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Human Gene Sequencing Markets, Strategies & Trends. Volume & Price Forecasts by Inherited Disease, Newborn Screening, NIPT, Oncology/Tumor, Pharmacogenomic, and Direct To Consumer, by Country. With Executive and Consultant Guides. 2019 to 2023

Human Gene Sequencing Markets, Strategies & Trends. Volume & Price Forecasts by Inherited Disease, Newborn Screening, NIPT, Oncology/Tumor, Pharmacogenomic, and Direct To Consumer, by Country. With Executive and Consultant Guides. 2019 to 2023

Will all newborns receive genetic testing at birth? Why has Direct to Consumer Testing taken a big jump? What’s holding the industry back? Where are the over 800 locations that have high throughput sequencing devices?

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The plummeting costs for Genome Sequencing is creating a gold rush. New consumers, new technologies, new market niches. It is reminiscent of the birth of the internet industry; a wide range of well funded players are racing for market share on a global stage. This report forecasts the market size out to 2023 by volume and price. The report includes detailed breakouts for 14 countries and 5 regions.

Tumor Cell Sequencing? Direct to Consumer? Gene Expression? Find out about the technology in readily understood terms that explain the jargon. What are the issues? Find the opportunities, and the pitfalls. Understand growth expectations and the ultimate market forecasts for the next five years.

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1. Introduction and Market Definition
