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Harrison's Principles of Internal Medicine, 18e
| Part 3. Genes, the Environment, and Disease > |
Chapter 61. Principles of Human Genetics
Sections: Impact of Genetics on Medical Practice, Further Readings.
Topics Discussed: human genetics; molecular biology and genetics.
Excerpt:"The beginning of the new millennium was marked by the announcement that the vast majority of the human genome had been sequenced. This milestone in the exploration of the human genome was preceded by numerous conceptual and technologic advances. They include, among others, the elucidation of the DNA double-helix structure, the discovery of restriction enzymes and the polymerase chain reaction (PCR), the development and automatization of DNA sequencing, and the generation of genetic and physical maps by the Human Genome Project (HGP). The consequences of this wealth of knowledge for the practice of medicine are profound. First, the most significant impact of genetics has been to enhance our understanding of disease etiology and pathogenesis. However, genetics is playing an increasingly prominent role in the diagnosis, prevention, and treatment of disease (Chap. 63). Genetic approaches have proven invaluable for the detection of infectious pathogens and are used clinically to identify agents that are difficult to culture such as mycobacteria, viruses, and parasites. In many cases, molecular genetics has improved the feasibility and accuracy of diagnostic testing and is beginning to open new avenues for therapy, including gene and cellular therapy (Chaps. 68 and 67). Molecular genetics..."
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