The Cost of Sequencing a Single Genome Has Decreased to USD 1,000, Using Currently Available Technologies
Overview
Advances in DNA sequencing technologies have led to significant developments in a variety of healthcare-focused research fields, such as precision medicine and diagnostics. Particularly, the impact of next generation sequencing (NGS) methods, enabling whole genome and whole exome sequencing, has been the most profound. This high throughput, parallel genome sequencing technology has greatly reduced the overall cost and time investment. In fact, compared to the Human Genome Project (~USD 3 billion), the cost of sequencing a single genome has decreased to USD 1,000, using currently available technologies. Owing to the ongoing innovation in this field, stakeholders believe that the aforementioned cost may get further reduced to USD 100 over the next decade.
This decrease in genome sequencing costs has led to a marked increase in the number of genomes being sequenced around the world. In fact, several large scale efforts, such as UK Biobank and GenomeAsia 100k, have been initiated in order to collect genomic data for use in medical research. Big pharma players, including AstraZeneca, GSK, Pfizer, Merck and Roche, are actively on the lookout for collaborating with such data repositories in order to access the aforementioned information.
Despite the progress made in this field of research, there are several existing challenges related to the NGS process affiliated workflow and data analysis. The lack of versatile in silico tools is considered to be the major rate-limiting step in NGS data analysis and interpretations.
At present, industry stakeholders are actively collaborating in order to integrate their respective resources for mining these large and complex datasets to generate clinically relevant, actionable insights. Additionally, there is a need for better genomic library preparation protocols, which required less starting material, and are capable of generating libraries with more precisely estimated insert sizes and longer reads at reduced error rates. More efficient genome assembly algorithms and better processors (increased computational power) for genomic data processing are also likely to get developed. We are led to believe that, once the aforementioned challenges are addressed, this segment of the biopharmaceutical industry will witness significant growth.
Scope of the Report
The ‘Next Generation Sequencing (NGS) Market, 2020-2030: Service Providers (Whole Genome, Whole Exome and Targeted Sequencing) and Technology Platforms’ report features an extensive study of the current landscape and the future opportunities associated with service/technologies providers. Amongst other elements, the report features:
- An overview of the genome sequencing service providers landscape, featuring information on year of establishment, company size, geographical location and types of services offered (sanger sequencing, genotyping, whole genome sequencing, whole exome sequencing targeted sequencing and bioinformatics). Further, it provides details on the cost of services, sequencing systems used, average turn-around time and sequencing coverage, for certain types of sequencing-related services (whole genome, whole exome and targeted sequencing) offered by contract service providers.
- An overview of genome sequencing technologies landscape, featuring information on type of applications, run time, maximum reads per run, maximum sequencing output, maximum read length, type of sequencing technique, quality score and cost. It also provides information on the technology providers involved in this domain, including information on year of establishment, company size and geographical location.
- An informed competitiveness analysis of the genome sequencing technologies captured in our database, taking into consideration relevant parameters, such as supplier power (based on company size of technology provider) and other important technology-related specifications, such as types of applications, maximum sequencing output, maximum reads per run, maximum read length, quality score and cost of sequencer.
- An in-depth analysis of intellectual property related to this field of research, in order to generate an opinion on how the industry has evolved from the R&D perspective. The analysis takes into consideration genome sequencing-related patents that have been filed/granted since 2015, highlighting publication year, issuing authority/patent offices involved, CPC symbols, emerging focus areas, leading players, patent characteristics and geography.
- An analysis of completed, ongoing and planned clinical studies related to genome sequencing, featuring details on registration year, type of sponsors/collaborators, current status of trials, type of study design, target therapeutic area, type of application, regional distribution of clinical trials and enrolled patient population.
- An analysis of the various genome sequencing-focused initiatives of the ten big pharma players (shortlisted based on extent of activity in genome sequencing domain), highlighting the key focus areas of such companies along with information on funding, collaboration and acquisition activity.
- A case study on the various national and international, government sponsored initiatives related to genome sequencing, analyzed on the basis of year of initiation, type of investors, type of participant organization, research objectives, geographical distribution, region-specific data access policies and key focus areas of research.