1.1 Gene Sequencing Definition In This Report
1.1.1 Gene Sequencing
1.1.2 Inherited Disease
1.1.3 Newborn Screening
1.1.4 Non Invasise Prenatal Testing
1.1.5 Oncology/Tumor
1.1.6 Pharmacogenomic
1.1.7 Direct to Consumer
1.2 The Genomics Revolution
1.3 Market Definition
1.3.1 Volumes
1.3.2 Prices
1.3.3 Revenue Market Size
1.4 U.S. Medical Market and laboratory Testing - Perspective
1.4.1 U.S. Medicare Expenditures for laboratory testing
1.5 Genetic Testing vs. Gene Sequencing
1.5.1 Cost and Pricing Practice
1A Global Listing of Sequencer Installed Base – Location & Contacts
1A.1 Notes to Installed Base Listing
2. Market Overview
2.1 Market Participants Play Different Roles
2.1.1 Instrument Manufacturer
2.1.2 Independent lab specialized/esoteric
2.1.3 Independent lab national/regional
2.1.4 Independent lab analytical
2.1.5 Public National/regional lab
2.1.6 Hospital lab
2.1.7 Physician lab
2.1.8 DTC Lab
2.1.9 Sequencing Labs
2.1.10 Audit body
2.2 Human Gene Sequencing –Markets, Examples and Discussion
2.2.1 Inherited Disease – Not what it used to be
2.2.1.1 Clinical and Research Lines Blur
2.2.1.2 Genetic Counselling – Not so simple anymore
2.2.1.3 The Genetic Blizzard – Issues of Access and Payment
2.2.2 Newborn Screening – The Standard of Care
2.2.2.1 Newborn Screening – Do Parents Want to Know?
2.2.3 NIPT – We’ve Only Just Begun
2.2.3.1 NIPT, IVF and the Fertility Practice – PGS, PGD, CCS
2.2.3.2 NIPT in the Future – Beyond Inherited Disease
2.2.4 Oncology – Understanding Two Worlds
2.2.4.1 The Tumor – A Sequence of Sequencing
2.2.4.2 The Tumor - Biopsy and Liquid Biopsy
2.2.4.3 The Human Genome – Predisposition and Prognosis
2.2.5 Pharmacogenomics
2.2.5.1 Sequencing Not the Only Player
2.2.5.2 New Roles for Old Drugs – A Research Bonanza?
2.2.6 Direct To Consumer – More Than Meets the Eye
2.2.6.1 DTC – How Many Segments?
2.3 Industry Structure
2.3.1 Hospital’s Testing Share
2.3.2 The Rise of the Sequencing Lab
2.3.3 Sequencing as a Commodity
2.3.4 Informatics
2.3.4 Instrument Manufacturer Role
2.3.4 Healthcare Industry Impacts – Still Struggling
2.3.4.1 Can the Healthcare Industry Adapt?
2.3.4.2 Genetic Counselling as an Industry
2.3.4.3 Sequencing Adoption and Cannibalization
2.4 Profiles of Key Companies
2.4.1 Roche Molecular Diagnostics
2.4.2 Illumina
2.4.3 Grail
2.4.4 Complete Genomics - BGI
2.4.5 Qiagen
2.4.6 GE Global Research
2.4.7 BGI Genomics Co. Ltd.
2.4.8 Oxford Nanopore Technologies
2.4.9 Genomic Health
2.4.10 Pacific Biosciences
2.4.11 Siemens Healthcare
2.4.12 23 and Me
2.4.13 Ancestry.com
2.4.14 Bio-Rad
2.4.15 Thermo Fisher
2.4.16 Fabric Genomics
2.4.17 Centogene
2.4.18 Gene by Gene Ltd
2.4.19 Veritas Genetics
2.4.20 Dante Labs
2.4.21 Guardiome
2.4.22 Sure Genomics
2.4.23 Novogene
2.4.24 Helix
2.4.25 Genomics Personalized Health (GPH)
2.4.26 Sequencing.com
2.4.27 Omega Bioservices
2.4.28 ORIG3N
2.4.29 Human Longevity, Inc.
2.4.30 Invitae
2.4.31 MNG Labs
2.4.32 Regeneron
2.4.33 Medgenome
2.4.34 10X Genomics
2.4.35 Genomics England
2.4.36 Stratos Genomics
2.4.37 Personalis
2.4.38 Perkin Elmer
3. Market Trends
3.1 Factors Driving Growth
3.1.1 New Diagnoses
3.1.2 Wellness and Prevention.
3.1.3 Fertility Technology
3.1.4 Cancer – Screening, Management and Monitoring
3.2 Factors Limiting Growth
3.2.1 Increased Competition Lowers Price
3.2.2 Lower Costs.
3.2.3 Healthcare Cost Concerns Curtail Growth.
3.2.4 Wellness has a downside
3.3 Sequencing Instrumentation
3.3.1 Instrumentation Tenacity.
3.3.2 Declining Cost of Instruments Changes Industry Structure.
3.3.3 LISTING of CURRENT INSTRUMENT SPECIFICATIONS.
3.3.4 Long Reads – Further Segmentation.
3.3.5 Linked Reads.
3.3.6 New Sequencing Technologies
4. Human Gene Sequencing Recent Developments
4.1 Recent Developments – Importance and How to Use This Section
4.1.1 Importance of These Developments
4.1.2 How to Use This Section
4.2 llumina to Acquire Pacific Biosciences for $1.2 Billion
4.3 New DNA tests look for 190 diseases in newborn’s genetic code
4.4 Cordlife, PlumCare Partner to Offer Genetic Testing Services in Asia
4.5 New genetic risk score could help guide screening decisions for prostate cancer
4.6 Tele-genetics pilot makes genetic counseling accessible
4.7 Digital Genetic Assistant OptraGURU™ Launches Today From Optra Health
4.8 PacBridge Capital Partners Invests C$12M in Contextual Genomics
4.9 MDxHealth 2017 Revenues Rise 35 Percent on Prostate Cancer Tests
4.10 From DNA To Disease: A Diagnosis Made In Under A Day
4.11 A New Tool Uses CRISPR to Uncover Genetic Mutations
4.12 Sophia Genetics Gains CE-IVD Mark for Leukemia Assay
4.13 Human Longevity Launches Whole Genome Product, MassMutual Partnerships
4.14 $1500 to sequence newborns in China
4.15 Newborns to Get Whole Genome Sequencing
4.16 Eurofins Acquiring PerkinElmer’s NTD Laboratory Services Business
4.17 Konica Minolta to buy Ambry Genetics, deal worth up to $1 billion
4.18 AstraZeneca taps gene pioneer Venter for huge drug-hunting sweep
4.19 The Cooper Companies’ Women’s Health Care Unit Acquires Genesis Genetics
4.20 Research Validates Preimplantation Genetic Diagnosis for Aneuploidy (PGD-A)
4.21 GHO Capital Announces Acquisition of DNA Diagnostics Center
4.22 Veritas Genetics Buys Curoverse
4.23 Toolbox Genomics Launches Personalized Wellness App in Sequencing.com's Revolutionary
App Market
4.24 IBM Watson impresses in WGS brain tumour analysis
4.25 OneOme, Genome.One Partner to Offer Genetic Risk, PGx Service in Australia
4.26CombiMatrix In Merger Agreement with Invitae to be Acquired for $33 Million in Invitae
