Textbook of Personalized Medicine - Second Edition [2015]

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LabCD


The LabCD (TECAN) is a consumable compact disc with micro-scale fl uid paths,
reaction chambers and valves. Fluid is moved along these pathways by capillary
action and centrifugal forces generated by disc rotation, allowing the processing of
many different assay types. The combination of informatics, bioassays and minia-
turization are what make this “laboratory on a disc” truly revolutionary. The LabCD
system is designed to meet the needs of the rapidly growing point-of-care testing
market. Because of its distinct ability to combine assays utilizing different measure-
ment methods, the LabCD can perform disease state panels from a single patient
sample. In addition to providing immediate diagnostic results at the medical deci-
sion point, the LabCD automates data integration collected at various decentralized
sites. The most important application of LabCD System is to screen for infectious
diseases. In addition to providing automated DNA screening for infectious diseases,
the LabCD will also be unique in its ability to test concurrently for different strains
of the same virus from a single sample. For instance, physicians will be able to run
tests for multiple strains of hepatitis all at the same time, instead of ordering them
separately. The ability to identify the strain of a virus can have profound implica-
tions for clinical therapy.


SNP Genotyping


High-resolution genome wide association studies using panels of 300,000 to 1 mil-
lion SNPs aim to defi ne genetic risk profi les of common diseases. These studies
provide an opportunities to explore pathomechanism of human diseases that are
unbiased by previous hypotheses or assumptions about the nature of genes that
infl uence complex diseases. Many genetic variants identifi ed as risk factors for dis-
eases by such studies have been localized to previously unsuspected pathways, to
genes without a known function.
In the absence of functional information about which polymorphisms are bio-
logically signifi cant, it is desirable to test the potential effect of all polymorphisms
on drug response. Potential uses of SNP markers include drug discovery and predic-
tion of adverse effects of drugs. Role of SNPs in personalized medicine is shown in
Fig. 2.6.
SNP have the following relation to an individual’s disease and drug response:



  • SNPs are linked to disease susceptibility.

  • SNPs are linked to drug response, e.g. insertions/deletions of ACE gene deter-
    mine the response to beta blockers.

  • SNPs can be used as markers to segregate individuals with different levels of
    response to treatment (benefi cial or adverse) in clinical settings.


Role of Molecular Diagnostics in Pharmacogenetics

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