One of the key objectives of the report was to understand the primary growth drivers and estimate the future opportunity within the genome sequencing services and technologies market. Based on several parameters, such as number of genomes sequenced annually, average cost of sequencing, revenues generated by major players and expected annual growth rate, we have provided an informed estimate of the likely evolution of the market, for the period 2020-2030.
The chapter also presents a detailed segmentation of the aforementioned opportunity across [A] key application areas (diagnostics, drug discovery, precision medicine and others), [B] end-users (hospitals and clinics, academics and research institutes, pharmaceuticals companies and others), [C] types of technologies (sequencing by synthesis, ion semiconductor, single-molecule real-time sequencing, nanopore and others), [D] types of services (whole genome sequencing, whole exome sequencing and targeted sequencing) and [E] key geographical regions (North America, Asia-Pacific, Europe, and rest of the world).
In order to account for future uncertainties and to add robustness to our model, we have provided three market forecast scenarios, namely conservative, base and optimistic scenarios, representing different tracks of the industry’s growth.
The opinions and insights presented in this study were influenced by discussions conducted with multiple stakeholders in this domain. In addition, the report features detailed transcripts of interviews held with the following individuals (in alphabetical order of company names):
- Michael Powell (Chief Scientific Officer, DiaCarta)
- Mike Klein (Chief Executive Officer, Genomenon)
All actual figures have been sourced and analyzed from publicly available information forums. Financial figures mentioned in this report are in USD, unless otherwise specified.
Chapter Outlines
Chapter 2 is an executive summary of the insights captured in our research. It offers a high-level view on the likely evolution of the genome sequencing services and technology providers market in the mid to long term.
Chapter 3 provides a general overview of the concept of genome sequencing with information on its process workflow, types including whole genome, whole exome and targeted sequencing, epigenetics, metagenomics and RNA sequencing and a wide array of uses in clinical research. It further highlights the history and evolution of genome sequencing with details on first, second and third generation NGS platforms, and a brief outline of various applications of genome sequencing including cancer and biomarker research, precision medicine, diagnostics and forensics research. Further, it includes a discussion on the various limitations/constraints and future perspectives of this evolving segment of pharmaceutical industry.
Chapter 4 provides an overview of genome sequencing service providers landscape, featuring information on year of establishment, company size, geographical location and types of services offered (sanger sequencing, genotyping, whole genome sequencing, whole exome sequencing targeted sequencing and bioinformatics). Further, it provides details on the cost of services, sequencing systems used, average turn-around time and sequencing coverage, for certain types of sequencing-related services (whole genome, whole exome and targeted sequencing) offered by contract service providers.
Chapter 5 provides an overview of genome sequencing technologies landscape, featuring information on the type of applications, run time, maximum reads per run, maximum sequencing output, maximum read length, type of sequencing technique, quality score and cost. It also provides information on the technology providers involved in this domain, including information on year of establishment, company size and geographical location.
Chapter 6 provides an informed competitiveness analysis of the genome sequencing technologies captured in our database, taking into consideration relevant parameters, such as supplier power (based on company size of technology provider) and other important technology-related specifications, such as types of applications, maximum sequencing output, maximum reads per run, maximum read length, quality score and cost of sequencer.
Chapter 7 includes brief profiles of prominent service providers engaged in this domain. Each profile provides a brief overview of the company, its financial information (if available), a detailed description of services offered, recent developments and an informed future outlook.
Chapter 8 includes brief profiles of prominent technology developers engaged in this domain, featuring an overview of the company, its financial information (if available), a detailed description of its proprietary technology platform(s), recent developments and an informed future outlook.
Chapter 9 provides an in-depth patent analysis to provide an overview on how the industry has evolved from the R&D perspective. For this analysis, we looked at the patents related to genome sequencing that have been published since 2015. The analysis also highlights key information associated with these patents, including publication year, issuing authority/patent offices involved, CPC symbols, emerging focus areas, leading players, patent characteristics and geography.
Chapter 10 provides an analysis of completed, ongoing and planned clinical studies related to genome sequencing. The trials were analyzed on the basis of various relevant parameters, such as on registration year, type of sponsors/collaborators, current status of trials, type of study design, target therapeutic area, type of application, regional distribution of clinical trials and enrolled patient population.