Common Stock
4.27 Nine Centres use Oxford Nanopore MinION to Sequence Human Genome
4.28 Regeneron Partners With AbbVie, Alnylam, AstraZeneca, Biogen, Pfizer to Sequence UK
Biobank Samples
4.29 MedGenome Expands Its NGS Capabilities and Forays Into Single-Cell Sequencing
4.30 Whole Genome Sequence for Just $200?
4.31 PGDx and PathGroup Enter Co-Development Agreement
4.32 Position Statement Spells Out Fetal Diagnostic Sequencing Recommendations
4.33 Stratos Genomics Raises Funds to Ready for Commercialization
4.34 Newborn genomic sequencing detects unanticipated disease risk factors
4.35 Cancer Genetics, NovellusDx Sign Merger Agreement
4.36 NeoGenomics to Acquire Genoptix for Cash, Stock
4.37 Scientists discover new nanoparticle, dubbed exomeres, released by tumors
4.38 10x Genomics Acquires Spatial Transcriptomics
5. Global Market
5.1 United States of America
5.1.1 Inherited Disease – Volumes, Prices, Revenues
5.1.2 Newborn Screening – Volumes, Prices, Revenues
5.1.3 NIPT – Volumes, Prices, Revenues
5.1.4 Direct to Consumer Testing – Volumes, Prices, Revenues
5.1.5 Tumor – Volumes, Prices, Revenues
5.1.6 Pharmacogenomic – Volumes, Prices, Revenues
5.2 Canada
5.2.1 Inherited Disease – Volumes, Prices, Revenues
5.2.2 Newborn Screening – Volumes, Prices, Revenues
5.2.3 NIPT – Volumes, Prices, Revenues
5.2.4 Direct to Consumer Testing – Volumes, Prices, Revenues
5.2.5 Tumor – Volumes, Prices, Revenues
5.2.6 Pharmacogenomic – Volumes, Prices, Revenues
6. Country Markets – Europe
6.1 Germany
6.1.1 Inherited Disease – Volumes, Prices, Revenues
6.1.2 Newborn Screening – Volumes, Prices, Revenues
6.1.3 NIPT – Volumes, Prices, Revenues
6.1.4 Direct to Consumer Testing – Volumes, Prices, Revenues
6.1.5 Tumor – Volumes, Prices, Revenues
6.1.6 Pharmacogenomic – Volumes, Prices, Revenues
6.2 France
6.2.1 Inherited Disease – Volumes, Prices, Revenues
6.2.2 Newborn Screening – Volumes, Prices, Revenues
6.2.3 NIPT – Volumes, Prices, Revenues
6.2.4 Direct to Consumer Testing – Volumes, Prices, Revenues
6.2.5 Tumor – Volumes, Prices, Revenues
6.2.6 Pharmacogenomic – Volumes, Prices, Revenues
6.3 United Kingdom
6.3.1 Inherited Disease – Volumes, Prices, Revenues
6.3.2 Newborn Screening – Volumes, Prices, Revenues
6.3.3 NIPT – Volumes, Prices, Revenues
6.3.4 Direct to Consumer Testing – Volumes, Prices, Revenues
6.3.5 Tumor– Volumes, Prices, Revenues
6.3.6 Pharmacogenomic – Volumes, Prices, Revenues
6.4 Remainder of Europe and Former Soviet Union
6.4.1 Inherited Disease – Volumes, Prices, Revenues
6.4.2 Newborn Screening – Volumes, Prices, Revenues
6.4.3 NIPT – Volumes, Prices, Revenues
6.4.4 Direct to Consumer Testing – Volumes, Prices, Revenues
6.4.5 Tumor – Volumes, Prices, Revenues
6.4.6 Pharmacogenomic – Volumes, Prices, Revenues
7. Country Markets – Asia Pacific
7.1 Japan
7.1.1 Inherited Disease – Volumes, Prices, Revenues
7.1.2 Newborn Screening – Volumes, Prices, Revenues
7.1.3 NIPT – Volumes, Prices, Revenues
7.1.4 Direct to Consumer Testing – Volumes, Prices, Revenues
7.1.5 Tumor – Volumes, Prices, Revenues
7.1.6 Pharmacogenomic – Volumes, Prices, Revenues
7.2 China
7.2.1 Inherited Disease – Volumes, Prices, Revenues
7.2.2 Newborn Screening – Volumes, Prices, Revenues
7.2.3 NIPT – Volumes, Prices, Revenues
