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Next Generation Sequencing:
Emerging Clinical Applications
and Global Markets
Jul 2013 • BIO126A
Use this report to:
Receive an in-depth analysis of the clinical next generation sequencing (NGS) industry,
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an emerging industry with enormous market potential.
Receive information on NGS technologies and clinical application.
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Receive information on industry structure and important clinical sequencing initiatives.
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Receive detailed patent analysis and company profiles.
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To place an order for
Next Generation
Sequencing: Emerging
Clinical Applications and
Global Markets
call 866-285-7215
July 2013
Report ID: BIO126A
Highlights
The next generation sequencing market reached $231.7 million in 2012. The market is
expected to reach $510.7 million in 2013 and $7.6 billion in 2018 for a compound annual
growth rate (CAGR) of 71.6%.
This report provides:
An overview of the global market for next-generation sequencing and its emerging clinical
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applications
Analyses of global market trends, with data from 2012, estimates for 2013, and projections of
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compound annual growth rates (CAGRs) through 2018
Examination of the sequencing industry structure for the key market segments, as well as
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strategic alliances and acquisitions, as well as evaluations of sequencing patents
Discussion of the strategies of the main companies in the market
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Comprehensive company profiles of major players in the segment.
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SAMPLE FIGURE
CLINICAL NEXT GENERATION SEQUENCING MARKET BY DISEASE CLASS, 2012-2018
($ MILLIONS)
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Introduction & Scope
INTRODUCTION
STUDY GOALS AND OBJECTIVES
BCC Research’s goal for this study is to provide an in-depth analysis of the clinical next
generation sequencing (NGS) industry, an emerging industry with enormous market
potential. The approach of analyzing the industry is taken in terms of workflow (e.g.,
sequencers, sequence capture, informatics) and key indications where NGS diagnostics
will have market share by 2018.
BCC Research examines the markets for NGS diagnostics for the years 2012, 2013 and
2018.
The global NGS diagnostic markets are characterized and quantified by disease
indication, test complexity, test purpose and geography.
Market segments that provide exciting growth opportunities include cancer, rare
To place an order for
Next Generation
Sequencing: Emerging
Clinical Applications and
Global Markets
call 866-285-7215
July 2013
Report ID: BIO126A
genetic diseases and prenatal screening.
The report provides a comprehensive discussion of NGS technologies, clinical
applications, industry structure, important clinical sequencing initiatives, global
markets, patent status and companies. The report is designed to aid companies in their
strategic planning efforts for clinical genetic testing.
REASONS FOR DOING THE STUDY
The Human Genome Project (HGP) moved DNA sequencing technology to the forefront
of life science research as a genetic analysis tool. The HGP relied heavily on Sanger
sequencing by capillary electrophoresis to decipher the DNA sequence of the bases in
the human genome.
The HGP led to significant improvements in the efficiency and costs of DNA
sequencing. During this time period, the sequencing industry consolidated, resulting in
one dominant company, Applied Biosystems (now Life Technologies).
Beginning in 2005, the launch of next generation sequencing technologies radically
changed the structure of the industry and opened up exciting new market
applications. The costs of sequencing have rapidly reduced to the point where it is now
feasible for complex NGS tests to be priced in the range of other multiplex genetic
tests.
As a result, opportunities emerged in clinical applications that are currently reaching
fruition. The NGS clinical market is still relatively young and emerging, yet it holds
great commercial promise.
Clinical value has been shown for many applications, and several launched tests are
having good commercial success. This shows that both patients and physicians are
recognizing the value of NGS tests. Several molecular genetic tests that have been
successful on non-NGS formats will run on NGS platforms in the future.
At the same time, payors and insurance companies are beginning to provide coverage
for these tests, further enhancing their commercial potential.
These technical and market factors are driving this market so that in 2013, it is timely
to examine the clinical segment of the sequencing industry.
CONTRIBUTION OF THE STUDY AND INTENDED AUDIENCE
This report fills a gap in the industry because its sole focus is on clinical applications
run on next generation sequencing instruments. The industry is still emerging, so
there is little information available regarding the applications for which NGS platforms
will be used.
The report provides a roadmap for understanding the ways in which next generation
sequencing will be used in the diagnostic business during the next five years. It is a
useful guide for strategic and business planning, as well as for learning about the
impact new sequencing technologies will have in clinical diagnostics.
