Human disease classification in the postgenomic era: A complex systems approach to human pathobiology

Loscalzo, Joseph; Kohane, Isaac; Barabasi, Albert-Laszlo

doi:10.1038/msb4100163

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Loscalzo, J., Kohane, I., & Barabasi, A.-L. (2007). Human disease classification in the postgenomic era: A complex systems approach to human pathobiology. Mol. Syst. Biol. 3(1), 124.
Added by: Dr. Enrique Feoli (06/02/2021, 01:02) Last edited by: Dr. Enrique Feoli (06/02/2021, 01:07)

Resource type: Journal Article
DOI: 10.1038/msb4100163
ID no. (ISBN etc.): 1744-4292
BibTeX citation key: Loscalzo2007
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Categories: BioAcyl Corp
Creators: Barabasi, Kohane, Loscalzo
Collection: Mol. Syst. Biol.

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Abstract

Contemporary classification of human disease derives from observational correlation between pathological analysis and clinical syndromes. Characterizing disease in this way established a nosology that has served clinicians well to the current time, and depends on observational skills and simple laboratory tools to define the syndromic phenotype. Yet, this time‐honored diagnostic strategy has significant shortcomings that reflect both a lack of sensitivity in identifying preclinical disease, and a lack of specificity in defining disease unequivocally. In this paper, we focus on the latter limitation, viewing it as a reflection both of the different clinical presentations of many diseases (variable phenotypic expression), and of the excessive reliance on Cartesian reductionism in establishing diagnoses. The purpose of this perspective is to provide a logical basis for a new approach to classifying human disease that uses conventional reductionism and incorporates the non‐reductionist approach of systems biomedicine.

Notes

Diagram indicating associations among genetic and environmental factors reduce and their interactions with intermediate phenotypes to yield distinct pathophenotypes. The intermediate phenotypes determine, in part, variation in disease expression and clinical presentation among individuals with equivalent underlying genetic or environmental exposures that predispose to a disease state.

Added by: Dr. Enrique Feoli Last edited by: Dr. Enrique Feoli