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Diseases are being reclassified, thanks to the integration of “omics”. Nosology, the medicinal science that deals with the classification of disease, is embracing the technological revolution of omics: the fields that end in “-omics.” Genomics, for example, is emerging as a powerful tool that can be used in the classification of disease, and builds on previous technological advances that utilized anatomy and microbiology to define pathologic disease. Genomic information (about an individual’s genetic makeup) can enable us to categorize disease, understand pathology, and target treatment accordingly. Knowledge of each person’s unique DNA sequence is bound to further personalize healthcare and treatment decisions. With advances in genomic science, ailments that once seemed dissimilar are being joined together under a single focus. And, what were once thought to be uniform diseases are being differentiated. For example, we can now define cancer based on aberrant genomic signatures, rather than simply on the anatomical origin of a tumour. Another example: cystic fibrosis can result from more than 900 mutations in the CTFR gene, and a drug has been developed that is particularly effective at addressing a specific, cystic fibrosis-related mutation. Rapid and relatively inexpensive genome sequencing, along with bioinformatics tools, are driving the new Personalized Medicine paradigm. The challenge will be to efficiently incorporate this genomic information into routine healthcare.

Redefining Health and Disease


Precision/Personalized Medicine