Molecular diagnosis represents one of the most rapidly developing fields in medicine owing to advances in the understanding of genetics and its relationship with human disease. Through the development of powerful technologies for nucleic acids analyses, molecular diagnosis has disseminated to almost all medical disciplines. Renowned experts from European countries participating at this specialized EFCC Course have presented the state-of-the-art of molecular methods used in different clinical settings. The integrated knowledge of the authors, experts in different fields, such as molecular diagnosis in inherited disease and in pharmacotherapy as well as new technologies, ethics and quality assessment in molecular diagnosis, printed in the Course textbook, provides recent news in the field to the reader.
The contents of textbook is divided into three chapters. The chapter on Molecular Diagnosis in Inherited Disease covers the following topics: Prenatal diagnosis of chromosomal disorders � molecular aspects; Postnatal molecular diagnosis of inherited diseases; Risk assessment; and Global approach to biomedicine: functional genomics and proteomics. The chapter on Molecular Diagnosis in (Pharmaco)Therapy contains the topics: Pharmacogenomics and personalized medicine; Dose adjustments based on CYP450 enzyme pharmacogenetics; Pharmacogenetics of drug receptors; and Application of pharmacogenetics in dose individualization in diabetes, psychiatry, cancer and cardiology. The last chapter entitled New Technology Methods, Ethics, and Quality Assessment in Molecular Diagnosis, addresses the topics of Point-of-care molecular diagnosis: a near future?; Circulating nucleic acids as a diagnostic tool; European quality assessment networks in molecular diagnosis; and Ethics and legal issues in genetic testing.
The present Course textbook will hopefully help the readers in their and our efforts to further harmonize the new trends in the diagnosis, monitoring and management using molecular diagnosis methods to the benefit of patients.
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