Genomic Tools

The 1970s marked the beginning of a period of remarkable technical innovation that transformed life science research. Numerous methods were developed for identifying and locating genomic lesions of medical importance while other key technologies were designed that made possible the sequencing of the entire genome of humans and those of many other species. The extensive record of research that defines the field is closely tied to the range of innovative technologies that were developed to explore the composition and function of genomic DNA. As a result, modern genetics experienced a period of rapid growth that has prompted reappraisal and redefinition of the field.

Pharmacogenetic traits are revealed by structural lesions in DNA that can be inferred from family inheritance patterns and demonstrated by direct observation. Finding the genic differences that predispose persons to such traits provides clues that differentiate susceptible persons from those who are not, and on the premise of establishing their molecular basis, we hope to achieve better therapies and improve prospects for predictive biology including new drug discoveries and individualized medicine.

Genic lesions relevant to pharmacogenomics range in size from microscopically visible chromosomal rearrangements to deletions and insertions as large as a single gene and as small as a single DNA base. Single base changes, point mutations, or other small changes in DNA composition that lead to functional changes in a protein are most commonly associated with pharmacogenetic traits. Alternative sequences of DNA that occur at an appreciable frequency, usually set at 1% or greater, are termed DNA polymorphisms. Since these polymorphisms occur at specific loci, technologies for detecting and locating them provide the tools for diagnosing susceptible individuals and for assessing their prevalence, mode of inheritance, and significance in individuals and in populations at large.

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