Next-gen sequencing has taken the worldwide biomedical research community by storm. Funding is relatively abundant for the moment, collaborative programs and consortia abound, and early results in many cases appear to justify all the activity. Many observers sense imminent new revelations and even paradigm shifts offering significant improvements in the understanding and treatment of disease. Arguably, insights from -omics studies using pre-NGS technology have provided leads that have been vital in establishing NGS research targets and strategies.
Following an overview of the evolution of NGS, Next-Generation Sequencing Technologies: Applications and Markets turns to an examination of NGS applications in basic and applied research. A great deal of NGS effort today centers on cancer, but other basic research areas stand to benefit as well (e.g., immunogenetic studies, neurological and psychiatric diseases, infectious diseases, metagenomics, evolution). NGS has empowered the growth of epigenomics; several approaches exist, but bisulfite-enabled Methyl-seq currently dominates the scene.
NGS is also becoming increasingly popular for applications once dominated by microarrays. ChIP-seq’s improved data quality compared to microarrays permits greater accuracy in identifying protein-binding DNA targets. RNA-seq provides an alternative to microarrays in assessing cell transcriptomes and is well on its way to becoming the dominant mode in transcriptomics.
Although much of the benefit to date from NGS-based investigation falls in the basic research realm, a number of applied research areas are starting to show progress as well. Essentially all NGS manufacturers have intense interest in diagnostic applications, often both as supplier and participant. Collaborative programs aimed at such applications are now in progress. Several companies have focused on epigenetic assays in cancer resulting in some early commercial activity, but products have generally been slow to emerge.
Personal genomics has also been slow to develop as a business area. The field remains rather controversial, with proponents looking to its brilliant possibilities and opponents emphasizing the limited value of current offerings. However, the rapid pace of NGS basic research is likely to add significant value to personal genome sequencing in the next several years. Nearer-term NGS applications with established value include aneuploidy detection, carrier screening tests for multiple Mendelian diseases, mitochondrial DNA sequencing for a number of diseases, and others.
Next-Generation Sequencing Technologies: Applications and Markets includes observations from a survey we conducted among current and prospective NGS users regarding their practices and views on NGS adoption and applications. Tabulated results from the survey, along with clarifications and discussion, are provided. Also, although this report is focused on NGS applications, we provide some context with a brief look at what is known about the size and nature of the market for next-gen sequencing instruments and reagents. Also examined are trends within particular application areas.
Finally, we provide conclusions and prognosticate on possible future trends in the field. Included are full transcripts of interviews we conducted with researchers and managers knowledgeable in various aspects of NGS applications.
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Insight Pharma Reports (InsightPharmaReports.com) are written by experts in consulting and industry that collaborate with us to provide a series of reports that evaluate the salient issues in pharmaceutical technology, business, and therapy markets. Insight Pharma Reports are used by leading pharmaceutical, biotech, diagnostic, consulting, and financial companies to keep abreast of the latest advances in pharmaceutical R&D, their potential applications and business impacts, and their current and future position in the marketplace. Insight Pharma Reports is a division within Cambridge Healthtech Institute (CHI).