Preface

Molecular pathology now is recognized as an area of pathology specialty practice, with the first molecular genetic pathology board examination having been given by the American Board of Pathology and the American Board of Medical Genetics in November 2001. The anatomic and clinical pathology boards given by the American Board of Pathology also have an increasing emphasis on molecular pathology expertise in general pathology practice. The clinical practice of molecular pathology is becoming fundamental to almost every aspect of healthcare delivery, assisting with diagnosis of disease, therapeutic choice, therapeutic outcome monitoring, prognosis, prediction of disease risk, directing preventive strategies, beginning-of-life choices, patient and specimen identification, and clinical epidemiology. With this growing emphasis on molecular pathology, the publication of a textbook focused on the clinical practice of molecular pathology is very timely.

Molecular Pathology in Clinical Practice addresses all areas of molecular pathology clinical practice in a single textbook: molecular biology basics, genetics, infectious diseases, hematopathology, solid tumors, HLA typing, identity testing, and laboratory management. While other textbooks cover selected aspects of molecular pathology practice, or cover each of the areas of molecular pathology practice in a single chapter, each type of molecular pathology testing is not covered at a level of detail sufficient as a reference for molecular pathology practice. The purpose of this textbook is to provide a comprehensive reference for the practicing molecular pathologist, and to have some level of usefulness for practicing pathologists not specializing in molecular pathology, clinical colleagues, and trainees. This textbook is not meant to be a recipe book for molecular tests currently in clinical practice, simply because the specifics of testing change as new technologies emerge and are applied to clinical practice. Instead, the emphasis is on the molecular variations being detected for clinical use, how test results are used, and clinical and specific laboratory issues that require special attention.

Molecular Pathology in Clinical Practice aims to present the current state of our knowledge about this clinical practice. Because molecular pathology clearly is a rapidly changing field, with our knowledge of genomics increasing exponentially, the textbook likely will need regular updates. Some of the chapters present relatively nascent knowledge that is anticipated to be useful for clinical practice in the future, while other chapters present testing that is better established. My hope, as editor of this textbook, is that many editions will be needed in the future as we continue to apply the fruits of the Human Genome Project to the practice of medicine, resulting in improved outcomes for our patients.

Debra G.B. Leonard, MD, PhD

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