Diagnostic Molecular Pathology A Guide to Applied Molecular Testing 1st edition by William Coleman, Gregory Tsongalis ISBN 0128008865 978-0128008867

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ISBN 10: 0128008865 
ISBN 13: 978-0128008867
Author: William Coleman, Gregory Tsongalis 

Diagnostic Molecular Pathology: A Guide to Applied Molecular Testing is organized around disease types (genetic disease, infectious disease, neoplastic disease, among others). In each section, the authors provide background on disease mechanisms and describe how laboratory testing is built on knowledge of these mechanisms. Sections are dedicated to general methodologies employed in testing (to convey the concepts reflected in the methods), and specific description of how these methods can be applied and are applied to specific diseases are described.

The book does not present molecular methods in isolation, but considers how other evidence (symptoms, radiology or other imaging, or other clinical tests) is used to guide the selection of molecular tests or how these other data are used in conjunction with molecular tests to make diagnoses (or otherwise contribute to clinical workup). In addition, final chapters look to the future (new technologies, new approaches) of applied molecular pathology and how discovery-based research will yield new and useful biomarkers and tests.

Diagnostic Molecular Pathology: A Guide to Applied Molecular Testing contains exercises to test readers on their understanding of how molecular diagnostic tests are utilized and the value of the information that can be obtained in the context of the patient workup. Readers are directed to an ancillary website that contains supplementary materials in the form of exercises where decision trees can be employed to simulate actual clinical decisions.

• Focuses on the menu of molecular diagnostic tests available in modern molecular pathology or clinical laboratories that can be applied to disease detection, diagnosis, and classification in the clinical workup of a patient
• Explains how molecular tests are utilized to guide the treatment of patients in personalized medicine (guided therapies) and for prognostication of disease
• Features an ancillary website with self-testing exercises where decision trees can be employed to simulate actual clinical decisions
• Highlights new technologies and approaches of applied molecular pathology and how discovery-based research will yield new and useful biomarkers and tests

Diagnostic Molecular Pathology. A Guide to Applied Molecular Testing 1st Table of contents:

1. Introduction to Molecular Pathology

• Overview of molecular pathology and its importance in diagnostics
• Key concepts in molecular biology, genetics, and genomics
• The role of molecular pathology in precision medicine

2. Molecular Techniques and Technologies

• DNA/RNA extraction and preparation
• Polymerase chain reaction (PCR) and its applications
• Next-generation sequencing (NGS) and microarray technologies
• In situ hybridization and fluorescence in situ hybridization (FISH)
• Gene expression analysis and bioinformatics tools

3. Molecular Pathology of Cancer

• Oncogenes, tumor suppressor genes, and mutations in cancer
• Genetic testing for cancer diagnosis, prognosis, and treatment
• Molecular biomarkers in solid tumors (e.g., breast, lung, colorectal cancers)
• Liquid biopsy and circulating tumor DNA (ctDNA)
• The role of molecular pathology in cancer screening

4. Genetic Disorders and Inherited Diseases

• Molecular diagnosis of inherited genetic diseases (e.g., cystic fibrosis, muscular dystrophy)
• Genetic counseling and risk assessment
• Exome sequencing and genome-wide association studies (GWAS)

5. Infectious Disease Testing

• PCR and molecular diagnostics for bacterial, viral, and fungal infections
• Molecular identification of pathogens
• Antimicrobial resistance testing and its molecular basis

6. Diagnostic Applications in Hematology

• Molecular diagnostics in leukemia and lymphoma
• Genetic testing for hematologic malignancies (e.g., mutations, translocations)
• Minimal residual disease (MRD) testing

7. Clinical Applications of Molecular Pathology

• Role of molecular testing in personalized medicine
• Pharmacogenomics and drug resistance testing
• Diagnostic markers for common and rare diseases

8. Quality Control and Validation in Molecular Diagnostics

• Ensuring accuracy and reliability in molecular diagnostic testing
• Laboratory accreditation and regulatory standards (e.g., CLIA, CAP)
• Interpreting molecular test results

9. Emerging Technologies and Future Directions

• CRISPR/Cas9 and gene editing in molecular diagnostics
• Advancements in molecular imaging and other diagnostic technologies
• The future of molecular pathology and the integration of artificial intelligence in diagnostics

10. Ethical, Legal, and Social Implications

• Ethical considerations in genetic testing and molecular diagnostics
• Patient privacy, consent, and data sharing
• The impact of molecular diagnostics on healthcare policies

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