7.2.4 Direct to Consumer Testing – Volumes, Prices, Revenues
7.2.5 Tumor – Volumes, Prices, Revenues
7.2.6 Pharmacogenomic – Volumes, Prices, Revenues
7.3 South Korea
7.3.1 Inherited Disease – Volumes, Prices, Revenues
7.3.2 Newborn Screening – Volumes, Prices, Revenues
7.3.3 NIPT – Volumes, Prices, Revenues
7.3.4 Direct to Consumer Testing – Volumes, Prices, Revenues
7.3.5 Tumor – Volumes, Prices, Revenues
7.3.6 Pharmacogenomic – Volumes, Prices, Revenues
7.4 Rest of Asia Pacific
7.4.1 Inherited Disease – Volumes, Prices, Revenues
7.4.2 Newborn Screening – Volumes, Prices, Revenues
7.4.3 NIPT– Volumes, Prices, Revenues
7.4.4 Direct to Consumer Testing – Volumes, Prices, Revenues
7.4.5 Tumor – Volumes, Prices, Revenues
7.4.6 Pharmacogenomic – Volumes, Prices, Revenues
8. Country Markets – Latin America, Africa & The Middle East
8.1 Brazil
8.1.1 Inherited Disease – Volumes, Prices, Revenues
8.1.2 Newborn Screening – Volumes, Prices, Revenues
8.1.3 NIPT– Volumes, Prices, Revenues
8.1.4 Direct to Consumer Testing – Volumes, Prices, Revenues
8.1.5 Tumor – Volumes, Prices, Revenues
8.1.6 Pharmacogenomic – Volumes, Prices, Revenues
8.2 Mexico
8.2.1 Inherited Disease – Volumes, Prices, Revenues
8.2.2 Newborn Screening – Volumes, Prices, Revenues
8.2.3 NIPT – Volumes, Prices, Revenues
8.2.4 Direct to Consumer Testing – Volumes, Prices, Revenues
8.2.5 Tumor – Volumes, Prices, Revenues
8.2.6 Pharmacogenomic – Volumes, Prices, Revenues
8.3 Rest of Latin America
8.3.1 Inherited Disease – Volumes, Prices, Revenues
8.3.2 Newborn Screening – Volumes, Prices, Revenues
8.3.3 NIPT – Volumes, Prices, Revenues
8.3.4 Direct to Consumer Testing – Volumes, Prices, Revenues
8.3.5 Tumor – Volumes, Prices, Revenues
8.3.6 Pharmacogenomic – Volumes, Prices, Revenues
8.4 Africa & The Middle East
8.4.1 Inherited Disease – Volumes, Prices, Revenues
8.4.2 Newborn Screening – Volumes, Prices, Revenues
8.4.3 NIPT– Volumes, Prices, Revenues
8.4.4 Direct to Consumer Testing – Volumes, Prices, Revenues
8.4.5 Tumor – Volumes, Prices, Revenues
8.4.6 Pharmacogenomic – Volumes, Prices, Revenues
9. Global Market Summary
9.1 Global Market
9.1.1 Inherited Disease – Volumes, Prices, Revenues
9.1.2 Newborn Screening – Volumes, Prices, Revenues
9.1.3 NIPT – Volumes, Prices, Revenues
9.1.4 Direct to Consumer Testing – Volumes, Prices, Revenues
9.1.5 Tumor – Volumes, Prices, Revenues
9.1.6 Pharmacogenomic – Volumes, Prices, Revenues
10. Vision of the Future of Human Gene Sequencing
Appendices
I. United States Medicare System: January 2018 laboratory Fees Schedule – National Limit and
Midpoint
II Methodology
II.1 Authors
II.2 Sources
Table of Tables
Table 1 The Base Pairs
Table 2 Most Common Traditional Genetic Disorders
Table 3 Medicare Clinical Lab Expenditures Actual & Forecast 2004 to 2020 ($Billion)
Table 4 List of GLOBAL SEQUENCING LOCATIONS
Table 5 Market Players by Type
Table 6 The Different Markets for Human Gene Sequencing
Table 7 DTC Sub Segments
Table 8 The Factors Driving Growth
Table 9 Factors Limiting Growth
Table 10 - Listing of Current Instrument Specifications
Table 11 Six New Sequencing Technologies
Table 12 USA Inherited Disease - Volume Price and Revenue Forecast
Table 13 USA Newborn Screening - Volume Price and Revenue Forecast