Chapter 11 presents an analysis of the various genome sequencing-focused initiatives of ten big pharma players (out of top 20 established pharmaceutical players), highlighting the key focus areas of such companies along with information on funding, collaboration and acquisition activity.
Chapter 12 presents a case study on various national and international government sponsored initiatives related to genome sequencing, analyzed on the basis of year of initiation, type of investors, type of participant organization, research objectives, geographical distribution, region-specific data access policies and key focus areas of research.
Chapter 13 presents a detailed market forecast, highlighting the future potential of the genome sequencing services and technology market till the year 2030. The chapter features the likely distribution of the opportunity across [A] application areas (diagnostics, drug discovery, precision medicine and others), [B] end-users (hospitals and clinics, academics and research institutes, pharmaceuticals companies and others), [C] types of technologies (sequencing by synthesis, ion semiconductor, single-molecule real-time sequencing, nanopore and others), [D] types of services (whole genome sequencing, whole exome sequencing and targeted sequencing) and [E] key geographical regions (North America, Asia-Pacific, Europe, and rest of the world).
Chapter 14 summarizes the entire report. It presents a list of key takeaways and offers our independent opinion on the current market scenario. Further, it summarizes the various evolutionary trends that are likely to influence the future of this market.
Chapter 15 is an appendix, which provides tabulated data and numbers for all the figures included in the report.
Chapter 16 is an appendix, which contains the list of companies and organizations mentioned in the report.
Table of Contents
Companies Mentioned
- 1st base
- 23andMe
- AbbVie
- AbCellera
- Active Motif
- Activiomics
- Adaltis
- Admera Health
- Agiomix
- AgriGenome Labs
- AKESOgen
- Almac Group
- American Association for Cancer Research
- Amgen
- Annoroad Gene Technology
- ANTISEL
- Applied Biological Materials
- Arizona Genomics Institute
- Arizona Technology Enterprises
- Arthritis Research UK
- ARUP Laboratories
- Asper Biogene
- AstraZeneca
- Asuragen
- Auragen
- Australian Genome Research Facility
- BaseClear
- Bayer
- BGI
- Bio Basic
- BioAnalytical Services Laboratory (University of Maryland)
- BIOFIDAL
- Bionano Genomics
- Biosearch Technologies
- Biotechnology Center (University of Wisconsin)
- Boehringer Ingelheim
- Bristol-Myers Squibb
- Broad Institute
- C-Camp (Next Generation Genomics facility)
- CD Genomics
- CeGaT
- Celsius Therapeutics
- CEN4GEN
- Center for Applied Genomics (Children's Hospital of Philadelphia)
- Center for biomedical research Support (University of Texas)
- Centogene
- Centre for Genome Biology (University of Bologna)
- Centre for Genomic Research (University of Liverpool)
- Chromous
- Cold Spring Harbor Laboratory Next Generation Genomics Core
- Columbia Genome Center
- Columbia University
- Complete Genomics
- Computomics
- Contextual Genomics
- CosmosID
- Daiichi Sankyo
- Dante Labs
- DBS Genomics (Durham University)
- DC3 Therapeutics
- De Novo Genomics
- deCODE genetics
- DiaCarta
- Diagnomics
- Diversigen
- DNA Genotek
- DNA Link
- DNA Sequencing & Genotyping Center Delaware Biotechnology Institute
- DNA Sequencing and Gene Analysis Center (University of Washington)
- DNA Sequencing Center (Brigham Young University)
- DNAnexus
- DNAVision
- Dow Agrosciences
- Earlham Institute
- Edinburgh Genomics
- Epigenomics Core
- Eurofins Genomics
- Fasteris
- Ferring Pharmaceuticals
- Firalis
- Five Prime Therapeutics
- Foundation Medicine
- Frasergen Bioinformatics
- Fulgent Genetics
- Full Genomes
- Functional Genomics Center Zurich (University of Zürich)
