Innovation in Clinical Diagnostics
The latest report from SDi is Innovation in Clinical Diagnostic Instruments: PCR, NGS, Mass Spec and HPLC presents a thorough picture of the molecular diagnostics market – its current situation, trends, and recent market-oriented data about analytical solutions being used in this field. The report provides information on the primary technologies utilized in the molecular diagnostics market, namely nucleic acid amplification, sequencing, mass spectrometry, HPLC, in situ hybridization, and microarrays. This report is essential reading for any company active in this market.
In this article we focus of clinical applications for Next Generation Sequencing – a market we project will grow by 12% over the next five years. Our report covers market size, share and growth out to 2021 ad discusses many of the technological and competitive factors shaping this fast growing segment f the overall molecular diagnostics market.
Overview of NGS Technologies
The power of NGS technologies is migrating from the research market into the clinic at an ever-quickening pace. Researchers, clinicians and manufacturers are demonstrating remarkable innovation is applying the and the power of NGS to address a wide array of applications that include infectious disease, cancer, genetic disorders and non-invasive prenatal testing – many of which are now showing real clinical utility.
There are a variety of methods that different systems utilize for next-generation sequencing, including pyrosequencing (454 Roche), sequencing by synthesis (Illumina and QIAGEN), sequencing by ligation (SOLiD Thermo Fisher), and semiconductor sequencing (Ion Torrent Thermo Fisher).
- Pyrosequencing – Sequencing is performed by detecting the nucleotide incorporated by a DNA polymerase. It relies on light detection based on a chain reaction when pyrophosphate is released during each nucleotide incorporation.
- Sequencing by synthesis – Involves taking a single strand of the DNA to be sequenced and then synthesizing its complementary strand enzymatically.
- Sequence by ligation – This method harnesses the power of DNA ligase enzyme and its mismatch sensitivity to sequence genomes without using DNA polymerases.
- Semiconductor sequencing – In contrast to the optical detection methods applied in other techniques, here the detection is based on hydrogen ions that are generated from the polymerization of DNA.
Other methods include single-molecule real-time or SMRT sequencing (Pacific Biosciences), nanopore DNA sequencing (Oxford Nanopore Technologies), and DNA nanoball sequencing (Complete Genomics/BGI).
A Flurry of New Clinical NGS Products
One of the clearest indicators of a fast growing market is the pace at which new products are introduced. A quick scan of some of the introductions covered by our executive newsletter, Instrument Business Outlook, shows at least one major product introduction per month in 2017.
Just last month, Illumina introduced the NextSeq 550Dx, its second FDA-regulated CE-IVD marked platform for the clinical lab. It includes diagnostic and research modes. The setup for different applications are fully integrated in the system’s software. The company also provided an updated intended use for its MiSeq Dx instrument to include the use of DNA libraries generated from FFPE tissues. For the MiSeq Dx, Illumina launched the regulated MiSeqDx Reagent Kit v3 and the TruSeq Custom Amplicon Kit Dx.
BGI Genomics completed its IPO in China on the Shenzhen Stock Exchange’s Chi-Next Exchange. The offering raised $250 million, according to China Money Network. “This IPO is a historic day for BGI,” commented BGI Genomics CEO Yin Ye. “The capital raised will allow us to invest in the development of new services, top talent and lab infrastructure to benefit our global customers and to support our continued growth and innovation.” While not a product introduction, the capital raise was significant in that it will likely accelerate BGI’s plans to increasingly use its own BGISEQ-500 for its sequencing services. In October 2016, the Chinese FDA approved BGI’s BGISEQ-500 sequencer as a medical device.
Thermo Fisher Scientific announced in June the FDA premarket approval of the Oncomine Dx Target Test, calling it the first NGS-based test that simultaneously screens tumor samples for biomarkers associated with three FDA-approved therapies for non–small cell lung cancer. The Test evaluates 23 genes simultaneously. LabCorp Diagnostics and Covance Businesses, NeoGenomics Laboratories and Cancer Genetics are among the first labs to offer the Test. Developed in collaboration with Novartis and Pfizer, the test runs on Thermo Fisher’s Ion PGM Dx System.
Also in June, Illumina announced that its Extended RAS Panel will beginning shipping in the third quarter. The FDA-approved NGS kit helps clinicians identify which patients are eligible for treatment of metastatic colorectal cancer with Vectibix, and meets several medical societies’ guidelines. The kit, which was developed with Amgen and runs on Illumina’s MiSeqDx System, simultaneously interrogates 56 variants across and KRAS and NRAS genes in order to establish mutant status in a single test.
Sophia Genetics introduced in May its Whole Exome and Clinical Exome Solution, accessible through the company’s DDM analytical platform for clinical diagnostics. The offering also includes DNA sample preparation kits. The pattern-recognition technology enables a database search that identifies and retrieves matching variants regardless of the variants’ representations.
