EXECUTIVE SUMMARY
Unlike traditional in vitro diagnostics, whose role is largely confined to
diagnosis and monitoring of a restricted range of diseases, molecular
diagnostics are establishing themselves as effective tools for all aspects
of disease management, especially in areas of unmet clinical need. Based on
sensitive detection of disease- and often individual-specific biomarkers,
they provide an opportunity to intercept the disease process early,
stratify patients for treatment and/or predict treatment success. Depending
on the clinical situation, DNA sequences, DNA methylation patterns, gene
expression profiles, proteins, protein expression, or combinations of
these, may all be used as biomarkers.
The first generation of molecular diagnostics on the market utilize
established technology platforms - immunoassays and probe-based nucleic
acid testing (NAT). While the world market for in vitro diagnostic products
(IVDs) as a whole is forecast to increase from $36.5 billion in 2005 to
$53.6 billion in 2010 (AGR of 8.0%), the molecular diagnostic segments
analyzed in this Report, will significantly outperform the market, growing
from $13.8 billion in 2005 to $22.7 billion in 2010 (AGR of 10.4%). Sales
of nucleic acid-based tests are expected to grow much more quickly than
immunoassays. Leading manufacturers of immunoassay and nucleic acid testing
products include (in descending order by market share) Roche Diagnostics,
Abbott Laboratories, Johnson & Johnson, Beckman Coulter, Bayer Diagnostics,
Becton Dickinson, Dade Behring, and bioMerieux.
Advances in biomarker detection technologies are examined in this Report.
Molecular diagnostics increasingly utilize multiplexing platforms such as
DNA microarrays that perform parallel biomarker analyses in order to
provide more comprehensive clinical information. During the last two years
the FDA approved the first DNA microarray instrumentation system for in
vitro diagnostic use (Affymetrix's GeneChip System 3000Dx), and the first
highly multiplexed diagnostic microarrays: Roche's AmpliChip CYP450 test
and two cystic fibrosis tests - Tm Bioscience's Tag-It and Osmetech's
eSensor. Although they have yet been approved by the FDA, tests based on
transcriptomic profiling have also debuted successfully on the market.
This Report offers a comprehensive coverage of clinical applications of
first- and next-generation molecular diagnostics. All major clinical
markets are reviewed, with particular emphasis on commercial products
recently launched and those under development in the areas of infectious
diseases, cardiovascular diseases and cancer. The infectious diseases field
continues to see expanded use of NAT in viral load testing and genotyping,
cervical-cancer (HPV) screening, bacterial detection, and screening of
blood and blood products. Developments in the cardiovascular field are
being driven by the need for reliable cardiovascular risk stratification
and many potential individual biomarkers and panels of biomarkers are under
investigation. In the area of cancer particularly rapid advances have been
made in recent years in proteomic and transcriptional profiling; these
approaches have began to radically alter the way cancer is diagnosed,
classified and treated.
A survey was carried out for this Report to identify US patents and patent
applications filed since 1 January 2000 which deal with the molecular
diagnostics applications of biomarkers. The survey yielded 463 documents.
Its most striking finding was the considerable R&D activity being devoted
to biomarkers of CNS and inflammatory disorders. These do not currently
form significant segments of the world IVD market (unless autoimmunity is
included).
