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Genetic and Genomic Approaches to Clinical Medicine 

Genetic and Genomic Approaches to Clinical Medicine
Chapter:
Genetic and Genomic Approaches to Clinical Medicine
Author(s):

Dhavendra Kumar

DOI:
10.1093/med/9780199896028.003.0019
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date: 28 May 2020

An important milestone in the history of medical science is the recent completion of the human genome sequence. The progress on identification of approximately 23,000 genes and their regulatory regions provides the framework for understanding the molecular basis of disease. This advance has also laid the foundation for a broad range of genomic tools that can be applied to medical science. These developments in gene and gene product analysis across the whole genome have opened the way for targeted molecular genetic testing in a number of medical disorders. This is destined to change the practice of medicine: future medical practice will be more focused and individualized, often referred to as ‘personalized medicine’. However, despite these exciting advances, many practicing clinicians perceive the role of molecular genetics, in particular that of medical genomics, as confined to the research arena with limited clinical applications. Genomic medicine applies the knowledge and understanding of all genes and genetic variation in human disease. This chapter introduces genomics-based advances in disease susceptibility screening, diagnosis, prognostication, therapeutics, and prediction of treatment outcome in various areas of medicine.

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