In March, Optra Health launched the iPhronesis Knowledge Automation for Clinical Genomics platform, using advanced neural language processing algorithms and deep machine learning. It is designed for rapid data curation, variant classification and clinical reporting. At around the same time, TOMA Biosciences launched in March the COMPASS Tumor Profiling System, a workflow pathway from tumor, library preparation, sequencing, data analysis, clinical annotation and reporting. It includes the TOMA OS-Seq, an oligo selective sequencing capture technology.
In a fast changing market, collaborations with competitors and customers offers the benefits of leveraging experience and resources to innovate and arrive at solutions more quickly. The clinical NGS market certainly saw its share of significant collaborations in 2017.
QIAGEN announced in October a collaboration and co-marketing agreement with CENTOGENE, which provides genetic diagnostics for rare diseases. The companies will integrate their respective bioinformatics offerings and CentoMD rare disease variant database. QIAGEN will exclusively distribute the database.
In September, Thermo Fisher Scientific signed an agreement with the Institute of Pathology Heidelberg to establish the Center of Molecular Pathology at Heidelberg University Hospital as the newest member of its Next Generation Sequencing Companion Dx Center of Excellence Program.
Also in September, PerkinElmer announced a collaboration with In-Depth Genomics (IDG) to support IDG’s Whole Genome Sequencing Diagnostic Program for neurology patients by providing sequencing, interpretation services and diagnostic report generation. The program will be offered to US physicians at no cost to the patient. The plan is to sequence one hundred thousand genomes of patients who suffer from rare and undiagnosed conditions.
In August, NanoString Technologies, a provider of life science tools for translational research and molecular diagnostics, has entered into a strategic collaboration agreement with Lam Research to develop its Hyb & Seq single-molecule sequencing platform for clinical applications. Publicly held Lam Research is a supplier of wafer fabrication equipment and services to the semiconductor industry. NanoString will provide its sequencing chemistry and Lam will supply its nanoscale manufacturing expertise.
In July, LabCorp and Cancer Genetics joined Thermo Fisher Scientific’s Next Generation Sequencing Companion Dx Center of Excellence Program. Each partner will participate in oncology-focused clinical trials in collaboration with pharmaceutical companies and Thermo Fisher. The companies may also qualify for early access to Thermo Fisher’s pipeline of novel platforms and assays to assist with development of Oncomine-branded solutions.
Agilent Technologies announced in June an agreement to expand its relationship with Agendia to include the development of an RNA-Seq kit version of Agendia’s MammaPrint and BluePrint test. MammaPrint and BluePrint tests assess the risk of disease recurrence in women with early-stage breast cancer.
In June, Bristol-Myers Squibb and QIAGEN agreed to explore the use of NGS to develop gene expression profiles as a predictive or prognostic tool with Bristol-Myers Squibb’s immune-oncology therapies. The companies, which have worked together since 2009, plan to enter into other agreements to develop diagnostic products.
Thermo Fisher Scientific and Agios Pharmaceuticals in May entered into an agreement to develop and commercialize an NGS oncology companion diagnostic for ivosidenib, which is currently in a Phase 3 trial for treatment of patients with advanced IDH1m positive cholangiocarcinoma. Upon validation, Thermo Fisher will submit a supplemental premarket approval application to expand clinical claims for its multi-therapy NGS test that is currently awaiting FDA approval. Thermo Fisher retains the right to commercialize the test globally and will lead all regulatory filings.
Market Forecasts From SDI
Sequencing is by far the fastest growing segment of the overall molecular diagnostics market and our analysts are committed to staying on top of the latest technological, competitive and regulatory developments in this area that is critical to so many of our clients. This article highlighted just a few of the events that helped inform our market projections in our report Innovation in Clinical Diagnostic Instruments: PCR, NGS, Mass Spec and HPLC .
Strategic Directions International (SDi) is the leading international management-consulting firm in the highly specialized field of analytical and life science instruments. Its client list includes virtually every major analytical instrumentation company in the United States, Europe, and Japan. In September 2014, SDi was acquired by and is now a division of BioInformatics.
The primary objective of this report is to provide a picture of the analytical instrumentation market for molecular diagnostics and related clinical research applications, give insight into projected market trends, and present an analysis of the strategic and competitive landscape for the technologies covered. Note that this report provides data and analysis of products designed specifically for molecular diagnostics. Detailed definitions and explanations of the included technologies are presented in the Technology Overview section.
The market for each technology is described in terms of various product-oriented segments. Market demand estimates for the techniques are presented for their total associated annual revenues from initial system sales, aftermarket purchases, and service.
All market estimates are at end-user prices and therefore many instrument system and aftermarket sales include distributor or agent commissions or mark-ups. In the market share estimates, distributors are given credit for their commission or mark-up, but the original vendor is apportioned the remainder of the sale price. Thus, market share estimates are not necessarily indicative of direct end-user funds, but essentially represent the annual sales of a given supplier through various channels. Since some smaller manufacturers provide products and components on an OEM basis to system manufacturers, there could be some double counting. Although this complicates the picture, the overall effect is not significant.
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