37mutation detection overlap with technologies for detection of single nucleotide
polymorphisms (SNPs) described later in this chapter. The two most important tech-
nologies relevant to personalized medicine are single nucleotide polymorphism
(SNP) genotyping and microarray/biochip.
PCR-Based Methods
DirectLinear™ Analysis
In DirectLinear™ Analysis, DNA molecules up to megabases in length are tagged
with specifi c fl uorophores and pass through a proprietary microfl uidics system
which stretches them to their full length, causing them to pass through and be read
by the laser excitation and detection region in a linear fashion. The data generated
is equivalent to a genetic “barcode” representing the spatial map of the fl uorescent
tags along the DNA. Each genomic barcode is unique to a specifi c individual or
organism. DirectLinear™ Analysis has numerous potential applications in life sci-
ence research and drug discovery as well as development. Entire genomes of novel
organisms can be mapped nearly instantaneously, inviting comparison with known
genomes and allowing researchers to focus on conserved regions or novel genomic
features. Genetic differences between two samples or populations can readily be
detected by comparing differences in barcode patterns, allowing the rapid identifi -
cation of polymorphisms associated with disease or adverse drug response. Rapid
genomic mapping of microbial organisms will have great utility in infectious dis-
ease research and diagnostics, as well as biodefense. Finally, rapid, low-cost access
to each person’s genomic information is a key to enabling molecular diagnostics
and, ultimately, personalized medicine.
Proteomic-based methods
Fluorescent in situ protein detection
Protein/peptide arrays for identifi cation of multiple biomarkers in blood and tissue samples
Protein biochip technology
Toxicoproteomics
MicroRNA-based diagnostics
Single cell analysis
Single cell PCR
Single cell proteomics
Single cell sequencing
Single cell gene expression
Molecular imaging
Functional magnetic resonance imaging (MRI) with nanoparticle contrast
Fluorodeoxyglucose positron emission tomography (FDG-PET)
Optical imaging
Point-of-care (POC) diagnostics
© Jain PharmaBiotech
Table 2.1 (continued)