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Updated: Aug 30, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Medical genetics to genomic medicine
1Department of Pediatrics, The Johns Hopkins University, School of Medicine, USA.
Abstract:
The essay analyses the conceptual and methodological implication of genetics and genomics as applied to medicine. Genomic medicine calls attention to the genome as the ultimate source of life's continuity and variety; and indicates at the least the origin of disease in molecular and genetic variation, and at the most, the role of the genes in all variation, including disease. While the literature of medical genetics, genomics, genomics and proteomics is energized by a keen anticipation of discovery most physicians are still thinking to the genes as merely another proximate cause. To them the thought that functional genomics and genetics are at the heart of life, is needed, based on a more evolutionary oriented views which recognize the individuality and heterogeneity of disease, the continuity of disease expression at the clinical level, and the multiplicity and integration of pathogenetic processes.
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