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Next Generation Sequencing: Emerging Clinical Applications and Global Markets
Date:7/25/2013

rare 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
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