- GenapSys
- Gencove
- Gene by Gene
- Genentech
- GenePlanet
- GeneTech
- GENEWIZ
- Genia Technologies
- Genialis
- Genome
- Genome Quebec Innovation Centre
- Genome Technology Access Center (University of Washington)
- GenomeFan
- GenomeScan
- GenomeStream
- Genomics and Sequencing Center (University of Rhode Island)
- Genomics Evidence Neoplasia Information Exchange
- Genomics Medicine Ireland
- Genomics Personalized Health
- Genomics Sequencing Service Center (Stanford Medicine)
- Genomix4Life
- Genoptix
- Genosity
- Genotypic Technology
- Gilead Sciences
- GlaxoSmithKline
- GRAIL
- Halozyme Therapeutics
- Harvard University
- Health Wadsworth Center
- Healthcare and Bioscience iNet
- HistoGenetics
- Horizon Discovery
- HudsonAlpha Genome Sequencing Center
- Human Genome Sciences
- Human Longevity
- Icahn Institute for Data Science and Genomic Technology
- Illumina
- Inotrem
- Institute for Food Safety and Health (Illinois Institute of Technology)
- Integrative Genomics Core (City of Hope)
- International Wheat Genome Sequencing Consortium
- Jan-Willem de Gier (Stockholm University)
- Johns Hopkins University
- Johnson and Johnson
- Jouvene
- Kapa Biosystems
- Kazusa DNA Research Institute
- KCCG Sequencing Laboratory (Garvan Institute of Medical Research)
- LC Sciences
- Loop Genomics
- Loxo Oncology
- Lucigen
- Macrogen
- Maryland Genomics
- Massachusetts General Hospital
- Massachusetts Institute of Technology
- Massey Genome Service (Massey University)
- Max Planck-Genome-centre Cologne
- McDonnell Genome Institute (Washington University)
- McGill University
- MedGenome
- MedImmune (a subsidiary of AstraZeneca)
- Medivir
- Merck
- MGI Tech
- Microba
- Microgenomics
- Microsynth
- MNG Laboratories (Medical Neurogenetics)
- MOgene
- MolDiag Solutions
- Molecular Biology and Genomics Core (Washington State University)
- MongoDB
- MRC Human Genetics Unit (University of Edinburgh)
- myGenomics
- Myriad Genetics
- Nabsys
- National Genomics Infrastructure (University of Uppsala)
- National Instrumentation Center for Environmental Management
- Nebula Genomics
- New York Genome Center
- Next Generation Sequencing Core (Oklahoma Medical Research Foundation)
- Next Generation Sequencing Facility (University of Leeds)
- Novartis
- Novogene
- Nucleics
- Nucleome
- Ocean Genome Legacy
- Okairos and Conatus
- Omega Bioservices
- Oncimmune
- OpGen
- Otogenetics
- Oxford Genomics Centre
- Oxford Nanopore Technologies
- Oxford University Consortium
- Pacific Biosciences
- Partners HealthCare Personalized Medicine
- PerkinElmer Genomics
- Pfizer
- Phalanx Biotech
- Phoenix Molecular Designs
- Pierre Fabre
- Protein and Nucleic Acid Facility
- Psomagen
- Q2 Solutions
- QIAGEN
- Quick Biology
- Rady Children's Institute for Genomic Medicine
- Ramaciotti Centre for Genomics (UNSW Sydney)
- RAPiD Genomics
- REPROCELL
- Roche
- RTLGenomics
- San Diego Supercomputer Center
- Sanofi
- Scripps Translational Science Institute
- Second Genome
- SeqLL
- SeqMatic
- Sequencing Center
- Shanghai OE Biotech
- Source BioScience
- SRM
- Stanford University
- StarSEQ
- Stratos Genomics
- Synbio Technologies
- Technology Center for Genomics & Bioinformatics (UCLA)
- Texas A&M AgriLife
- Theragen Etex Bio
- Thermo Fisher Scientific
- Toldot Genetics
- UCB
- UCLA Clinical Genomics Center
- UK's Medical Research Foundation
- United Therapeutics
- University of California
- University of Leicester
- University of London
- University of Minnesota Genomics Center
- University of Nottingham
- University of Utah Health
- Veritas
- Waksman Institute of Microbiology (Rutgers University)
- Wellcome Sanger Institute
- WuXi NextCODE
- Xcelris Labs
- Yaazh Xenomics
- Yale Center for Genome Analysis (Yale School of Medicine)
- Yikon Genomics
Methodology
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