Abstract
Summary
This report deals with cytogenetics in a broader sense rather than the
classical use mainly to describe the chromosome structure and identify
abnormalities related to disease. In the age of molecular biology, it is also
referred to as molecular cytogenetics. Historical landmarks in the evolution
of cytogenetics are reviewed since the first images of chromosomes were made
in 1879. The scope of cytogenetics includes several technologies besides
fluorescence in situ hybridization (FISH), comparative genomic hybridization
(CGH), and multicolor FISH. Molecular cytogenetics includes application of
nanobiotechnology, microarrays, real-time polymerase chain reaction (PCR), in
vivo imaging, and single molecule detection. Bioinformatics is described
briefly as it plays an important role in analyzing data from many of these
technologies.
FISH remains the single most important technology in cytogenetics. Several
innovations are described of which the most important are single copy FISH, in
vivo FISH (imaging of nucleic acids in living cells) and nanotechnology-based
FISH. The unique character of peptide nucleic acid (PNA) allows these probes
to hybridize to target nucleic acid molecules more rapidly and with higher
affinity and specificity compared with DNA probes. PNA-FISH is more suited for
rapid diagnosis of infections. RNA-FISH and locked nucleic acids (LNAs), are
also described.
Microarray/biochip-based technologies for cytogenetics promise to speed up
detection of chromosome aberrations now examined by FISH. Other important
genomic technologies are whole genome expression array and direct molecular
analysis without amplification. Analysis of single-cell gene expression
promises a more precise understanding of human disease pathogenesis and has
important diagnostic applications. Optical Mapping can survey entire human
genomes for insertions/deletions, which account for a significantly greater
proportion of genetic variation between closely-related genomes as compared to
single nucleotide polymorphisms (SNPs), and are a major cause of gene defects.
Technologies encompassed within molecular imaging include optical imaging,
magnetic resonance imaging (MRI) and nuclear medicine techniques. Positron
emission tomography (PET) is the most sensitive and specific technique for
imaging molecular pathways in vivo in humans. Cytogenetics can be refined by
application of cytogenetics at single molecule level. Nanotechnology has
facilitated the development of technology for single molecule imaging. Atomic
force microscope (AFM) has become a well-established technique for imaging
single biomolecules under physiological conditions. The scanning probe
microscope (SPM) system is emerging as an increasingly important tool for
non-intrusive interrogation of biomolecular systems in vitro and have been
applied to improve FISH. Another example of application of nanobiotechnology
is QD (quantum dot)-FISH probes, which can detect down to the single molecule
level.
There are connections between cytogenetics and biomarkers of genetic disorders
as well as cancer. Biomarkers are very important for molecular diagnostics.
Not only are molecular diagnostic technologies used for discovery of
biomarkers, biomarkers are the basis of several diagnostics. As a means to
understand pathomechanism of disease and as links between diagnostics and
therapeutics, biomarkers are playing a role in development of personalized
medicine. Application of cytogenetics extend beyond genetic disorder and
cancer to diagnosis of several other diseases. Other important applications
are drug discovery, and development of personalized medicine.
The chapter on markets provides a global perspective of the cytogenetics
business in the major markets: US, Western Europe (including France, Germany,
Italy, Spain, and the UK), and Japan. The total figures for the market are
also broken out according to the technologies and major disease areas in which
they are applied. Markets figure are given for the year 2008 and estimates are
made for the years 2013 and 2018. Advantages and limitations of various
technologies have been pointed out throughout the report but this chapter
includes SWOT (Strengths, Weaknesses, Opportunities and Threats) analysis of
some of the competing technologies including the following: conventional FISH,
innovative FISH technologies, PCR-based assays, and single molecule imaging.
Unfulfilled needs in cytogenetics market are depicted graphically. Among
various technologies, FISH is most advanced and less opportunities for further
development than single molecule detection, which is in infancy and has more
future potential.
The report includes summary profiles of 63 companies relevant to cytogenetics
along with their collaborations. Companies developing innovative technologies
as well as those supplying equipment/services/reagents are identified.The
report text is supplemented with 26 Tables and 9 figures. Selected 180
references are included in the bibliography.
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