This market report will be useful to many companies involved in the clinical, genetic
testing and sequencing industries. It will be particularly valuable for companies in such
industries as life science research tools, NGS instruments, molecular diagnostics,
informatics clinical laboratories, pharmaceutical, biotechnology, microfluidics,
lab-on-a-chip and sample preparation.
SCOPE AND FORMAT
The scope of the report includes clinical NGS technologies, applications, industries,
initiatives, patents and companies. The markets for NGS-based diagnostics are given
for the years 2012, 2013 and 2018.
This report reviews the main sequencing technologies and explains why genetic
variation is important in clinical testing. It then discusses some of the top research
To place an order for
Next Generation
Sequencing: Emerging
Clinical Applications and
Global Markets
call 866-285-7215
July 2013
Report ID: BIO126A
initiatives that are contributing to clinical NGS applications. Market driving forces are
also discussed.
The report examines the markets by test complexity, indication and test purpose. Test
complexity refers to the multiplexing (e.g., the number of genes covered) and
coverage (e.g., the extent to which the genome is covered) of the test. Examining the
market by test complexity provides valuable insight into which products (e.g., sample
preparation, NGS instrument, informatics) will be in demand in the future.
The report provides market data and forecasts for NGS diagnostics by specific
applications, including those for cancer, rare diseases, common diseases, and pre- and
post-natal screening.
Specific geographic markets are discussed, including North America, Europe, China,
Japan and the rest of the world.
Market data covers the years 2012, 2013 and 2018.
Industry sectors analyzed include NGS instruments, target enrichment, informatics,
clinical laboratories and the prenatal screening industry.
More than 110 companies in the clinical NGS industry are profiled in this report.
BCC Research provides a summary of the main industry acquisitions and strategic
alliances from 2011 through 2013, including key alliance trends.
METHODOLOGY
Both primary and secondary research methodologies were used in preparing this
study. BCC Research examined each of the key end-user market segments that will be
commercially important during the next five years: cancer, rare genetic disorders,
common disorders, and pre- and post-natal screening.
Based on this analysis, the current and future applications of NGS technologies are
evaluated in each of the major clinical market segments and sales revenues are
forecast for 2013 through 2018.
Based on analysis of both secondary and primary market sources, as well as the key
trends in the industry, the report provides the current and projected market size for the
various clinical NGS segments for the years 2012, 2013 and 2018.
INFORMATION SOURCES
BCC Research performed both primary and secondary research for this report. Primary
sources included key industry companies and leading research institutions. In addition,
data were compiled from secondary sources, including company websites and industry,
trade and government publications.
ANALYST CREDENTIALS
John Bergin is the author of previous BCC biotechnology reports titled Epigenomics:
Emerging Opportunities in Biomarkers, Diagnostics and Therapeutics; Global Biochip
Markets: Microarrays and Lab-on-a-chip; RNA Interference in the Post-Genomics Era:
Markets and Technologies; DNA Sequencing: Emerging Technologies and Applications;
Biologic Imaging Reagents: Technologies and Global Markets; and Synthetic Biology:
Emerging Global Markets.
Mr. Bergin has held business development, sales and marketing positions with a
Fortune 500 advanced materials company, as well as executive management positions
with an emerging nanotechnology company. Mr. Bergin holds a BS degree in
Chemistry, an MS degree in Biotechnology and a Masters of Business Administration.

To place an order for
Next Generation
Sequencing: Emerging
Clinical Applications and
Global Markets
call 866-285-7215
July 2013
Report ID: BIO126A
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DISCLAIMER
The information developed in this report is intended to be as reliable as possible at the
time of publication and of a professional nature. This information does not constitute
managerial, legal or accounting advice; nor should it serve as a corporate policy guide,
laboratory manual or an endorsement of any product, as much of the information is
speculative in nature. The author assumes no responsibility for any loss or damage
that might result from reliance on the reported information or from its use.
Related Reports
• BIO045D DNA Sequencing: Emerging Technologies and Applications
• BIO049D Global Biochip Markets: Microarrays and Lab-on-a-Chip
• BIO059B Epigenomics: Emerging Opportunities in Biomarkers, Diagnostics and
Therapeutics
• BIO066B Synthetic Biology: Emerging Global Markets
• BIO063A DNA Diagnostics: Technologies and Global Markets
• PHM044B Personalized Medicine: Technologies and the Global Market
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