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Jan 1, 2011 (Vol. 31, No. 1)

Improving Diagnostics-Related Informatics

Completion of the Human Genome Project Has Upped the Ante

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    Historical overview of clinical diagnosis from cell-based assays to molecular diagnosis. Molecular diagnosis meets present clinical demand and provides relevant clinical information beyond identification.

    There are more than 2.7 million clinical samples processed daily in the U.S. for infectious diseases, genetic predisposition, and cancer. Currently, only around 10% of these tests are completed with commercially available test kits. The remaining samples are tested with a wide range of methods ranging from hanging drop and Gram staining to ELISA and culture. Due to their expense, molecular methods are mainly used for genetic predisposition and cancer-related assays.

    This variability has created a fragmented market, where results are subject to varying degrees of sensitivity/specificity and test results are reported over a two- to seven-day period. These factors further fragment the market, increasing the cost of testing, and compromising patient care.

    Completion of the Human Genome Project (HGP) led to the formation of the bioinformatics discipline, which has now become the backbone of all life science applications including diagnosis. This article reviews the new field of diainformatics, or bioinformatics for diagnostic purposes.

    As a result of technological advancements, diagnosis is rapidly moving toward molecular analysis.

    Nucleotides are the building blocks of all genomes, and the order in which they are linked together defines a genome and its function. It is not only the structure of DNA that must be ascertained, the order of nucleotides must be determined as well. This need was intelligently fulfilled by Sir Frederick Sanger who developed Sanger sequencing, which was instrumental in the success of the HGP.

    The existence of variation within genomes is now well known. Variations include microbial targets, human genetic factors that are predisposed to diseases, and mutations that predict effectiveness to chemotherapy. Researchers now need to further their understanding of these variations in order to properly diagnose patients and manage treatment.

Readers' Comments

Posted 01/03/2011 by Wouter

"The late Fred Sanger"? That may be a little premature.

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