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2016 ; 127
(22
): 2665-71
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Personalized medicine in thrombosis: back to the future
#MMPMID26847245
Nagalla S
; Bray PF
Blood
2016[Jun]; 127
(22
): 2665-71
PMID26847245
show ga
Most physicians believe they practiced personalized medicine prior to the
genomics era that followed the sequencing of the human genome. The focus of
personalized medicine has been primarily genomic medicine, wherein it is hoped
that the nucleotide dissimilarities among different individuals would provide
clinicians with more precise understanding of physiology, more refined diagnoses,
better disease risk assessment, earlier detection and monitoring, and tailored
treatments to the individual patient. However, to date, the "genomic bench" has
not worked itself to the clinical thrombosis bedside. In fact, traditional
plasma-based hemostasis-thrombosis laboratory testing, by assessing functional
pathways of coagulation, may better help manage venous thrombotic disease than a
single DNA variant with a small effect size. There are some new and exciting
discoveries in the genetics of platelet reactivity pertaining to atherothrombotic
disease. Despite a plethora of genetic/genomic data on platelet reactivity, there
are relatively little actionable pharmacogenetic data with antiplatelet agents.
Nevertheless, it is crucial for genome-wide DNA/RNA sequencing to continue in
research settings for causal gene discovery, pharmacogenetic purposes, and
gene-gene and gene-environment interactions. The potential of genomics to advance
medicine will require integration of personal data that are obtained in the
patient history: environmental exposures, diet, social data, etc. Furthermore,
without the ritual of obtaining this information, we will have depersonalized
medicine, which lacks the precision needed for the research required to
eventually incorporate genomics into routine, optimal, and value-added clinical
care.