Table 14 USA NIPT - Volume Price and Revenue Forecast
Table 15 USA Direct to Consumer Testing - Volume Price and Revenue Forecast
Table 16 USA Tumor - Volume Price and Revenue Forecast
Table 17 USA Pharmacogenomic - Volume Price and Revenue Forecast
Table 18 Canada Inherited Disease - Volume Price and Revenue Forecast
Table 19 Canada Newborn Screening - Volume Price and Revenue Forecast
Table 20 Canada NIPT - Volume Price and Revenue Forecast
Table 21 Canada Direct to Consumer Testing - Volume Price and Revenue Forecast
Table 22 Canada Tumor - Volume Price and Revenue Forecast
Table 23 Canada Pharmacogenomic - Volume Price and Revenue Forecast
Table 24 Germany Inherited Disease - Volume Price and Revenue Forecast
Table 25 Germany Newborn Screening - Volume Price and Revenue Forecast
Table 26 Germany NIPT - Volume Price and Revenue Forecast
Table 27 Germany Direct to Consumer Testing - Volume Price and Revenue Forecast
Table 28 Germany Tumor - Volume Price and Revenue Forecast
Table 29 Germany Pharmacogenomic - Volume Price and Revenue Forecast
Table 30 France Inherited Disease - Volume Price and Revenue Forecast
Table 31 France Newborn Screening - Volume Price and Revenue Forecast
Table 32 France NIPT - Volume Price and Revenue Forecast
Table 33 France Direct to Consumer Testing - Volume Price and Revenue Forecast
Table 34 France Tumor - Volume Price and Revenue Forecast
Table 35 France Pharmacogenomic - Volume Price and Revenue Forecast
Table 36 U.K. Inherited Disease - Volume Price and Revenue Forecast
Table 37 U.K. Newborn Screening - Volume Price and Revenue Forecast
Table 38 U.K. NIPT - Volume Price and Revenue Forecast
Table 39 U.K. Direct to Consumer Testing - Volume Price and Revenue Forecast
Table 40 U.K. Tumor - Volume Price and Revenue Forecast
Table 41 UK Pharmacogenomic - Volume Price and Revenue Forecast
Table 42 Rest of Europe Inherited Disease - Volume Price and Revenue Forecast
Table 43 Rest of Europe Newborn Screening - Volume Price and Revenue Forecast
Table 44 Rest of Europe NIPT - Volume Price and Revenue Forecast
Table 45 Rest of Europe Direct to Consumer Testing - Volume Price and Revenue Forecast
Table 46 Rest of Europe Tumor - Volume Price and Revenue Forecast
Table 47 Rest of Europe Pharmacogenomic - Volume Price and Revenue Forecast
Table 48 Japan Inherited Disease - Volume Price and Revenue Forecast
Table 49 Japan Newborn Screening - Volume Price and Revenue Forecast
Table 50 Japan NIPT - Volume Price and Revenue Forecast
Table 51 Japan Direct to Consumer Testing - Volume Price and Revenue Forecast
Table 52 Japan Tumor - Volume Price and Revenue Forecast
Table 53 Japan Pharmacogenomic - Volume Price and Revenue Forecast
Table 54 China Inherited Disease - Volume Price and Revenue Forecast
Table 55 China Newborn Screening - Volume Price and Revenue Forecast
Table 56 China NIPT - Volume Price and Revenue Forecast
Table 57 China Direct to Consumer Testing - Volume Price and Revenue Forecast
Table 58 China Tumor - Volume Price and Revenue Forecast
Table 59 China Pharmacogenomic - Volume Price and Revenue Forecast
Table 60 South Korea Inherited Disease - Volume Price and Revenue Forecast
Table 61 South Korea Newborn Screening - Volume Price and Revenue Forecast
