomic Applications in Inherited Genetic Disorders
Brian L. Krock, Rong Mao, D. Hunter Best, Elaine Lyon

31. Genomic Applications in Pharmacogenomics
Rehan Qayyum

32. Sequencing Cell Free DNA in the Maternal Circulation to Screen for Down Syndrome and Other Common Aneuploidies
Glenn E. Palomaki

33. Genomic Applications in the Clinical Management of Infectious Diseases
Martina I. Lefterova, Niaz Banaei, Benjamin A. Pinsky