Molecular Diagnostics (3^rd Ed.)

Molecular Diagnostics, Third Edition, focuses on the technologies and applications that professionals need to work in, develop, and manage a clinical diagnostic laboratory. Each chapter contains an expert introduction to each subject that is next to technical details and many applications for molecular genetic testing that can be found in comprehensive reference lists at the end of each chapter.

Contents are divided into three parts, technologies, application of those technologies, and related issues. The first part is dedicated to the battery of the most widely used molecular pathology techniques. New chapters have been added, including the various new technologies involved in next-generation sequencing (mutation detection, gene expression, etc.), mass spectrometry, and protein-specific methodologies.

All revised chapters have been completely updated, to include not only technology innovations, but also novel diagnostic applications. As with previous editions, each of the chapters in this section includes a brief description of the technique followed by examples from the area of expertise from the selected contributor.

The second part of the book attempts to integrate previously analyzed technologies into the different aspects of molecular diagnostics, such as identification of genetically modified organisms, stem cells, pharmacogenomics, modern forensic science, molecular microbiology, and genetic diagnosis. Part three focuses on various everyday issues in a diagnostic laboratory, from genetic counseling and related ethical and psychological issues, to safety and quality management.

1. Molecular Diagnostics: Past, Present, and Future 2. Describing DNA Variants (Mutation Nomenclature) 3. Low- and Medium-Throughput Variant Detection Methods: A Historical Perspective 4. Quantitative Polymerase Chain Reaction 5. Integrated Polymerase Chain Reaction Technologies (Sample-to-Answer Technologies) 6. High-Resolution Melting Curve Analysis for Molecular Diagnostics 7. Molecular Techniques for DNA Methylation Studies 8. Perspectives for Future DNA Sequencing Techniques and Applications 9. Advanced Personal Genome Sequencing as the Ultimate Diagnostic Test 10. Application of Padlock and Selector Probes in Molecular Medicine 11. Advances in Microfluidics and Lab-on-a-Chip Technologies 12. Protein Diagnostics by Proximity Ligation: Combining Multiple Recognition and DNA Amplification for Improved Protein Analyses 13. Application of Proteomics to Medical Diagnostics 14. Molecular Cytogenetics in Molecular Diagnostics 15. Cytogenomics of Solid Tumors by Next-Generation Sequencing: A Clinical Perspective 16. Pharmacogenomics in Clinical Care and Drug Discovery 17. Nutrigenomics: Integrating Genomic Approaches Into Nutrition Research 18. DNA Microarrays and Genetic Testing 19. Bioinformatics Tools for Data Analysis 20. Genomic Databases: Emerging Tools for Molecular Diagnostics 21. Molecular Diagnostic Applications in Forensic Science 22. New Perspectives in Mass Disaster Victim Identification Assisted by DNA Typing and Forensic Genomics 23. Preimplantation Genetic Diagnosis 24. Noninvasive Cell-Free DNA Prenatal Testing for Fetal Aneuploidy in Maternal Blood 25. Genetic Testing and Psychology 26. Genomic Medicine in Developing Countries and Resource-Limited Environments 27. Public Understanding of Genetic Testing and Obstacles to Genetics Literacy 28. Safety and the Biorepository 29. Quality Assurance in Genetic Laboratories

George P. Patrinos is Professor of Pharmacogenomics and Pharmaceutical Biotechnology in the University of Patras (Greece), Department of Pharmacy, Head of Division of Pharmacology and Biosciences of the same Department and holds adjunct Full Professorships at Erasmus MC, Faculty of Medicine, Rotterdam (the Netherlands) and the United Arab Emirates University, College of Medicine, Department of Genetics and Genomics, Al-Ain (UAE). Also, since March 2018, he is Chair of the Global Genomic Medicine Collaborative (G2MC) and since May 2023 Chairman of the Scientific Advisory Board of the ASPIRE Abu Dhabi Precision Medicine Research Institute. He has ample regulatory experience, as he served for 12.5 years as Full Member and Greece’s National representative in the CHMP Pharmacogenomics Working Party of the European Medicines Agency (EMA) and he is still an active member of the European Medicines Agency participating in expert panels to provide scientific advice where needed. George is currently Director of the Laboratory of Pharmacogenomics and Individualized Therapy, the first officially established academic pharmacogenomics laboratory in Greece. His group has keen interest in research covering disciplines from wet and dry lab and public health genomics projects, all focusing on pharmacogenomics and personalized medicine. In particular, his research interests involve discovery work and clinical implementation of pharmacogenomics, focusing in particular in psychiatry but also cardiology and oncology, genomics of rare disorders and transcriptional regulation of human fetal globin genes. Moreover, George’s group is internationally recognized for its involvement in developing National/Ethnic Genetic databases to document the genetic heterogeneity in different populations worldwide and of genome informatics tools to translate genomic information into a clinically meaningful format. Also, George’s group has a k

• Presents a comprehensive account of all new technologies and applications used in clinical diagnostic laboratories
• Explores a wide range of molecular-based tests that are available to assess DNA variation and changes in gene expression
• Offers clear translational presentations by the top molecular pathologists, clinical chemists, and molecular geneticists in the field