Table 62 South Korea NIPT - Volume Price and Revenue Forecast
Table 63 South Korea Direct to Consumer Testing - Volume Price and Revenue Forecast
Table 64 South Korea Tumor - Volume Price and Revenue Forecast
Table 65 South Korea Pharmacogenomic - Volume Price and Revenue Forecast
Table 66 Rest of Asia Pacific Inherited Disease - Volume Price and Revenue Forecast
Table 67 Rest of Asia Pacific Newborn Screening - Volume Price and Revenue Forecast
Table 68 Rest of Asia Pacific NIPT- Volume Price and Revenue Forecast
Table 69 Rest of Asia Pacific Direct to Consumer Testing - Volume Price and Revenue Forecast
Table 70 Rest of Asia Pacific Tumor - Volume Price and Revenue Forecast
Table 71 Rest of Asia Pacific Pharmacogenomic - Volume Price and Revenue Forecast
Table 72 Brazil Inherited Disease - Volume Price and Revenue Forecast
Table 73 Brazil Newborn Screening - Volume Price and Revenue Forecast
Table 74 Brazil NIPT- Volume Price and Revenue Forecast
Table 75 Brazil Direct to Consumer Testing - Volume Price and Revenue Forecast
Table 76 Brazil Tumor - Volume Price and Revenue Forecast
Table 77 Brazil Pharmacogenomic - Volume Price and Revenue Forecast
Table 78 Mexico Inherited Disease - Volume Price and Revenue Forecast
Table 79 Mexico Newborn Screening - Volume Price and Revenue Forecast
Table 80 Mexico NIPT - Volume Price and Revenue Forecast
Table 81 Mexico Direct to Consumer Testing - Volume Price and Revenue Forecast
Table 82 Mexico Tumor - Volume Price and Revenue Forecast
Table 83 Mexico Pharmacogenomic - Volume Price and Revenue Forecast
Table 84 Rest of Latin America Inherited Disease - Volume Price and Revenue Forecast
Table 85 Rest of Latin America Newborn Screening - Volume Price and Revenue Forecast
Table 86 Rest of Latin America NIPT- Volume Price and Revenue Forecast
Table 87 Rest of Latin America Direct to Consumer Testing - Volume Price and Revenue Forecast . 278
Table 88 Rest of Latin America Tumor - Volume Price and Revenue Forecast
Table 89 Rest of Latin America Pharmacogenomic - Volume Price and Revenue Forecast
Table 90 Africa & Middle East Inherited Disease - Volume Price and Revenue Forecast
Table 91 Africa & Middle East Newborn Screening - Volume Price and Revenue Forecast
Table 92 Africa & Middle East NIPT- Volume Price and Revenue Forecast
Table 93 Africa & Middle East Direct to Consumer Testing - Volume Price and Revenue Forecast . 280
Table 94 Africa & Middle East Tumor - Volume Price and Revenue Forecast
Table 95 USA Pharmacogenomic - Volume Price and Revenue Forecast
Table 96 Global Inherited Disease - Volume Price and Revenue Forecast
Table 97 Global Newborn Screening - Volume Price and Revenue Forecast
Table 98 Global NIPT - Volume Price and Revenue Forecast
Table 99 Global Direct to Consumer Testing - Volume Price and Revenue Forecast
Table 100 Global Tumor - Volume Price and Revenue Forecast
Table 101 Global Pharmacogenomic - Volume Price and Revenue Forecast
Table 102 2018 Clinical Lab Fee Schedule
Table of Figures
Figure 1 Medicare Clinical Lab Expenditures 2004 to 2020 ($Million)
Figure 2 Gene Sequencing
Figure 3 Historical Cost of Gene Sequencing
Figure 4 - Cost To Sequence a Human Genome

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